anophthalmos

Summary

Summary: Congenital absence of the eye or eyes.

Top Publications

  1. Ragge N, Subak Sharpe I, Collin J. A practical guide to the management of anophthalmia and microphthalmia. Eye (Lond). 2007;21:1290-300 pubmed
    ..A coordinated approach with paediatrics is necessary to manage any associated conditions. Genetic diagnosis and investigations can greatly assist in providing a diagnosis and informed genetic counselling...
  2. Schittkowski M, Gundlach K, Guthoff R. [Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders]. Ophthalmologe. 2003;100:525-34 pubmed
    Children presenting with congenital anophthalmos usually develop a smaller bony orbit, a constricted mucosal socket, and a shortened eyelid fissure. This causes problems when fitting these patients with a prosthesis...
  3. 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
    b>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...
  4. Mashiach R, Vardimon D, Kaplan B, Shalev J, Meizner I. Early sonographic detection of recurrent fetal eye anomalies. Ultrasound Obstet Gynecol. 2004;24:640-3 pubmed
    ..Our data suggest that a detailed targeted ultrasound survey with a special focus on the orbital region should be offered at the time of genetic counseling to couples with children with congenital eye anomalies. ..
  5. Dolk H, Busby A, Armstrong B, Walls P. Geographical variation in anophthalmia and microphthalmia in England, 1988-94. BMJ. 1998;317:905-9; discussion 910 pubmed
    ..The excess risk in rural areas requires further investigation. ..
  6. Zenteno J, Gascon Guzman G, Tovilla Canales J. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin Genet. 2005;68:564-6 pubmed
  7. 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...
  8. Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, et al. Confirmation of RAX gene involvement in human anophthalmia. Clin Genet. 2008;74:392-5 pubmed publisher
    ..Tyr303X). This is the second report of a patient with anophthalmia caused by RAX mutations. These findings confirm that RAX plays a major role in the early stages of eye development and is involved in human anophthalmia...
  9. 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.

