microphthalmos

Summary

Summary: Congenital or developmental anomaly in which the eyeballs are abnormally small.

Top Publications

  1. ncbi HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Mol Vis 13:1475-82. 2007
  2. pmc Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, Germany
    Am J Hum Genet 79:878-89. 2006
  3. pmc Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
  4. ncbi Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases
    Manuela Morleo
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, 80131 Naples, Italy
    Am J Med Genet A 137:190-8. 2005
  5. doi Microphthalmia with linear skin defects: a case report and review
    Vishakha M Sharma
    Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA
    Pediatr Dermatol 25:548-52. 2008
  6. doi Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
    J Gonzalez-Rodriguez
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Chimalpopoca 14, Col Obrera, CP 06800, Mexico City, Mexico
    Br J Ophthalmol 94:1100-4. 2010
  7. ncbi Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D 20246 Hamburg, Germany
    Eur J Med Genet 50:421-31. 2007
  8. doi Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management
    Shaheen P Shah
    International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
    Ophthalmology 119:362-8. 2012
  9. ncbi Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
    S Khaliq
    Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
    Invest Ophthalmol Vis Sci 42:2225-8. 2001
  10. ncbi Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions
    T Kono
    Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan
    J Hum Genet 44:63-8. 1999

Research Grants

  1. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
  2. ETHANOL, RETINOIDS, AND CONGENITAL HEART MALFORMATIONS
    Janee Gelineau van Waes; Fiscal Year: 2003
  3. Proteomic Analysis of the Retina
    MONICA JABLONSKI; Fiscal Year: 2007
  4. Regulation of parietal bone differentiation
    Venkatesh Govindarajan; Fiscal Year: 2007
  5. Molecular Genetics of X-linked Cataracts
    Kristen Huang; Fiscal Year: 2007
  6. Molecular Regulation of Ocular Gland Development
    Venkatesh Govindarajan; Fiscal Year: 2010

