title: Ocular abnormalities in a patient with partial deletion of chromosome 6p. A case report.
abstract: We report on a patient with a de-novo deletion of chromosome 6p. This male infant presented with multiple systemic congenital defects together with an unusual ocular phenotype. Slit-lamp examination revealed thin, opaque, rectilinear bands within the anterior segment partially connecting iris to corneal endothelium. These were associated with bilateral hyperopia and optic nerve hypoplasia. Ocular abnormalities in such patients have been documented although the number of individuals is small and identical cytogenetic defects are rarely encountered. We compare the clinical findings in this case with previously described phenotypes. Characterisation of such cases is important as it is becoming apparent that deletion of genetic information encoded on chromosome 6p has implications for ocular embryogenesis.
authors.affiliation: Department of Ophthalmology, Royal Victoria Infirmary, Claremont Wing, Newcastle upon Tyne, UK.
authors.forename: L M
authors.initials: LM
authors.lastname: Walsh
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
authors.forename: M P
authors.initials: MP
authors.lastname: Clarke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006956:Hyperopia / Q000235:genetics; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities