Combined occurrence of diabetes mellitus and retinitis pigmentosa

Abstract

The combined occurrence of diabetes mellitus (DM) and retinitis pigmentosa (RP) is rare. It has been reported in the form of four different syndromes that are inherited in an autosomal recessive fashion. We describe two cases of DM and RP occurring together. The first case was a 35-year-old male who presented with insulin-treated diabetes, obesity, hypertension, polydactyly, normal cognitive functions, an ataxic gait, blindness secondary to RP, dyslipidemia, impaired renal function, and multiple renal cysts. He was diagnosed clinically as having Bardet-Biedl syndrome. The second case was a 34-year-old male who presented with insulin-resistant diabetes, hypertension, blindness secondary to RP, deafness, normal cognitive functions, primary infertility, renal, and liver impairment. He was diagnosed clinically as having Alstrm syndrome. Because of overlapping clinical manifestations and the cost and time involved in genetic studies, clinical criteria can be used for diagnosis and as a guide for genetic mapping in these patients.