Article
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
Clinical & experimental ophthalmology - 1 Apr 2005
Hope Carolyn I, Sharp Dianne M, Hemara-Wahanui Ariana, Sissingh Jennifer I, Lundon Patricia, Mitchell Ed A, Maw Marion A, Clover Gillian M
Abstract excerpt
PURPOSE: To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene responsible for incomplete congenital stationary night blindness (CSNB2). METHODS: Members of the family tree were invited for clinical, psychophysical and electrodiagnostic evaluation. RESULTS: Male family members had severe non-progressive visual...
Topics
- Adolescent
- Adult
- Aged
- Calcium Channels, L-Type
- Child
- Child, Preschool
- Color Vision Defects
- Dark Adaptation
- Electroretinography
- Female