Article
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
The British journal of ophthalmology - 1 Jun 2011
Henderson Robert H, Mackay Donna S, Li Zheng, Moradi Phillip, Sergouniotis Panagiotis, Russell-Eggitt Isabelle, Thompson Dorothy A, Robson Anthony G, Holder Graham E, Webster Andrew R, Moore Anthony T
Abstract excerpt
OBJECTIVES: To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the retinal phenotype and visual prognosis. DESIGN: A hospital-based cross-sectional study of children and adults with recessive retinal dystrophies. PARTICIPANTS: Three hundred and six patients with Leber congenital amaurosis (LCA), early-onset childhood retinal dystrophy or juvenile onset...
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