Microphthalmia, Syndromic 4 Clinical CharacteristicsOcular Features: In several generations of an Irish family, 7 males with clinical anophthalmia were identified. Ankyloblepharon was also present and X-rays of the orbits were identified. Systemic Features: One patient was born with a cleft soft palate and had preauricular skin tags. All individuals were considered to be mentally retarded with IQ's less than 50. GeneticsMCOPS4 is an X-linked condition based on a single reported family. The responsible mutation has not been identified but a locus (Xq27-q28) likely to contain the gene has been identified by multipoint linage analysis. Pedigree: X-linked recessive, carrier motherX-linked recessive, father affectedTreatmentTreatment Options: No treatment is known. ReferencesArticle Title: X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28 Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet. 1991 Mar;12(1):43-8. PubMed ID: 1679229 Read more about Microphthalmia, Syndromic 4
X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28 Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet. 1991 Mar;12(1):43-8. PubMed ID: 1679229
