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Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy

Content Provider	Springer Nature Link
Author	Sergouniotis, Panagiotis I. Perveen, Rahat Thiselton, Dawn L. Gianpoulos, Konstantis Sarros, Marios Davies, Jennifer R. Biswas, Susmito Ansons, Alec M. Ashworth, Jane L. Lloyd, I. Christopher Black, Graeme C. Votruba, Marcela
Copyright Year	2014
Abstract	Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated with mutations in the OPA1 and OPA3 genes. To date, only six families with OPA3-associated dominant optic atrophy have been reported. In order to identify additional families, we performed Sanger sequencing of the OPA3 gene in 75 unrelated optic neuropathy patients. Affected individuals from two families were found to harbour the c.313C > G, p.(Gln105Glu) change in heterozygous state; this genetic defect has been previously reported in four dominant optic atrophy families. Intra- and interfamilial variability in age of onset and presenting symptoms was observed. Although dominant OPA3 mutations are typically associated with optic atrophy and cataracts, the former can be observed in isolation; we report a case with no lens opacities at age 38. Conversely, it is important to consider OPA3-related disease in individuals with bilateral infantile-onset cataracts and to assess optic nerve health in those whose vision fail to improve following lens surgery. The papillomacular bundle is primarily affected and vision is typically worse than 20/40. Notably, we describe one subject who retained normal acuities into the fifth decade of life. The condition can be associated with extraocular clinical features: two affected individuals in the present study had sensorineural hearing loss. The clinical heterogeneity observed in the individuals reported here (all having the same genetic defect in OPA3) suggests that the molecular pathology of the disorder is likely to be complex.
Starting Page	69
Ending Page	75
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	16
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-08-27
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	OPA3 Optic atrophy Inherited optic neuropathy 3-methylglutaconic aciduria type III Congenital cataract Genetic ophthalmology Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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