microphthalmos

Summary

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

Top Publications

  1. Sanjari M, Ghasemi Falavarjani K, Parvaresh M, Kharazi H, Kashkooli M. Bilateral aplasia of the optic nerve, chiasm, and tracts in an otherwise healthy infant. Br J Ophthalmol. 2006;90:513-4 pubmed
  2. Kallen B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol. 2005;20:345-50 pubmed
    ..Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma...
  3. Faiyaz ul Haque M, Zaidi S, Al Mureikhi M, Peltekova I, Tsui L, Teebi A. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet. 2007;72:164-6 pubmed
  4. Ramaesh T, Collinson J, Ramaesh K, Kaufman M, West J, Dhillon B. Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. Invest Ophthalmol Vis Sci. 2003;44:1871-8 pubmed
    ..To investigate corneal abnormalities in heterozygous Pax6(+/Sey-Neu) (Pax6(+/-), small eye) mice and compare them with aniridia-related keratopathy in PAX6(+/-) patients...
  5. Schimmenti L, de la Cruz J, Lewis R, Karkera J, Manligas G, Roessler E, et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003;116A:215-21 pubmed
    ..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. ..
  6. Wyatt A, Bakrania P, Bunyan D, Osborne R, Crolla J, Salt A, et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008;29:E278-83 pubmed publisher
    ..Our data suggest that OTX2 mutations and deletions account for 2-3% of AM cases...
  7. Tetens J, Ganter M, Müller G, Drogemuller C. Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18. Invest Ophthalmol Vis Sci. 2007;48:3506-15 pubmed
    ..It seems unlikely that a mutation in the TGIF1 gene is responsible for this disorder. The studied sheep represent a valuable large animal model for similar human ocular phenotypes. ..
  8. Xia C, Liu H, Cheung D, Cheng C, Wang E, Du X, et al. Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006;133:2033-40 pubmed
    ..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. ..
  9. Indrieri A, van Rahden V, Tiranti V, Morleo M, Iaconis D, Tammaro R, et al. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012;91:942-9 pubmed publisher
    ..Our results indicate an evolutionary conserved role of the MRC complexes III and IV for the proper development of the CNS in vertebrates and uncover a group of mitochondrial diseases hallmarked by a developmental phenotype...

