Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
| Autor: | Kym M. Boycott, Pearce Wg, N. Torben Bech-Hansen |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Visual acuity X Chromosome genetic structures Adolescent Calcium Channels L-Type Genetic Linkage Eye disease DNA Mutational Analysis Visual Acuity Dark Adaptation Nystagmus Polymerase Chain Reaction Nystagmus Pathologic Night Blindness Electroretinography Myopia Medicine Humans Point Mutation Genetic variability Eye Abnormalities Strabismus Child Congenital stationary night blindness Genetics business.industry Infant General Medicine Middle Aged medicine.disease eye diseases Pedigree Ophthalmology Child Preschool Mutation (genetic algorithm) Calcium Channels medicine.symptom business X-linked congenital stationary night blindness |
| Zdroj: | Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 35(4) |
| ISSN: | 0008-4182 |
| Popis: | Background: Incomplete X-linked congenital stationary night blindness (CSNB) is a clinically variable condition that has been shown to be caused by mutations in the calcium-channel CACNA1F gene. We assessed the clinical variability in the expression of the incomplete CSNB phenotype in a subgroup of patients of Mennonite ancestry with the same founder mutation. Methods: Sixty-six male patients from 15 families were identified with a common mutation in exon 27 of CACNA1F (L1056insC). Clinical variability in night blindness, reduced visual acuity, myopia, nystagmus and strabismus was examined. Results: At least one of the major features of CSNB (night blindness, myopia and nystagmus) was absent in 72% of the patients. All the examined features varied widely, both between and within families. Interpretation: Although the patients shared a common CACNA1F mutation, there was considerable variability in the clinical expression of the incomplete CSNB phenotype. These findings suggest the presence of other genetic factors modifying the phenotype of this disorder. |
| Databáze: | OpenAIRE |
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