More Information

Publications67

  1. Rahimov F, Ribeiro L, de Miranda E, Richieri Costa A, Murray J. GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?. Am J Med Genet A. 2006;140:2571-6 pubmed
    ..Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient...
  2. Forrester M, Merz R. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol. 2006;76:187-92 pubmed
    ..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...
  3. Tse D, Abdulhafez M, Orozco M, Tse J, Azab A, Pinchuk L. Evaluation of an integrated orbital tissue expander in congenital anophthalmos: report of preliminary clinical experience. Am J Ophthalmol. 2011;151:470-82.e1 pubmed publisher
    ..To evaluate the effectiveness of an orbital tissue expander designed to stimulate orbital bone growth in an anophthalmic socket...
  4. Schilter K, Schneider A, Bardakjian T, Soucy J, Tyler R, Reis L, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet. 2011;79:158-68 pubmed publisher
    ..OTX2 patients also show a high rate of inherited mutations (35%), often from mildly or unaffected parents, emphasizing the importance of careful parental examination/testing...
  5. 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...
  6. Ragge N, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 2005;135:1-7; discussion 8 pubmed
  7. 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
  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. Teiber M, Garrido J, Barreiro C. Ophthalmo-acromelic syndrome: report of a case with vertebral anomalies. Am J Med Genet A. 2007;143A:2460-2 pubmed
  10. Donner A, Episkopou V, Maas R. Sox2 and Pou2f1 interact to control lens and olfactory placode development. Dev Biol. 2007;303:784-99 pubmed
    ..Collectively, these results indicate that Pou2f1, Sox2 and Pax6 are interdependent components of a molecular pathway utilized in both lens and nasal placode induction...
  11. 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).
  12. Khan A, Zafar S. Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?. Clin Dysmorphol. 2008;17:187-8 pubmed publisher
  13. Slavotinek A. Eye development genes and known syndromes. Mol Genet Metab. 2011;104:448-56 pubmed publisher
    ..In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6...
  14. Marcus D, Shore J, Albert D. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol. 1990;108:96-100 pubmed
    ..These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia...
  15. 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...
  16. 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...
  17. Voronina V, Kozhemyakina E, O Kernick C, Kahn N, Wenger S, Linberg J, et al. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet. 2004;13:315-22 pubmed
    ..Parents and grandparents of the proband were found to be carriers without visible ocular defects, consistent with an autosomal recessive inheritance pattern. This is the first report of genetic mutations in the human RAX gene...
  18. Clauser L, Sarti E, Dallera V, Galiè M. Integrated reconstructive strategies for treating the anophthalmic orbit. J Craniomaxillofac Surg. 2004;32:279-90 pubmed
    ..Acquired anophthalmic orbit may be due to trauma or tumour. In acquired forms the goal is restoration of orbital volume with adequate replacement of orbital contents...
  19. Gallardo M, Lopez Rios J, Fernaud Espinosa I, Granadino B, Sanz R, Ramos C, et al. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics. 1999;61:82-91 pubmed
    ..3-q23 with bilateral anophthalmia and pituitary anomalies. Genomic analyses of one of these cases demonstrated SIX6 hemizygosity, strongly suggesting that SIX6 haploinsufficiency is responsible for these developmental disorders...
  20. London N, Kessler P, Williams B, Pauer G, Hagstrom S, Traboulsi E. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. Mol Vis. 2009;15:162-7 pubmed
    ..We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations...
  21. Morrison D, Fitzpatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet. 2002;39:16-22 pubmed
    ..No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma...
  22. 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
  23. 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.
  24. Pasutto F, Sticht H, Hammersen G, Gillessen Kaesbach G, Fitzpatrick D, Nurnberg G, et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet. 2007;80:550-60 pubmed
    ..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group...
  25. 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...
  26. Aktekin M, Oz O, Saygili M, Kurtoglu Z. Bilateral congenital anophthalmos and agenesis of the optic pathways. Yonsei Med J. 2005;46:296-9 pubmed
    This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent...
  27. Graham C, Redmond R, Nevin N. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet. 1991;12:43-8 pubmed
    A Northern Ireland family is reported on, in which there is X-linked inheritance of clinical anophthalmos. Multi-point linkage analysis suggests that the gene is localized to the Xq27-28 region (Z = 1.9, Theta = 0...
  28. 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...
  29. Zenteno J, Perez Cano H, Aguinaga M. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. Am J Med Genet A. 2006;140:1899-903 pubmed
    ..We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution...
  30. 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...
  31. Tse D, Pinchuk L, Davis S, Falcone S, Lee W, Acosta A, et al. Evaluation of an integrated orbital tissue expander in an anophthalmic feline model. Am J Ophthalmol. 2007;143:317-327 pubmed
    ..To evaluate the anatomical effects and tissue biocompatibility in a feline model of an integrated orbital tissue expander (OTE) designed to stimulate bone growth in an anophthalmic socket...
  32. 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...
  33. Hagstrom S, Pauer G, Reid J, Simpson E, Crowe S, Maumenee I, et al. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005;138A:95-8 pubmed
  34. Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, et al. Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet. 2009;17:1417-22 pubmed publisher
    ..Our findings indicate that investigation of SOX2 in a broad range of eye anomaly patients aids in the determination of particular functions of SOX2 in development...
  35. Mazzoli R, Raymond W, Ainbinder D, Hansen E. Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos. Curr Opin Ophthalmol. 2004;15:426-31 pubmed
    ..Recent advances in tissue expansion technology may offer additional, novel alternatives to conventional therapies...
  36. 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
  37. Bermejo E, Martínez Frías M. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75:497-504 pubmed
    ..From these statistical associations some pathogenetic relationships in human embryos can be inferred, supporting several previously proposed mechanisms...
  38. Böse J, Gruber A, Helming L, Schiebe S, Wegener I, Hafner M, et al. The phosphatidylserine receptor has essential functions during embryogenesis but not in apoptotic cell removal. J Biol. 2004;3:15 pubmed
    ..To determine the biological function of the phosphatidylserine receptor in vivo, we inactivated the Ptdsr gene in the mouse...
  39. 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...
  40. Ragge N, Brown A, Poloschek C, Lorenz B, Henderson R, Clarke M, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005;76:1008-22 pubmed
    ..The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling...
  41. Galasso C, Bombardieri R, Cerminara C, Stranci G, Curatolo P. Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?. J Child Neurol. 2007;22:1252-5 pubmed
    ..These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome...
  42. Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci G, et al. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns. 2006;17:449-55 pubmed
    b>Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920)...
  43. Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994;7:463-71 pubmed
    ..The pattern of malformations is similar to that in homozygous Sey mice and suggests a critical role for PAX6 in controlling the migration and differentiation of specific neuronal progenitor cells in the brain...
  44. Schneider A, Bardakjian T, Zhou J, Hughes N, Keep R, Dorsainville D, et al. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008;146A:2794-8 pubmed publisher
    ..Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband...
  45. 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...
  46. Guichet A, Triau S, Lépinard C, Esculapavit C, Biquard F, Descamps P, et al. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat Diagn. 2004;24:828-32 pubmed
  47. Sener R. Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma. Comput Med Imaging Graph. 1998;22:409-11 pubmed
    ..Cranial MR imaging examination findings of a three and half year old boy with Waardenburg syndrome are described which consisted of bilateral congenital anophthalmia (secondary type), and a hypothalamic hamartoma...
  48. 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...
  49. Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic Bouriel J, et al. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum Mutat. 2009;30:E673-81 pubmed publisher
    ..The clinical spectrum associated with STRA6 deficiency is even more variable than initially described...
  50. Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, et al. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A. 2009;149A:336-42 pubmed publisher
    ..Further families are needed to confirm this candidate locus...
  51. 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...
  52. Tekin M, Tutar E, Arsan S, Atay G, Bodurtha J. Ophthalmo-acromelic syndrome: report and review. Am J Med Genet. 2000;90:150-4 pubmed
    ..The patient also was found to have interruption of the inferior vena cava with azygos continuation as an additional finding. The previous reports are reviewed to elucidate the spectrum of the syndrome...
  53. Hornby S, Dandona L, Foster A, Jones R, Gilbert C. Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India. Dev Med Child Neurol. 2001;43:392-8 pubmed
    ..to describe clinical findings, pedigrees, and possible environmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India...
  54. 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...
  55. Caksen H, Odabas D, Oner A, Abuhandan M, Calebi V. Ophthalmo-acromelic syndrome in a Turkish infant: case report. East Afr Med J. 2002;79:339-40 pubmed
    ..He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date...
  56. Chassaing N, Gilbert Dussardier B, Nicot F, Fermeaux V, Encha Razavi F, Fiorenza M, et al. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet A. 2007;143A:289-91 pubmed
  57. Williamson K, Hever A, Rainger J, Rogers R, Magee A, Fiedler Z, et al. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006;15:1413-22 pubmed
    ..SOX2, with NMYC and CHD7, is now the third transcriptional regulator known to be critical for normal oesophageal development in humans...
  58. Faivre L, Williamson K, Faber V, Laurent N, Grimaldi M, Thauvin Robinet C, et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A. 2006;140:636-9 pubmed