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SS Dandekar, CA Egan, AJ Hardcastle, AC Bird, AR Webster; Inherited Macula and Peripapillary Retinal Atrophy Due to Mutation in the RP2 Gene . Invest. Ophthalmol. Vis. Sci. 2002;43(13):805.
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Purpose: To characterise the clinical phenotype and molecular diagnosis in a family presenting with bilateral and progressive central visual loss. Methods: Family members were clinically examined; DNA was extracted and the coding region of the RP2 gene screened for mutations using SSCP (single stranded conformation polymorphism) and sequencing. Results: The proband showed preserved peripheral fields, corrected visual acuities of 2/60 and many non-contiguous areas of retinal atrophy at the posterior pole and peripapillary retina. The mother of the proband suffered central visual loss at a later age and shared a similar fundoscopic appearance. The proband's brother was known to suffer from retinal dystrophy. Although autosomal dominant retinal dystrophy with variable penetrance was suspected, the fact that the mother was less severely affected led to the screening for mutations in X- linked retinal disease genes. A novel mutation was detected in the coding region of RP2, the two brothers and the mother being hemizygous and heterozygous respectively. Conclusion: This study suggests that mutation of RP2, a gene known to characterise X-linked retinitis pigmentosa, can cause central retinal dystrophy. The finding of a mutation in an X-linked gene has important implications for the counselling of the patient and the family as well as the management of unaffected family members. We encourage clinicians to have a low threshold for screening RP2 in families with retinal dystrophy and a pedigree not inconsistent with X-linked inheritance.
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