Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
Twenty-six children with juvenile Batten's disease are reviewed. On clinical and histological evidence they appear to represent a specific disease entity, which though rare is a substantial cause of blindness in children aged 5--15 years. Children present with rapid progressive visual loss at age 6--7 years, early mental deterioration, and fits about 2--4 years later, and this is the stage at which the diagnosis is usually made. Macular degeneration appears to be a consistent early feature, and peripheral retinal changes become more marked as the disease progresses. Phototoxicity may possibly play a part in the retinal degeneration.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis / Q000473:pathology*; D008214:Lymphocytes / Q000473:pathology; D008268:Macular Degeneration / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D009474:Neurons / Q000473:pathology; D012007:Rectum / Q000473:pathology; D012640:Seizures / Q000175:diagnosis; D013577:Syndrome