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Importance of electroretinogram in bull’s eye maculopathy
Author(s) -
HALFELD FURTADO DE MENDONCA R,
KOK F,
ROSEMBERG S,
YUKIHIKO TAKAHASHI W
Publication year - 2009
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.1755-3768.2009.2146.x
Subject(s) - scotopic vision , maculopathy , photopic vision , electroretinography , medicine , erg , ophthalmology , anatomy , pallor , optometry , retinal , retinopathy , surgery , endocrinology , diabetes mellitus
Purpose To describe the retinographic, electroretinographic and ultra‐structural alteration in a interesting family case of bull’s eye maculopathy. Methods A 14‐year‐old boy, his brother a 12‐year‐old boy and his sister a 10‐year‐old girl with visual loss, underwent complete ophthalmological exams, including retinography, electroretinography (ERG) and ultrastructural study by electron microscopy of the skeletal muscle, at the Clinical Hospital of the University of São Paulo. Results All three children presented optic nerve pallor, arteriolar thinning and bull’s eye maculopathy. The scotopic responses were absent or with low amplitude contrasting with normal flicker responses. Electron microscopy study detected the curvilinear bodies typical from Neuronal Ceroid Lipofucinosis (NCL). Conclusion The initial diagnose of those children was cone‐rod dystrophy. Diagnosis of NCL was established by normal ERG flicker and findings of characteristic electron microscopic curvilinear bodies. The electrophysiologic testing are very important in the early diagnosis of NCL.