Open AccessA ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
Author(s) -
Isabelle Meunier,
Béatrice Bocquet,
Majida Charif,
ClaireMarie Dhaenens,
Gae͏̈l Manes,
Patrizia AmatiBonneau,
Agathe Roubertie,
Xavier Zanlonghi,
Guy Lenaers
Publication year - 2020
Publication title -
retina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.24
H-Index - 120
eISSN - 1539-2864
pISSN - 0275-004X
DOI - 10.1097/iae.0000000000003054
Subject(s) - atrophy , ophthalmology , medicine , electroretinography , visual acuity , macular dystrophy , retinal , optic neuropathy , dystrophy , pathology , optic nerve
RTN4IP1 biallelic mutations cause a recessive optic atrophy, sometimes associated to more severe neurological syndromes, but so far, no retinal phenotype has been reported in RTN4IP1 patients, justifying their reappraisal.