Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1

Citation
Sm. Downes et al., Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1, ARCH OPHTH, 119(11), 2001, pp. 1667-1673
Citations number
37
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Optalmology,"da verificare
Journal title
ARCHIVES OF OPHTHALMOLOGY
ISSN journal
0003-9950 → ACNP
Volume
119
Issue
11
Year of publication
2001
Pages
1667 - 1673
Database
ISI
SICI code
0003-9950(200111)119:11<1667:ADCDWM>2.0.ZU;2-K
Abstract
Objective: To describe the phenotype in 4 families with dominantly inherite d cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cycla se-1. Methods: Psychophysical and electrophysiological evaluation and confocal la ser scanning ophthalmoscopic imaging was performed on 10 affected members o f 4 British families. Results: Although subjects had lifelong poor vision in bright light, a majo r reduction in visual acuity did not occur in most of them until after thei r late teens. Fundus abnormalities were confined to the central macula, and increasing central atrophy was noted with age. Increased background autofl uorescence was observed surrounding the central atrophic area. Electrophysi ological testing revealed a marked loss of cone function with only minimal rod involvement, even in older subjects. Photopic and scotopic static perim etry demonstrated central and peripheral cone-mediated threshold elevations with midperipheral sparing. Conclusion: The phenotype associated with autosomal dominant cone-rod dystr ophy with either an R838C or R838H mutation in GUCY2D is distinctive, with predominantly cone system involvement. There is some variation in severity within the 3 families with the R838C mutation. Clinical Relevance: Families with the R838C or R838H mutation have a much m ilder phenotype than the family previously described that had 2 sequence ch anges, E837D and R838S, in GUCY2D.