More Information

Publications81

  1. Schittkowski M, Guthoff R. Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos. Br J Ophthalmol. 2007;91:1624-6 pubmed
    To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.
  2. Fuchs J, Holm K, Vilhelmsen K, Rosenberg T, Scherfig E, Fledelius H. Hereditary high hypermetropia in the Faroe Islands. Ophthalmic Genet. 2005;26:9-15 pubmed
    ..To characterize the phenotype of two families with high hypermetropia from the Faroe Islands...
  3. Wimplinger I, Shaw G, Kutsche K. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?. Mol Vis. 2007;13:1475-82 pubmed
  4. Wong J, Alon N, McKerlie C, Huang J, Meyn M, Buchwald M. 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. Hum Mol Genet. 2003;12:2063-76 pubmed
    ..Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination. ..
  5. Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, et al. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006;79:878-89 pubmed
    ..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. ..
  6. McLean C, Ragge N, Jones R, Collin J. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol. 2003;87:860-3 pubmed
    To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos.
  7. Puk O, Löster J, Dalke C, Soewarto D, Fuchs H, Budde B, et al. Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Invest Ophthalmol Vis Sci. 2008;49:1525-32 pubmed publisher
    ..The mouse mutant described herein offers a new functional candidate gene for microphthalmia-related disorders at the corresponding locus on human chromosome 6, area q24. ..
  8. Bakrania P, Robinson D, Bunyan D, Salt A, Martin A, Crolla J, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007;91:1471-6 pubmed
  9. van der Linde Sipman J, van den Ingh T, Vellema P. Morphology and morphogenesis of hereditary microphthalmia in Texel sheep. J Comp Pathol. 2003;128:269-75 pubmed
    ..The mesenchymal tissue later differentiated in various directions, whereas the epithelial structures found in the microphthalmic eyes at days 56 and 132 and in the newborn lambs seemed to be remnants of the epithelial lens vesicle...
  10. Gerido D, Sellitto C, Li L, White T. Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice. Invest Ophthalmol Vis Sci. 2003;44:2669-74 pubmed
    ..Taken together, these data indicate that the two components of the Cx50 phenotype are independent of each other and that cataractogenesis is under the influence of an unidentified genetic modifier. ..
  11. Yardley J, Leroy B, Hart Holden N, Lafaut B, Loeys B, Messiaen L, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-9 pubmed
    ..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
  12. Shah S, Taylor A, Sowden J, Ragge N, Russell Eggitt I, Rahi J, et al. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. 2011;52:558-64 pubmed publisher
    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...
  13. White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang T, et al. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. Mol Vis. 2008;14:2458-65 pubmed
    ..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...
  14. Verma A, Fitzpatrick D. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007;2:47 pubmed
    ..The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics...
  15. Crespí J, Buil J, Bassaganyas F, Vela Segarra J, Díaz Cascajosa J, Ayala Ramirez R, et al. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol. 2008;146:323-328 pubmed publisher
    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.
  16. Enright F, Campbell P, Stallings R, Hall K, Green A, Sweeney E, et al. Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. Pediatr Dermatol. 2003;20:153-7 pubmed
    ..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...
  17. Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Cytogenet Genome Res. 2002;99:297-302 pubmed
  18. Sener E, Mocan M, Saraç O, Gedik S, Sanac A. Management of strabismus in nanophthalmic patients: a long-term follow-up report. Ophthalmology. 2003;110:1230-6 pubmed
    ..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...
  19. Reis L, Tyler R, Schneider A, Bardakjian T, Stoler J, Melancon S, et al. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010;152A:582-90 pubmed publisher
    ..In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia...
  20. Pehere N, Jalali S, Deshmukh H, Kannabiran C. Posterior microphthalmos pigmentary retinopathy syndrome. Doc Ophthalmol. 2011;122:127-32 pubmed publisher
    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...
  21. Zenteno J, Buentello Volante B, Ayala Ramirez R, Villanueva Mendoza C. Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. Am J Med Genet A. 2011;155A:1001-6 pubmed publisher
  22. Nihalani B, Jani U, Vasavada A, Auffarth G. Cataract surgery in relative anterior microphthalmos. Ophthalmology. 2005;112:1360-7 pubmed
    To determine the prevalence of relative anterior microphthalmos (RAM) and evaluate intraoperative performance and surgical outcome in eyes with RAM undergoing cataract surgery.
  23. Ali M, Buentello Volante B, McKibbin M, Rocha Medina J, Fernandez Fuentes N, Koga Nakamura W, et al. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis. 2010;16:1162-8 pubmed
    ..To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico...
  24. Fantes J, Ragge N, Lynch S, McGill N, Collin J, Howard Peebles P, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003;33:461-3 pubmed
