Retinal defects include cone and rod dystrophy in most affected individuals, with night blindness occurring at childhood, followed by restriction of visual fields. Some patients manifest more severe retinal defects and are diagnosed as Leber Congenital Amaurosis (LCA). Brachydactyly is a frequent finding, usually occurring in the distal phalanges of digits, with some affected individuals presenting hypoplastic nails. Craniofacial anomalies include frontal bossing, large columella, micrognathia, down-slanting palpebral fissures, large and low-set ears, and hypoplasia of nares. Short stature is noted, with height usually being two standard deviations or more below the mean. Neurological features include delays in speech, feeding, and walking as well as intellectual disability. Some patients present with abnormal retinal function.
CWC27