title: Chromosome abnormalities and the genetics of congenital corneal opacification.
abstract: Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.
authors: Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital, London, UK.
authors: A
authors: A
authors: Mataftsi
authors: L
authors: L
authors: Islam
authors: D
authors: D
authors: Kelberman
authors: J C
authors: JC
authors: Sowden
authors: K K
authors: KK
authors: Nischal
mesh_terms: D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000737:chemistry / Q000235:genetics; D003315:Cornea / Q000002:abnormalities / Q000378:metabolism; D003318:Corneal Opacity / Q000145:classification / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D016206:Databases, Bibliographic; D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D005136:Eye Proteins