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Retinitis pigmentosa (RP) is a heterogeneous group of retinal dystrophies characterized by photoreceptor cell degeneration. RP causes night blindness, a gradual loss of peripheral visual fields, and eventual loss of central vision. Advances in molecular genetics have provided new insights into...
Purpose: To identify mutations in the rhodopsin ( RHO ) gene in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) and to measure the prevalence rate of RHO mutations in Chinese ADRP cases. Methods: Thirteen Chinese families with ADRP were clinically characterized. The complete...
We have ascertained a large number of individuals and families with exfoliation syndrome in order to clarify the disorder’s mode of inheritance. Patients with exfoliation syndrome and their relatives were recruited from the practices of a group of ophthalmologists in Maritime Canada. The degree...
Purpose: To characterize a Chinese family with inherited retinitis pigmentosa (RP). Methods: Linkage studies and haplotype analysis were used for gene mapping, and single-strand conformation polymorphism (SSCP) analysis and direct DNA sequence analysis were used for identifying the responsible...
Purpose: To report a new phenotype in retinitis pigmenotosa (RP) patients with CRB1 mutations at the RP12 locus. Patients: Thirty-seven patients from two Pakistani families with severe retinitis pigmentosa. Methods: Samples were screened with single-strand conformation polymorphism analysis...
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