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Familial optic atrophy with white matter changes
Author(s) -
Vinkler Chana,
Lev Dorit,
Kalish Hadas,
Watemberg Nathan,
YanoovSharav Miri,
LeshinskySilver Esther,
LermanSagie Tally
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20238
Subject(s) - atrophy , white matter , optic neuropathy , pathology , blindness , medicine , mitochondrial dna , optic nerve , leber's hereditary optic neuropathy , genetics , biology , ophthalmology , magnetic resonance imaging , gene , optometry , radiology
We report two brothers who suffer from infantile onset optic atrophy and blindness. MRI of the brain demonstrated periventricular white matter changes in both children. Neurological and develelopmental examination are normal. Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome. © 2003 Wiley‐Liss, Inc.