Retinitis Pigmentosa Inversa With Deafness

Reinstein and Chalfin (1971) reported a syndrome of inverse retinitis pigmentosa (predominant pigmentation around the disc and macula), hypogenitalism, and sensorineural deafness in 2 sisters and a brother, offspring of first-cousin Ashkenazi parents. Deafness progressed slowly after about ages 11, 35, and 40 years. Inverse retinitis pigmentosa differs from the usual type in the absence of night blindness, early loss of central vision, and often a preference for dim illumination.