title: A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy.
abstract: A 28-year old woman had an ocular syndrome consisting of congenital lid and punctal anomalies, and corneal and chorioretinal dystrophy without facial dysmorphism. These combined malformations of the ocular adnexae and both anterior and posterior ocular segments have not been previously described and appear to represent a novel syndrome. Direct sequencing of PAX6 and the DNA-binding domain of FOXC1 failed to detect a mutation.
authors.affiliation: Ocular Genetics Laboratory, Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada T6G 2H7.
authors.forename: Thomas K M
authors.initials: TK
authors.lastname: Lee
authors.forename: Marc
authors.initials: M
authors.lastname: Hébert
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
mesh_terms: D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology*; D004268:DNA-Binding Proteins; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005136:Eye Proteins; D005143:Eyelids / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities* / Q000473:pathology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors