Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Résumé
Background/aims: To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the retinal phenotype and visual prognosis. Methods: Patients with Leber congenital amaurosis, childhood onset retinal dystrophy and autosomal recessive retinitis pigmentosa were recruited to the study. A detailed clinical examination was performed and the results of electrophysiological testing reviewed. DNA was obtained for molecular genetic analysis. Initial screening for mutations was performed using the LCA chip (Asper Ophthalmics) and subsequent direct sequencing was performed to confirm the chip findings and to identify novel sequence variants. Results: Mutations in CRB1, including 17 novel mutations, were identified in 41 patients from 32 families; both disease mutations were identified in 34 patients from 26 families. Common phenotypic features included hypermetropic refractive error; nummular pigmentation at the level of the RPE; and increased retinal thickness on OCT. A minority of patients developed peripheral retinal telangiectasia, which in some cases led to seclusio pupillae and angle closure glaucoma. Conclusion: Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies. Although the phenotype is usually severe, in milder cases there is a window of opportunity for therapeutic intervention in early childhood.
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