Mt. Dotti et al., OPTIC ATROPHY IN MARINESCO-SJOGREN SYNDROME - AN ADDITIONAL OCULAR FEATURE - REPORT OF 3 CASES IN 2 FAMILIES, Ophthalmic paediatrics and genetics, 14(1), 1993, pp. 5-7
Marinesco-Sjogren syndrome (MSS) is a rare inherited disease with neur
ological and ocular manifestations. The latter include bilateral catar
acts and, less frequently, nystagmus and strabismus. The authors repor
t here three cases of MSS syndrome, all with optic atrophy, an additio
nal ocular feature not hitherto described in this syndrome.