Detail Information

Publications213 found, 100 shown here

  1. ncbi HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Mol Vis 13:1475-82. 2007
    ..In addition, we investigated the impact of the p.E159K missense mutation on sorting of HCCS to mitochondria and its functional integrity...
  2. pmc Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, Germany
    Am J Hum Genet 79:878-89. 2006
    ..In summary, we suggest that disturbance of both OXPHOS and the balance between apoptosis and necrosis, as well as the X-inactivation pattern, may contribute to the variable phenotype observed in patients with MLS...
  3. pmc Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
    ..Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG...
  4. ncbi Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases
    Manuela Morleo
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, 80131 Naples, Italy
    Am J Med Genet A 137:190-8. 2005
    ..These patients made it possible to undertake mutation screening of candidate genes and may prove critical for the identification of the gene responsible for this challenging and intriguing genetic disease...
  5. doi Microphthalmia with linear skin defects: a case report and review
    Vishakha M Sharma
    Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA
    Pediatr Dermatol 25:548-52. 2008
    ..We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder...
  6. doi Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
    J Gonzalez-Rodriguez
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Chimalpopoca 14, Col Obrera, CP 06800, Mexico City, Mexico
    Br J Ophthalmol 94:1100-4. 2010
    ..Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects...
  7. ncbi Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D 20246 Hamburg, Germany
    Eur J Med Genet 50:421-31. 2007
    ..Nonetheless, a non-random X-inactivation pattern in favor of activity of the wild-type X chromosome in the early blastocyte could also account for the apparent lack of any disease sign in this female...
  8. doi Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management
    Shaheen P Shah
    International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
    Ophthalmology 119:362-8. 2012
    To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).
  9. ncbi Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
    S Khaliq
    Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
    Invest Ophthalmol Vis Sci 42:2225-8. 2001
    ..All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens...
  10. ncbi Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions
    T Kono
    Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan
    J Hum Genet 44:63-8. 1999
    ..Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes...
  11. ncbi Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)
    L Schaefer
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA
    Genomics 34:166-72. 1996
    ..The expression pattern of this gene and knowledge about the function of holocytochrome synthetases, however, suggest that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondrial dysfunction...
  12. ncbi Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c
    Quenten P Schwarz
    Department of Molecular Biosciences and Centre for the Molecular Genetics of Development, University of Adelaide, North Terrace, Adelaide, South Australia, Australia 5005
    Genomics 79:51-7. 2002
    ....
  13. ncbi The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions
    M C Wapenaar
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Hum Mol Genet 2:947-52. 1993
    ..Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects...
  14. ncbi Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome
    F Enright
    Department of Dermatology, Our Lady s Hospital for Sick Children, Dublin, Ireland
    Pediatr Dermatol 20:153-7. 2003
    ..We describe this patient with an Xp22.3 microdeletion to heighten awareness among dermatologists of this syndrome and to underscore the difficulties in diagnosing MLS syndrome...
  15. ncbi Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Genome Res 99:297-302. 2002
    ....
  16. ncbi Management of strabismus in nanophthalmic patients: a long-term follow-up report
    Emin Cumhur Sener
    Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey
    Ophthalmology 110:1230-6. 2003
    ..The purpose of this study is to identify the characteristics of strabismus that coexist with nanophthalmos and to report the results of strabismus surgery performed on these small eyes...
  17. ncbi Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy
    Thaya Ramaesh
    Department of Reproductive and Developmental Sciences, Genes and Development Group, Princess Alexandra Eye Pavilion, Royal Infirmary of Edinburgh, University of Edinburgh, Edinburgh, Scotland, United Kingdom
    Invest Ophthalmol Vis Sci 44:1871-8. 2003
    ..To investigate corneal abnormalities in heterozygous Pax6(+/Sey-Neu) (Pax6(+/-), small eye) mice and compare them with aniridia-related keratopathy in PAX6(+/-) patients...
  18. ncbi Twin brothers with MIDAS syndrome and XX karyotype
    A Anguiano
    Cytogenetics Department, Quest Diagnostics, Nichols Institute, San Juan Capistrano, California, USA
    Am J Med Genet A 119:47-9. 2003
    ..The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation...
  19. pmc Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Andreas Gal
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Hum Genet 88:382-90. 2011
    Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length...
  20. ncbi Posterior segment changes associated with posterior microphthalmos
    Moncef Khairallah
    Department of Ophthalmology, Fattouma Bourguiba University Hospital, 5019 Monastir, Tunisia
    Ophthalmology 109:569-74. 2002
    To characterize and analyze the posterior segment ocular involvement in patients with posterior microphthalmos.
  21. ncbi Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia
    Jasmine C Y Wong
