Leber optic atrophy
MIM.535000
LHON, Leber hereditary optic neuropathy
Etiology
mitochondrial DNA mutations at nucleotide (nt) 3460, 11778, or 14484 (classic LHON mutations)
candidate pathogenic mitochondrial DNA mutations at nts 9804, 13051, and 14325 (#12736867#)
germline mutations in gene RDH12 coding for retinal dehydrogenase 12 (#15322982#)
References
Preising MN, Heegard S. Recent advances in early-onset severe retinal degeneration: more than just basic research. Trends Mol Med. 2004 Feb;10(2):51-4. PMID: #15106616#
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