Optic atrophy, autosomal dominant

Results 161 to 170 of about 9,987 (182)

Some of the next articles are maybe not open access.

Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy

Acta Ophthalmologica, 2022
Massimo Cesareo, Clarissa Giannini, Matteo Di Marino +2 more
exaly

Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1986
A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other
G, Gorgone +5 more
openaire +1 more source

Acta Ophthalmologica, 2022
Christina Eckmann-Hansen, Toke Bek, Birgit Sander +2 more
exaly

Autosomal Dominant Optic Atrophy Kjer Type

2009
Hubert Scharnagl +199 more
openaire +1 more source

Autosomal Dominant Optic Atrophy

2018
openaire +1 more source

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Ophthalmic Genetics, 2020
Abhimanyu S Ahuja, Haytham Helmi, Thomas R Caulfield +2 more
exaly

Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

Seminars in Ophthalmology, 2013
S Lessell
exaly

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Human Mutation, 2003
Olivier R Baris +2 more
exaly

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy