The RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

Objectives: To assess the phenotype of patients with X-linked retinitis pigmentosa (XLRP) with RP2 mutations and to correlate the findings with their genotype. Methods: Six hundred eleven patients with RP were screened for RP2 mutations. From this screen, 18 patients withRP2 mutations were evaluated clinically with standardized electroretinography, Goldmann visual fields, and ocular examinations. In addition, 7 well-documented cases from the literature were used to augment genotype-phenotype correlations. Results: Of 11 boys younger than 12 years, 10 (91%) had macular involvement and 9 (82%) had bestcorrected visual acuity worse than 20/50. Two boys from different families (aged 8 and 12 years) displayed a choroideremia-like fundus, and 9 boys (82%) were myopic (mean error, �7.97 diopters [D]). Of 10 patients with electroretinography data, 9 demonstrated severe rod-cone dys