Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism

Edwards et al. (1976) described a family in which 3 brothers and a sister had retinitis pigmentosa, deafness, and mental retardation. Nystagmus, acanthosis nigricans and multiple keloids were also present. The males had gynecomastia, small testes, and mild subvirilization. The only indication of hypogonadism in the female was oligomenorrhea. Disturbance of glucose metabolism and hyperinsulinism were demonstrated in some. Boor et al. (1993) described affected brother and sister of Moroccan origin who had first-cousin parents. They had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Other features were pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman, aged 18 years, had secondary amenorrhea and polycystic ovaries; her brother, aged 15 years, had gynecomastia and hypergonadotropic hypogonadism. This condition, in which the hypogonadism is secondary and polydactyly is not present, is similar to, but distinct from, the syndromes of Laurence-Moon (245800) and Biedl-Bardet (209900). It is distinguished from Alstrom syndrome (203800) by the presence of mental retardation and the absence of renal insufficiency. There are some similarities to Usher syndrome (276900).