retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

This condition is an extremely rare syndrome that affects the eyes, hearing, and several other parts of the body. People with this condition have a type of eye disease called pigmentary retinopathy, which affects how the eyes process light. They may also have diabetes mellitus with high levels of insulin and changes in the skin known as acanthosis nigricans. Additional features include the development of secondary cataracts and neurogenic deafness. In males, there is often short stature and mild hypogonadism, while females may have polycystic ovaries with infrequent menstrual periods. Intellectual disability is also a key feature of this syndrome, setting it apart from other similar conditions such as Alstrom syndrome.

The symptoms include pigmentary changes in the retina, which can impact vision, and diabetes with hyperinsulinism. Other common signs are acanthosis nigricans (a darkening of the skin), secondary cataracts, and neurogenic deafness. Boys may show signs of hypogonadism, and girls may experience polycystic ovaries and irregular menstrual cycles. Short stature and intellectual disability are also part of the syndrome.

The condition is believed to be inherited in an autosomal recessive manner, meaning that a person needs to inherit a faulty gene from both parents. Information about specific genes involved is not available. This genetic pattern has been observed based on the characteristics described in people with the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. There have been no further descriptions in the literature since 1993.