OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

Abstract

OPA1 mutations existed in three Japanese families with ADOA. After a detailed clinical assessment of the proband, the screening of the OPA1 gene may be helpful for precise diagnosis of ADOA, provided the relevant information of the family members is limited.

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novelOPA1pathogenic variants

“…The severity of the phenotypes varied greatly among and between the eight Chinese ADOA families, consistent to other studies (36–38). BCVA of the ADOA patients in our study ranged from light perception to 0.4.…”

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

“…10 Severe syndromes affecting young children, due to recessive OPA1 inheritance, were also recently reported. 5,11,12 Although ADOA is an ubiquitous condition, [13][14][15][16][17][18] several studies have reported its possibly lower incidence in Asia. 19,20 Our aim was to investigate, for the first time, its occurrence in the multiethnic population of Singapore.…”