Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant
optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring …

Background Up to the 1950s, there was an ongoing debate about the diversity of hereditary
optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

Purpose Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic
neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during …

INTRODUCTION: Pathogenic mutations in the OPA1 gene are the most common identifiable
cause of autosomal dominant optic atrophy (DOA), which is characterized by selective …

Sir, Autosomal dominant optic atrophy (DOA) is a common cause of inherited visual failure
affecting at least 1 in 35000 of the general population (Yu-Wai-Man et al., 2010a) …

Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition
characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss …

The genetic diagnosis in inherited optic neuropathies often remains challenging, and the
emergence of complex neurological phenotypes that involve optic neuropathy is puzzling …

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic
atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these …

Background Mutations in OPA3 have been reported in patients with autosomal dominant
optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a …