Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001.

Ocular and dermatologic health effects of ultraviolet radiation exposure from the ozone hole in southern Chile.

OBJECTIVES: This study sought to investigate numerous reports emanating from Punta Arenas, Chile (population 110,000, latitude 53 degrees S), that associated acute ocular and dermatologic disease in humans and animals with excess ultraviolet-B (UV-B) exposure in the setting of the thinning of the ozone column. METHODS: Ophthalmologic and dermatologic records in Punta Arenas were systematically reviewed to enumerate sentinel diagnoses potentially associated with UV-B exposure, ocular examinations on representative animal populations were performed, and the ambient UV-B exposure in the region during the time of maximal thinning was estimated. RESULTS: No increase in patient visits or conditions attributable to UV-B exposure was seen for periods of known ozone depletion compared with control periods. Although ambient UV-B exposure was 1.6 to 2.3 times the habitual exposure on individual days, this excess exposure conferred only a 1% increase in annual exposure on the region. CONCLUSION: This study does not support existing lay reports of ocular and dermatologic disease in humans and animals that had been associated with the ozone hole over southern Chile.