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Importance of electron microscopy in neuronal ceroid lipofucinosis
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.1755-3768.2009.3322.x
Subject(s) - photopic vision , retinitis pigmentosa , scotopic vision , lipofuscin , electroretinography , medicine , retinal , erg , ophthalmology , pathognomonic , anatomy , pathology , disease
Purpose To describe the electroretinographic and ultra‐structural alteration in a very rare family case of Neuronal Ceroid Lipofucinosis (NCL). Methods A 7‐year‐old boy and his brother a 5‐year‐old boy with NCL of juvenile type, underwent complete ophthalmological exams, including retinography, electroretinography and ultra structural study of the conjunctiva. Results Both children presented optic nerve pallor and arteriolar narrowing. The fundoscopy of the oldest boy showed bone‐spicule changes. The ERG scotopic (rod and maximal) and photopic (cone) responses were absent. The flicker responses were absent in the oldest brother and severely reduced in the youngest brother. It could be a typical case of retinitis pigmentosa. The electron microscopy study of the conjunctiva, detected the curvilinear bodies typical from Neuronal Ceroid Lipofucinosis (NCL). Conclusion The retinal and electroretinographic changes were typical from retinitis pigmentosa. The electron microscopy study is an important tool in LCN diagnosis.