Visual recovery patterns in children with Leber's hereditary optic neuropathy.
Three patients with Leber's hereditary optic neuropathy (LHON) showed spontaneous improvement in visual acuities after months of legal blindness. Two male patients with bilateral subacute visual loss were 14 years of age at presentation. The first male patient had a mitochondrial DNA mutation at nucleotide position 11778. The second male patient was found to be negative for the designated primary mutations (11778, 14484, 3460) and two of the secondary mutations (15257, 9804). The third patient was a 20-year-old female who presented with bilateral optic atrophy. She had been diagnosed as LHON and was found positive for the 3460 mutation when she was 15. These patients' pattern of visual recovery by developing small islands of normal vision within a central scotoma is characteristic in such rare cases of LHON.
Acaroğlu
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G
Social Security Eye Hospital, Neuro-ophthalmology & Orbital Disease Unit, Ankara, Turkey. golgetilki@yahoo.com
Kansu
T
T
Doğulu
C F
CF
D000293:Adolescent; D000328:Adult; D001483:Base Sequence / Q000235:genetics; D001766:Blindness / Q000209:etiology* / Q000503:physiopathology*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics; D020127:Recovery of Function; D012607:Scotoma / Q000209:etiology / Q000503:physiopathology; D015348:Vision, Binocular; D014792:Visual Acuity; D014794:Visual Fields
D004272:DNA, Mitochondrial