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A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report
Author(s) -
Mishima Hiromu,
Hirata Hisao,
Ono Hideyuki,
Choshi Kanji,
Nishi Yoshikazu,
Fukuda Kiyotaka
Publication year - 1985
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.1755-3768.1985.tb01528.x
Subject(s) - medicine , congenital muscular dystrophy , choroid , retina , atrophy , fundus (uterus) , muscular dystrophy , hypotonia , ophthalmology , anatomy , pathology , pediatrics , psychology , neuroscience
. A three‐year‐ten‐month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of muscular hypotonia, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described. Hyperornithinaemia and iminoglycinuria were not noted. To our knowledge, this is the first reported case of FCMD associated with atypical gyrate atrophy of the choroid and retina.