A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy.

Publication Type:

Journal Article

Authors:

Lee, Thomas K M; Marc Hébert; MacDonald, Ian M

Source:

Ophthalmic Genet, Volume 24, Issue 2, p.111-6 (2003)

Keywords:

Adult, Corneal Dystrophies, Hereditary, DNA-Binding Proteins, Eye Abnormalities, Eye Proteins, Eyelids, Female, Forkhead Transcription Factors, Homeodomain Proteins, Humans, Lacrimal Apparatus, Paired Box Transcription Factors, Repressor Proteins, Retinal Degeneration, Syndrome, Transcription Factors

Abstract:

<p>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.</p>