Microphthalmia with Coloboma, X-Linked Clinical CharacteristicsOcular Features: Isolated colobomatous microphthalmia is caused multiple mutations and usually inherited in an autosomal dominant pattern. Type 1 is an X-linked disorder with typical features of small eyes, small corneas, colobomas, and elevated intraocular pressures. Systemic Features: By definition no systemic disease is present. GeneticsThe combination of colobomas and microphthalmia is found in numerous heritable syndromes but also occurs in isolation. X-linked syndromes with this combination usually include mental retardation and cataracts but these are absent in the isolated type described here. A locus on the X chromosome was identified to lie either on the proximal short arm or the proximal long arm but no specific mutation or gene has been identified. In the single multigenerational reported family, all affected individuals were male except for one female in whom non-random X-inactivation was postulated. Syndromal forms of X-linked microphthalmia with coloboma (309800 ) have also been reported. Pedigree: X-linked recessive, carrier motherX-linked recessive, father affectedTreatmentTreatment Options: No treatment is available for the malformations but low vision aids should be considered for appropriate individuals. ReferencesArticle Title: Genetic mapping of a novel X-linked recessive colobomatous microphthalmia Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet. 2001 Jun 15;101(2):114-9. PubMed ID: 11391653 Read more about Microphthalmia with Coloboma, X-Linked
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet. 2001 Jun 15;101(2):114-9. PubMed ID: 11391653
