Leber’s hereditary optic neuropathy - case report
Author(s) -
Mirjana A. Janicijevic Petrovic,
Tatjana Vulović,
Nenad Petrović,
Sunčica Srećković,
Svetlana Paunović,
Katarina Janićijević,
Dejan Vulović,
Dragan Vujić
Publication year - 2012
Publication title -
journal of health sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 3
eISSN - 2232-7576
pISSN - 1986-8049
DOI - 10.17532/jhsci.2012.54
Subject(s) - optic neuropathy , leber's hereditary optic neuropathy , medicine , visual acuity , family history , blind spot , pediatrics , disease , genetic testing , ophthalmology , pathology , optic nerve , surgery , neuroscience , biology
Leber’s hereditary optic neuropathy is a neuro-ophthalmological entity characterized by acute or subacute bilateral, not simultaneous visual loss with centro cekal scotoma and occasional further visual improvement. This rare ophthalmological disease can be accompanied with dyschromatopsia. It is associated with a matrilineal inheritance pattern. Its diagnosis used to be solely clini¬cal, aided by imaging and neuro-physiological studies, until the advent of descriptions of mitochondrial biochemical abnormalities and genetic testing. We describe a case of 24 year old male with progressive painless deterioration of visual acuity and positive family history.
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