    Program in Genetics and Genomics Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 12:2063-76. 2003
    ..Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination...
  22. ncbi Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    C A Hodgkinson
    Laboratory of Viral and Molecular Pathogenesis, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
    Cell 74:395-404. 1993
    ..The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development...
  23. ncbi Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Hum Genet 103:51-6. 1998
    ..This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy...
  24. ncbi Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck
    B R Paulger
    Division of Dermatology, University of Texas Health Science Center, San Antonio 78284, USA
    Pediatr Dermatol 14:26-30. 1997
    ..We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions...
  25. ncbi Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea)
    Catherine J Cape
    Department of Ophthalmology, Westchester Medical Center, Valhalla, NY 10595, USA
    Arch Ophthalmol 122:1070-4. 2004
  26. ncbi Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome
    Siddharth K Prakash
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 11:3237-48. 2002
    ..Through the study of these genetically engineered mice we demonstrate that loss of HCCS causes the male lethality of MLS syndrome...
  27. ncbi Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice
    Dwan A Gerido
    Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
    Invest Ophthalmol Vis Sci 44:2669-74. 2003
    ....
  28. doi Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
    Sibel Ugur Iseri
    Department of Physiology, Anatomy, and Genetics, University of Oxford, Le Gros Clark Building, South Parks Rd, Oxford, OX1 3QX, UK
    Hum Genet 128:51-60. 2010
    ..A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2...
  29. ncbi Posterior microphthalmos with uveal effusion managed by lamellar sclerotomies
    Ramadan Al Turki
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
    Ann Ophthalmol (Skokie) 40:193-6. 2008
    A 21-year-old male with bilateral low visual acuity since childhood was diagnosed with posterior microphthalmos. He underwent scleral windows surgery for one eye...
  30. pmc The management of orbital cysts associated with congenital microphthalmos and anophthalmos
    C J McLean
    Moorfields Eye Hospital, City Road, London, UK
    Br J Ophthalmol 87:860-3. 2003
    To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos.
  31. pmc A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15
    L Morle
    Centre de Genetique Moleculaire et Cellulaire, CNRS UMR 5534, Universite Claude Bernard Lyon I, 69622 Villeurbanne, France
    Am J Hum Genet 67:1592-7. 2000
    ..77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040...
  32. ncbi Ultrasound biomicroscopy and OCT findings in posterior microphthalmos
    H Erdol
    Department of Ophthalmology, Karadeniz Technical University, School of Medicine, Trabzon Turkey
    Eur J Ophthalmol 18:479-82. 2008
    Posterior microphthalmos is a rare ocular abnormality. The authors report two siblings with bilateral posterior microphthalmos.
  33. ncbi Pervasive ocular anomalies in posterior microphthalmos
    Samantha Slotnick
    State University of New York, State College of Optometry, New York, New York 10541, USA
    Optometry 78:71-7. 2007
    Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions...
  34. doi Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
    Juan Carlos Zenteno
    Faculty of Medicine, Department of Biochemistry, National Autonomous University of Mexico, Mexico City, Mexico
    Am J Med Genet A 155:1001-6. 2011
    ....
  35. pmc Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos
    M P Schittkowski
    University Eye Department, Rostock University, Doberaner Strasse 140, D 18055 Rostock, Germany
    Br J Ophthalmol 91:1624-6. 2007
    To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.
  36. pmc Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
    Ravinesh A Kumar
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada
    BMC Med Genet 8:48. 2007
    ..In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes...
  37. doi Corneal pathology in microphthalmia with linear skin defects syndrome
    Rashmi Kapur
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA
    Cornea 27:734-8. 2008
    ..To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome...
  38. ncbi Recognizing posterior microphthalmos
    Arif O Khan
    Ophthalmology 113:718. 2006
  39. ncbi The management of secondary glaucoma in nanophthalmic patients
    Shengsong Huang
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Yan Ke Xue Bao 18:156-9. 2002
    ..To investigate the clinical characteristcs, management of secondary glaucoma in nanophthalmos, and the prevention of its complications...
  40. ncbi Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation
    Thomas Paul
    Children s Heart Program of South Carolina, Medical University of South Carolina, Charleston 29425, USA
    J Cardiovasc Electrophysiol 13:612-5. 2002
    ..This report demonstrates the usefulness and safety of radiofrequency catheter ablation in an infant with polymorphic VT who was unresponsive to medical therapy...
  41. doi Posterior microphthalmos pigmentary retinopathy syndrome
    Niranjan Pehere
    Jasti V Ramanamma Children s Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India
    Doc Ophthalmol 122:127-32. 2011
    Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements...
  42. doi Changes of scleral sulfated proteoglycans in three cases of nanophthalmos
    Takeo Fukuchi
    Division of Ophthalmology and Visual Science, Niigata University, Niigata, Japan
    Jpn J Ophthalmol 53:171-5. 2009
    ..To examine the composition of scleral sulfated proteoglycans in three nanophthalmic eyes by electron microscopic histochemistry...
  43. ncbi Insight into the microphthalmia gene
    K J Moore
    Trends Genet 11:442-8. 1995
