RARE AUTOSOMAL RECESSIVE DISORDER WITH MENTAL RETARDATION, OPTIC ATROPHY, DWARFISM, NEURAL DEAFNESS, PHOTOSENSITIVITY, CATARACT, RETINAL PIGMENTARY DEGENERATION. CEREBELLAR, PYRAMIDAL, EXTRAPYRAMIDAL DEFICITS & PERIPHERAL NEUROPATHY MAY OCCUR BIRD HEADED FACIAL APPEARANCE & NORMAL PRESSURE HYDROCEPHALUS
* FUNDUS EXAM -