Retinitis pigmentosa in Puerto Rico

ABSTRACT

INTRODUCTION: Previous studies have reported that the prevalence of retinitis pigmentosa (RP) varies between one per 3,000 to one in per 5,000 in the general population. PURPOSE: To study the incidence and ocular findings of RP in a sub-urban community in Puerto Rico. METHODS: We conducted a non-concurrent prospective study of 10,100 patients in a sub-urban San Juan community. RESULTS: 44 out of the 10,100 patients had RP (0.44). Eight out of the 44 patients (18) had nystagmus, twenty-eight (31.8) had microcornea, 3 patients (6.8) had sluggish papillary reaction. Six patients (13.6) had mild cataracts, 27 (65.9)had attenuated retinal vessels and thirty five patients (81.4) had bony spicules. Fifteen patients (34.1) out of the 44 had retinitis pigmentosa as part of the Bardet-Biedl syndrome. CONCLUSION: Incidence of RP in Puerto Rico is higher when compared to Maine and Spain (p < 0.001). Autosomal recessive pattern of inheritance is the most common in Puerto Rico. These findings could be due to the island's geographic isolation, and inbreeding.