    ..It is also the gene mutated in some patients with the human deafness syndrome, Waardenburg's syndrome type II, and hence helps to understand this syndrome...
  44. pmc High beta-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos
    C E Decock
    Br J Ophthalmol 91:836. 2007
  45. ncbi Bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant
    I U Scott
    Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, FL 33136, USA
    Am J Ophthalmol 124:409-10. 1997
    ..To report bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant...
  46. ncbi Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 8:251-5. 1994
    ..Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene...
  47. ncbi Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
    E Steingrimsson
    Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702
    Nat Genet 8:256-63. 1994
    ..These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2...
  48. pmc Ocular coloboma: a reassessment in the age of molecular neuroscience
    C Y Gregory-Evans
    Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK
    J Med Genet 41:881-91. 2004
    ..In general, severity of disease can be linked to the temporal expression of the gene, but this is modified by factors such as tissue specificity of gene expression and genetic redundancy...
  49. ncbi A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation
    Raul Ayala-Ramirez
    Department of Retina, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
    Mol Vis 12:1483-9. 2006
    To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a ..
  50. doi Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype
    Oliver Puk
    Institute of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 49:1525-32. 2008
    ..The purpose of the study was the characterization of the novel small-eye mutant Aey12 in the mouse...
  51. ncbi Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
    Development 133:2033-40. 2006
    ..This explains why and how different connexin mutations lead to a variety of cataracts. The principle of this explanation can also be applied to mutations of other connexin isoforms that cause different diseases in other organs...
  52. doi A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen
    Jaume Crespí
    Department of Ophthalmology, Autonomous University of Barcelona, Hospital de Sant Pau y de la Santa Creu, Barcelona, Spain
    Am J Ophthalmol 146:323-328. 2008
    To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen.
  53. pmc Functional analysis of human mutations in homeodomain transcription factor PITX3
    Satoru Sakazume
    Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    BMC Mol Biol 8:84. 2007
    ..The functional consequences of these human mutations remain unknown...
  54. pmc Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization
    Olof H Sundin
    Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 92889, USA
    Ophthalmic Genet 29:1-9. 2008
    ..Recessive nanophthalmos is caused by severe mutations in the MFRP gene, which encodes a Frizzled-related transmembrane protein that is selectively expressed in the retinal pigment epithelium (RPE) and ciliary body...
  55. pmc Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter
    Catrin S Rutland
    School of Biomedical Sciences, Medical School, University of Nottingham, Nottingham, United Kingdom
    Mol Vis 13:47-56. 2007
    ..This study aimed to evaluate the effects of VEGF-A(188) overexpression on growth of ocular tissue components...
  56. ncbi Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes
    P E Runge
    Jules Stein Eye Institute, UCLA Medical Center
    Invest Ophthalmol Vis Sci 33:3202-8. 1992
    ..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene...
  57. ncbi Phacoemulsification and intraocular lens implantation in nanophthalmic eyes: report of a medium-size series
    Anne Faucher
    Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
    J Cataract Refract Surg 28:837-42. 2002
    ..To evaluate the outcomes in nanophthalmic eyes that had phacoemulsification and intraocular lens (IOL) implantation...
  58. ncbi Cataract surgery in patients with nanophthalmos: results and complications
    Wayne Wu
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, USA
    J Cataract Refract Surg 30:584-90. 2004
    ..To evaluate the results and complications of cataract surgery in patients with nanophthalmos...
  59. doi Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk
    Shaheen P Shah
    International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
    Invest Ophthalmol Vis Sci 52:558-64. 2011
    Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement in children...
  60. ncbi Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14
    Hui Li
    State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China
    Hum Genet 122:589-93. 2008
    ..Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis...
  61. pmc A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect
    Hatem Zayed
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
    Am J Med Genet A 152:916-23. 2010
    ....
  62. ncbi Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India
    S J Hornby
    International Centre for Eye Health, Institute of Ophthalmology, London, UK
    Eye (Lond) 14:219-24. 2000
    The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs)...
  63. ncbi Unique and redundant connexin contributions to lens development
    Thomas W White
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    Science 295:319-20. 2002
    ..These data show that intrinsic properties of Cx50 were required for cellular growth, whereas nonspecific restoration of communication by Cx46 maintained differentiation...
  64. ncbi Piggyback foldable intraocular lens implantation in patients with microphthalmos
    T Oshika
    Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan
    J Cataract Refract Surg 27:841-4. 2001
    ..To evaluate the clinical results of phacoemulsification and implantation of 2 foldable acrylic intraocular lenses (IOLs) in microphthalmic eyes...
