Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.
We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.
Pihko
H
H
Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, Finland.
Lappi
M
M
Raitta
C
C
Sainio
K
K
Valanne
L
L
Somer
H
H
Santavuori
P
P
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000150:complications; D002648:Child; D005074:Evoked Potentials, Visual; D005123:Eye / Q000473:pathology*; D005124:Eye Abnormalities; D005260:Female; D005500:Follow-Up Studies; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000473:pathology*; D009216:Myopia / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology; D012162:Retinal Degeneration / Q000209:etiology