Retinitis pigmentosa: distribution of inheritance patterns in a VA blind rehabilitation center population

Abstract

Objectives: This purpose of this study was to characterize retinitis pigmentosa (RP) patients at the Southeastern Blind Rehabilitation Center (SBRC) by inheritance pattern, and compare the results with similar studies. Study Design: Records of all RP patients who were in the blind rehabilitation program at the SBRC between 1989 and 1993 were reviewed (n=50). Patients were included in the study who could be personally contacted and whose records were complete (n=43). Pedigrees were obtained through review of records and patient interviews. Results: The analysis showed 24 patients (55.8%) were simplex (no family history of RP), 8 patients (18.6%) were autosomal dominant, 4 patients (9.3%) were probable autosomal dominant, 4 patients (9.3%) were autosomal recessive, 2 patients (4.7%) were probable autosomal recessive and 1 patient (2.3%) was X-linked recessive. Conclusions: Unique trends were apparent in the distribution of inheritance patterns. Clinicians should be aware of the large number of simplex patients found in this and the majority of similar studies.