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Human case
Author(s) -
Hamel C.,
Bocquet B.,
Manes G.,
Meunier I.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.01354
Subject(s) - ophthalmology , fundus (uterus) , visual acuity , medicine , retinal , erg , optometry
Summary We will present two cases of early onset, possibly congenital, retinal dystrophies, in children, who do not have Leber congenital amaurosis. Visual acuity is decreased, and the fundus shows serpentine like images, most visible in infrared. OCT evidences abnormal retinal structure. ERG has been performed. Molecular genetics is undergoing.