    ..2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation...
  25. Ayala Ramirez R, Graue Wiechers F, Robredo V, Amato Almanza M, Horta Diez I, Zenteno J. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006;12:1483-9 pubmed
    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 ..
  26. Sharma V, Ruiz de Luzuriaga A, Waggoner D, Greenwald M, Stein S. Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008;25:548-52 pubmed publisher
    ..We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder...
  27. Hobson G, Gibson C, Aragon M, Yuan Z, Davis Williams A, Banser L, et al. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009;149A:1698-705 pubmed publisher
    ..More than 50 additional genes were monosomic in this patient...
  28. Shah S, Taylor A, Sowden J, Ragge N, Russell Eggitt I, Rahi J, et al. Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 2012;119:362-8 pubmed publisher
    To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).
  29. Blazer S, Zimmer E, Mezer E, Bronshtein M. Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 2006;194:1354-9 pubmed
    ..The purpose of this study was to present sonographic and pathologic findings in early and late onset fetal microphthalmia...
  30. Slotnick S, Fitzgerald D, Sherman J, Krumholz D. Pervasive ocular anomalies in posterior microphthalmos. Optometry. 2007;78:71-7 pubmed
    Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions...
  31. Cain C, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, et al. Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. Prenat Diagn. 2007;27:373-9 pubmed
    ..To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome...
  32. Anguiano A, Yang X, Felix J, Hoo J. Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet A. 2003;119A:47-9 pubmed
    ..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...
  33. Hornby S, Ward S, Gilbert C. Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy. Med Sci Monit. 2003;9:HY23-6 pubmed
    ..However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess...
  34. Bar Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk O. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004;115:302-9 pubmed
    ..We now show that different mutations in other domains of the same gene underlie isolated microphthalmia/anophthalmia...
  35. Decock C, Breusegem C, Van Aken E, Leroy B, Van Den Broecke C, Delanghe J. High beta-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos. Br J Ophthalmol. 2007;91:836 pubmed
  36. Gonzalez Rodriguez J, Pelcastre E, Tovilla Canales J, Garcia Ortiz J, Amato Almanza M, Villanueva Mendoza C, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol. 2010;94:1100-4 pubmed publisher
    ..Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects...
  37. Kumar R, Everman D, Morgan C, Slavotinek A, Schwartz C, Simpson E. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. BMC Med Genet. 2007;8:48 pubmed
    ..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...
  38. Aijaz S, Clark B, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, et al. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Invest Ophthalmol Vis Sci. 2004;45:3871-6 pubmed
    ..To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6...
  39. Wu W, Dawson D, Sugar A, Elner S, Meyer K, McKey J, et al. Cataract surgery in patients with nanophthalmos: results and complications. J Cataract Refract Surg. 2004;30:584-90 pubmed
    ..To evaluate the results and complications of cataract surgery in patients with nanophthalmos...
  40. Billingsley G, Santhiya S, Paterson A, Ogata K, Wodak S, Hosseini S, et al. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006;79:702-9 pubmed
    ..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...
  41. Prakash S, Cormier T, McCall A, Garcia J, Sierra R, Haupt B, et al. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002;11:3237-48 pubmed
    ..Through the study of these genetically engineered mice we demonstrate that loss of HCCS causes the male lethality of MLS syndrome...
  42. Schneider A, Bardakjian T, Reis L, Tyler R, Semina E. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A. 2009;149A:2706-15 pubmed publisher
    ..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...
  43. Kapur R, Tu E, Toyran S, Shah P, Vangveeravong S, Lloyd W, et al. Corneal pathology in microphthalmia with linear skin defects syndrome. Cornea. 2008;27:734-8 pubmed publisher
    ..To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome...
  44. Zayed H, Chao R, Moshrefi A, LopezJimenez N, Delaney A, Chen J, et al. 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. Am J Med Genet A. 2010;152A:916-23 pubmed publisher
  45. Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton D, et al. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthalmol Vis Sci. 2006;47:1274-80 pubmed
    ..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment...
  46. Cape C, Zaidman G, Beck A, Kaufman A. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Arch Ophthalmol. 2004;122:1070-4 pubmed
  47. Gallardo M, Rodriguez De Cordoba S, Schneider A, Dwyer M, Ayuso C, Bovolenta P. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Am J Med Genet A. 2004;129A:92-4 pubmed
  48. Li H, Wang J, Wang C, Yu P, Zhou Q, Chen Y, et al. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14. Hum Genet. 2008;122:589-93 pubmed
