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OPHTHALMOLOGICAL FINDINGS IN INFANTILE TYPE OF SO‐CALLED NEURONAL CEROID LIPOFUSCINOSIS
Author(s) -
RAITTA CHRISTINA,
SANTAVUORI PIRKKO
Publication year - 1973
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1973.tb06044.x
Subject(s) - myoclonic jerk , neuronal ceroid lipofuscinosis , medicine , hypotonia , ataxia , ophthalmology , retinal , atrophy , erg , pediatrics , pathology , myoclonus , disease , psychiatry
The ophthalmological findings in 16 children with infantile type of neuronal ceroid lipofuscinosis are presented. All patients showed signs of a progressive encephalopathy with onset at the age of 8–18 months. Visual failure, ataxia, muscular hypotonia, microcephalia and myoclonic jerks were typical findings. Fluorescein angiography showed narrowing of the retinal vessels and pigmentary dystrophy as well as optic atrophy. The site of the primary defect was thought to be the pigment epithelium and receptor cells. The ERG was abolished.