(Derry Disease)
- Slowly progressive generalized neurodegneration and mild skeletal changes
- Locomotor ataxia usually first sign, followed by progressive psychomotor deterioration and seizures
- Decerebrate and rigid by end of second year of life
- Onset 7 months to 3 years
- Death by age 3-10 years
- Nystagmus
- Esotropia
- Optic Atrophy
- Defect in ß-galactosidase-1- missing B and C isoenzymes
- Autosomal recessive
- Gene map locus: 3p21.33
- Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
- OMIM #230600
oculoman