CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

Mays Talib, Mary J van Schooneveld, Alberta A Thiadens, Marta Fiocco, Jan Wijnholds, Ralph J Florijn, Nicoline E Schalij-Delfos, Maria M van Genderen, Hein Putter, Frans P M Cremers, Gislin Dagnelie, Jacoline B Ten Brink, Caroline C W Klaver, L Ingeborgh van den Born, Carel B Hoyng, Arthur A Bergen, Camiel J F Boon

Research output: Contribution to journalArticleResearchpeer-review

Abstract

PURPOSE: To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations.

METHODS: A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies.

RESULTS: Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57.1). The median age at symptom onset was 5.0 years (range 0-14 years) for patients with RP and 23.0 years (range 0-60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity <0.05) at the age of 40 was 20% and 55% in patients with RP and COD/CORD, respectively. RPGR-ORF15 mutations were associated with high myopia (P = 0.01), which led to a faster best-corrected visual acuity decline in patients with RP (P < 0.001) and COD/CORD (P = 0.03). Patients with RP with RPGR-ORF15 mutations had a faster visual field decline (P = 0.01) and thinner central retina (P = 0.03) than patients with mutations in exon 1 to 14.

CONCLUSION: Based on best-corrected visual acuity survival probabilities, the intervention window for gene therapy for RPGR-associated retinal dystrophies is relatively broad in patients with RP. RPGR-ORF15 mutations were associated with COD/CORD and with a more severe phenotype in RP. High myopia is a risk factor for faster best-corrected visual acuity decline.

Original languageEnglish
Pages (from-to)1186-1199
Number of pages14
JournalRetina
Volume39
Issue number6
DOIs
Publication statusPublished - Jun 2019

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