AC Cohn, C Toomes, AW Hewitt, LS Kearns, … - British Journal of Ophthalmology, 2008 - bjo.bmj.com Results: OPA1 mutation carriers (n = 158) were identified in 11 ADOA pedigrees.
Sixty-nine mutation carriers were available for longitudinal follow-up. Using
the right eye as the default, best-corrected visual acuity (BCVAR) remained ... Cited by 4 - Related articles - All 3 versions
J Makhoul, M Cordonnier, C Van Nechel - Bulletin de la Société belge d'ophtalmologie, 2002 - ncbi.nlm.nih.gov This report describes a 36-year-old female with bilateral optic atrophy.
Physical examination was normal except for subclinical signs of lower limbs
spasticity. Her father was affected of Strumpell-Lorrain disease. The ... Cited by 3 - Related articles
- ►nih.gov P Yu-Wai-Man, PG Griffiths, G Hudson, PF … - British Medical Journal - jmg.bmj.com Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy
(DOA) are the two most common inherited optic neuropathies and they result in
significant visual morbidity among young adults. Both disorders are the ... Cited by 3 - Related articles - All 4 versions
DO Atrophy - bjo.bmj.com Page 1. doi: 10.1136/bjo.2007.134726 published online July 24, 2008 Br J Ophthalmol
Amy C Cohn, Carmel Toomes, Alex W Hewitt, et al. Dominant Optic Atrophy. ... Related articles
C Verny, P Amati-Bonneau, F Dubas, Y … - Revue neurologique, 2005 - ncbi.nlm.nih.gov INTRODUCTION: In 1961, Garcin et al. described a family with several members
affected with optic atrophy associated with cataract, and neurological symptoms.
The authors believed this condition to be distinct from other diseases ... Cited by 5 - Related articles
G Hudson, V Carelli, R Horvath, M Zeviani, … - Mol Vis, 2007 - molvis.org Purpose: Leber hereditary optic neuropathy (LHON) is a common cause of
genetically determined blindness in young adults. LHON preferentially affects
males and is primarily due to a mutation affecting complex I genes of ... Cited by 5 - Related articles - Cached - All 4 versions
V Davies, M Votruba - Experimental eye research, 2006 - Elsevier The OPA1 gene (accession numbers: NM 012062, OMIM 605290, GenBank AB011139,
SwissProt 060313) maps to chromosome 3q28-q29. It comprises 29 exons spanning
more than 100 kb genomic DNA, of which 28 are coding exons. The gene ... Cited by 5 - Related articles - All 3 versions
L Spruijt, HJ Smeets, A Hendrickx, MW … - Archives of neurology, 2007 - Am Med Assoc Design Leber hereditary optic neuropathy is a mitochondrial disorder
characterized by isolated central visual loss. Of patients with LHON, 95% carry
a mutation in 1 of 3 mitochondrial DNA–encoded complex I genes. The ... Cited by 6 - Related articles - BL Direct - All 6 versions
T Okuno, H Oku, M Kondo, Y Miyake, J … - Clinical & experimental ophthalmology, 2007 - ncbi.nlm.nih.gov Occult macular dystrophy (OMD) is an unusual inherited or sporadic macular
dystrophy characterized by an essentially normal appearing ocular fundus and
normal ocular circulation determined by fluorescein angiography but with a ... Cited by 1 - Related articles