    ..Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis...
  49. Oberhansli C, Charles Messance D, Munier F, Spahn B. Management of microphthalmos and anophthalmos: prosthetic experience. Klin Monbl Augenheilkd. 2003;220:134-7 pubmed
    Congenital microphthalmos and anophthalmos are rare. The reduced eyeball size, or its absence, prevents the normal development of the orbit. This lack of development has functional, physical and psychological repercussions...
  50. Schittkowski M, Guthoff R. Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approach. Br J Ophthalmol. 2006;90:1173-7 pubmed
    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...
  51. Huang S, Yu M, Qiu C, Ye T. The management of secondary glaucoma in nanophthalmic patients. Yan Ke Xue Bao. 2002;18:156-9 pubmed
    ..To investigate the clinical characteristcs, management of secondary glaucoma in nanophthalmos, and the prevention of its complications...
  52. Gal A, Rau I, el Matri L, Kreienkamp H, Fehr S, Baklouti K, et al. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011;88:382-90 pubmed publisher
    Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length...
  53. Bonneau D, Guichet A, Boussion F, Lépinard C, Biquard F, Descamps P. Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. Am J Med Genet A. 2004;131:204 pubmed
  54. Kim J, Boes D, Kinyoun J. Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis. Am J Ophthalmol. 2004;138:480-1 pubmed
    To report a case of retinoschisis and dialysis associated with bilateral posterior microphthalmos and papillomacular fold.
  55. Iseri S, Wyatt A, Nurnberg G, Kluck C, Nurnberg P, Holder G, et al. 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. Hum Genet. 2010;128:51-60 pubmed publisher
    ..A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2...
  56. Shaw G, Carmichael S, Yang W, Harris J, Finnell R, Lammer E. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005;137:36-40 pubmed
    ..These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia...
  57. Zhou J, Kherani F, Bardakjian T, Katowitz J, Hughes N, Schimmenti L, et al. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008;14:583-92 pubmed
    ..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...
  58. Abbasi A, Khalaj M, Tsuji T, Tanahara M, Uchida K, Sugimoto Y, et al. A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle. Genomics. 2009;94:55-62 pubmed publisher
    ..The present finding demonstrated the essential role of WFDC1 in mammalian eye development...
  59. McGannon P, Miyazaki Y, Gupta P, Traboulsi E, Colmenares C. Ocular abnormalities in mice lacking the Ski proto-oncogene. Invest Ophthalmol Vis Sci. 2006;47:4231-7 pubmed
    ..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...
  60. Navas R, Parra R, Pacheco M, Gomez J, Bermudez I, Rodriguez Morales A. Congenital bilateral microphthalmos after gestational syphilis. Indian J Pediatr. 2006;73:935-6 pubmed
    Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum...
  61. Golzio C, Martinovic Bouriel J, Thomas S, Mougou Zrelli S, Grattagliano Bessieres B, Bonniere M, et al. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet. 2007;80:1179-87 pubmed
  62. Erdol H, Kola M, Turk A, Akyol N. Ultrasound biomicroscopy and OCT findings in posterior microphthalmos. Eur J Ophthalmol. 2008;18:479-82 pubmed
    Posterior microphthalmos is a rare ocular abnormality. The authors report two siblings with bilateral posterior microphthalmos.
  63. Sundin O, Dharmaraj S, Bhutto I, Hasegawa T, McLeod D, Merges C, et al. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genet. 2008;29:1-9 pubmed publisher
    ..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...
  64. Sakazume S, Sorokina E, Iwamoto Y, Semina E. Functional analysis of human mutations in homeodomain transcription factor PITX3. BMC Mol Biol. 2007;8:84 pubmed
    ..The functional consequences of these human mutations remain unknown...
  65. Nair K, Hmani Aifa M, Ali Z, Kearney A, Ben Salem S, Macalinao D, et al. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. Nat Genet. 2011;43:579-84 pubmed publisher
    ..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...
  66. Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K. 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. Eur J Med Genet. 2007;50:421-31 pubmed
    ..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...
  67. Gregory Evans C, Williams M, Halford S, Gregory Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 2004;41:881-91 pubmed
    ..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...
  68. Inagaki M, Irie K, Ishizaki H, Tanaka Okamoto M, Morimoto K, Inoue E, et al. Roles of cell-adhesion molecules nectin 1 and nectin 3 in ciliary body development. Development. 2005;132:1525-37 pubmed
  69. Reis L, Tyler R, Schneider A, Bardakjian T, Semina E. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis. 2010;16:768-73 pubmed
  70. Lowry R, Kohut R, Sibbald B, Rouleau J. Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol. 2005;40:38-44 pubmed
    ..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...
  71. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009;17:1325-35 pubmed publisher
  72. Al Turki R, Baabbad R, Al Amro S. Posterior microphthalmos with uveal effusion managed by lamellar sclerotomies. Ann Ophthalmol (Skokie). 2008;40:193-6 pubmed
    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...