  65. doi Unilateral optic nerve aplasia associated with rudimental retinal vasculature
    Roberto Caputo
    Pediatric Ophthalmology Unit, Meyer Children s Hospital, Viale Pieraccini, 24, 50100, Florence, Italy
    Int Ophthalmol 29:517-9. 2009
    ..It is frequently associated with other ocular and central nervous system anomalies. In this paper, we describe a case of ONA associated with microphthalmos and a rudimental retinal vasculature in an otherwise healthy infant.
  66. ncbi Roles of cell-adhesion molecules nectin 1 and nectin 3 in ciliary body development
    Maiko Inagaki
    Department of Molecular Biology and Biochemistry, Osaka University Graduate School of Medicine Faculty of Medicine, Suita 565 0871, Japan
    Development 132:1525-37. 2005
    ....
  67. ncbi Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy
    Stella J Hornby
    Department of Ophthalmology, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, U K
    Med Sci Monit 9:HY23-6. 2003
    ..However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess...
  68. pmc Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia
    Tristan White
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 14:2458-65. 2008
    ..Vitamin A metabolism is vital to normal eye development and growth. This study explores the association of these genes in a cohort of subjects with A/M...
  69. pmc Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia
    Jie Zhou
    Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Vis 14:583-92. 2008
    ..In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10...
  70. pmc CRYBA4, a novel human cataract gene, is also involved in microphthalmia
    Gail Billingsley
    Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Am J Hum Genet 79:702-9. 2006
    ..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
  71. ncbi Orbital aspiration as treatment of microphthalmos with orbital cyst: a case report
    Kitthisak Kitthaweesin
    Department of Ophthalmology, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand
    J Med Assoc Thai 85:1024-7. 2002
    ..Pre- and post-operative photographs and magnetic resonance imaging indicated a safe, simple single orbital aspiration as an alternative treatment for mild microphthalmos with an orbital cyst.
  72. ncbi The epidemiology of anophthalmia and microphthalmia in Sweden
    Bengt Kallen
    Tornblad Institute, University of Lund, Lund, Sweden
    Eur J Epidemiol 20:345-50. 2005
    ..Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma...
  73. ncbi Cataract surgery in relative anterior microphthalmos
    Bharti R Nihalani
    Iladevi Cataract and IOL Research Centre, Raghudeep Eye Clinic, Ahmedabad, India
    Ophthalmology 112:1360-7. 2005
    To determine the prevalence of relative anterior microphthalmos (RAM) and evaluate intraoperative performance and surgical outcome in eyes with RAM undergoing cataract surgery.
  74. pmc Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
    T W White
    Department of Cell Biology and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cell Biol 143:815-25. 1998
    ..Furthermore, these data indicate that unique functional properties of both Cx46 and Cx50 are required for proper lens development...
  75. ncbi Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System
    R Brian Lowry
    Alberta Congenital Anomalies Surveillance System, Health Surveillance, Alberta Health and Wellness, Calgary, Alta
    Can J Ophthalmol 40:38-44. 2005
    ..Since this increase was at variance with the previous 19 years, we performed a review to determine whether the increase was true and, if so, the possible explanation...
  76. pmc SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    P Bakrania
    Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford, OX1 3QX, United Kingdom
    Br J Ophthalmol 91:1471-6. 2007
    ....
  77. doi A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle
    Abdol Rahim Abbasi
    Graduate School of Natural Science and Technology, Okayama University, Tsushima Naka, Okayama 700 8530, Japan
    Genomics 94:55-62. 2009
    ..The present finding demonstrated the essential role of WFDC1 in mammalian eye development...
  78. ncbi Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization
    Colyn Cargile Cain
    Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Prenat Diagn 27:373-9. 2007
    ..To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome...
  79. ncbi Hereditary high hypermetropia in the Faroe Islands
    Josefine Fuchs
    Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Ophthalmic Genet 26:9-15. 2005
    ..To characterize the phenotype of two families with high hypermetropia from the Faroe Islands...
  80. ncbi Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
    E Ferda Percin
    Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut, USA
    Nat Genet 25:397-401. 2000
    ..The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development...
  81. pmc Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia
    Adele Schneider
    Albert Einstein Medical Center, Department of Pediatrics Division of Genetics, Milwaukee, Wisconsin, USA
    Am J Med Genet A 149:2706-15. 2009
    ..In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families...
  82. pmc Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
    Christelle Golzio
    INSERM U781, Hopital Necker, Paris Cedex, France
    Am J Hum Genet 80:1179-87. 2007
    ....
  83. ncbi A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME, USA
    Hum Mol Genet 11:507-13. 2002
    ..These mouse models will be useful for investigating the mechanistic relationship between gap junction impairment and cataract formation...
  84. ncbi Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, USA
    Am J Med Genet A 137:36-40. 2005
    ..These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia...
  85. pmc Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approach
    M P Schittkowski
