- Child becomes apathetic, hypotonic and sensitive to sound (abnormal startle reflex)
- Progressive neurological deterioration and seizures followed by paralysis, dementia and blindness
- Death usually by 24 to 30 months of age
- Cherry red spot by 6 months of age- can disappear as ganglion cells die
- Decreased vision by 12-18 months of age
- Nystagmus
- Optic atrophy
- Narrowing of retinal vessels
- Hexosaminidaze A isoenzyme deficiency
- Gene map locus: 15q23-q24
- Autosomal recessive
- Carrier 1:300 in non Jews and 1:30-40 in Jews of European extraction in US and Canada
- Incidence 1:4000 in Ashkenazi Jews
- Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
- OMIM #272800
oculoman