Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Abstract:

:Autosomal dominant hereditary optic atrophy (ADOA), also known as Kjer's syndrome, is a common hereditary cause of progressive bilateral vision loss. Recent advancements in the understanding of the genetics of this condition have revealed that a single gene may account for a large portion of the clinical manifestations in these patients. It has long been recognized that in a not-insignificant number of ADOA patients, a number of "plus" symptoms may follow decades after vision loss. It is important that clinicians recognize the potential link to "plus" manifestations. The goal of this manuscript is to provide for the general ophthalmologist a practical outline of the genetics and clinical manifestations of ADOA and the ADOA+.

journal_name

Semin Ophthalmol

authors

Skidd PM,Lessell S,Cestari DM

doi

10.3109/08820538.2013.825296

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

422-6

issue

5-6

eissn

0882-0538

issn

1744-5205

journal_volume

28

pub_type

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