    Department of Opthalmology, University of Rostock, Doberaner Strasse 140, D 18055 Rostock, Germany
    Br J Ophthalmol 90:1173-7. 2006
    Children with congenital microphthalmos are usually able to wear an eye prosthesis but the cosmetic aspect is determined by the size of the orbital volume deficiency...
  86. ncbi Early and late onset fetal microphthalmia
    Shraga Blazer
    Department of Neonatology, Rambam Medical Center, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Obstet Gynecol 194:1354-9. 2006
    ..The purpose of this study was to present sonographic and pathologic findings in early and late onset fetal microphthalmia...
  87. doi Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
    Alexander Wyatt
    Dept of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX
    Hum Mutat 29:E278-83. 2008
    ..Our data suggest that OTX2 mutations and deletions account for 2-3% of AM cases...
  88. ncbi Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
    Carla Bidinost
    Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA
    Invest Ophthalmol Vis Sci 47:1274-80. 2006
    ..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment...
  89. ncbi Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001
    Mathias B Forrester
    Hawaii Birth Defects Program, Honolulu, Hawaii 96817 5157, USA
    Birth Defects Res A Clin Mol Teratol 76:187-92. 2006
    ..Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects...
  90. ncbi Environmental risk factors in congenital malformations of the eye
    Stella J Hornby
    Department of Epidemiology and International Eye Health, Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Ann Trop Paediatr 22:67-77. 2002
    ....
  91. ncbi Congenital bilateral microphthalmos after gestational syphilis
    Rosa M Navas
    Obstetrics and Gynecology, Simon Bolivar General Hospital, Ocumare del Tuy, Miranda, Venezuela
    Indian J Pediatr 73:935-6. 2006
    Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum...
  92. ncbi Colobomatous microphthalmia and orbital neuroglial cyst: case report
    Lourdes M Garcia
    Department of Pediatric Ophthalmology, The Center for Genetic Eye Disease, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 23:37-42. 2002
    ..The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision...
  93. ncbi Ocular abnormalities in mice lacking the Ski proto-oncogene
    Peter McGannon
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, OH 44195, USA
    Invest Ophthalmol Vis Sci 47:4231-7. 2006
    ..This study involved a novel mouse model of PHPV, generated by a null mutation of the Ski proto-oncogene, that displays other anterior segment and retinal malformations often found in human cases of PHPV...
  94. pmc BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
    Emma Hilton
    Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 17:1325-35. 2009
    ....
  95. ncbi Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    David Ng
    Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet 110:308-14. 2002
    ..In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders...
  96. pmc Geographical variation in anophthalmia and microphthalmia in England, 1988-94
    H Dolk
    Environmental Epidemiology Unit, Department of Public Health and Policy, London School of Hygiene and Tropical Medicine, London WC1E 7HT
    BMJ 317:905-9; discussion 910. 1998
    ..To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters...
  97. ncbi Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma
    Saima Aijaz
    Institute of Ophthalmology, University College London, United Kingdom
    Invest Ophthalmol Vis Sci 45:3871-6. 2004
    ..To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6...
  98. ncbi Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18
    Jens Tetens
    Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Germany
    Invest Ophthalmol Vis Sci 48:3506-15. 2007
    ..To characterize the phenotype and map the locus responsible for autosomal recessive inherited ovine microphthalmia (OMO) in sheep...
  99. ncbi MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome
    R Happle
    Department of Dermatology, University of Marburg, Germany
    Am J Med Genet 47:710-3. 1993
    ..3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome...
  100. ncbi Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
    Lisa A Schimmenti
    UCLA Department of Human Genetics, Pediatrics, The Jules Stein Eye Institute and Mental Retardation Research Center, Los Angeles, California, USA
    Am J Med Genet A 116:215-21. 2003
    ..A novel 24 bp deletion in the gene SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma...
  101. ncbi Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome
    S Forrester
    Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9658, USA
    Am J Med Genet 98:92-100. 2001
    ..An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28...

Research Grants6

  1. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  2. ETHANOL, RETINOIDS, AND CONGENITAL HEART MALFORMATIONS
    Janee Gelineau van Waes; Fiscal Year: 2003
    ..abstract_text> ..
  3. Proteomic Analysis of the Retina
    MONICA JABLONSKI; Fiscal Year: 2007
    ..These studies will also generate the framework for future project periods in which the precise molecular mechanisms and detailed pathways that control photoreceptor outer segment assembly will be determined. [unreadable] [unreadable]..
  4. Regulation of parietal bone differentiation
    Venkatesh Govindarajan; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  5. Molecular Genetics of X-linked Cataracts
    Kristen Huang; Fiscal Year: 2007
    ..Identifying the XLCD gene would contribute to the our understanding of the molecular events involved in lens development. ..
  6. Molecular Regulation of Ocular Gland Development
    Venkatesh Govindarajan; Fiscal Year: 2010
    ..In addition, the proposed studies will, in the long-term, allow the development of novel therapeutic approaches for treatment of patients with dry eye syndromes. ..