Hereditary colobomatous anomalies of the optic nerve head

The authors describe a family showing coloboma of the optic nerve associated with chorioretinal coloboma and coloboma of the iris. The absence of its occurrence in association with extraocular malformations points to an autosomal dominant mode of transmission, with reduced penetration. The authors d...

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Bibliographic Details
Published inOphthalmic paediatrics and genetics Vol. 7; no. 2; p. 127
Main Authors Magli, A, Greco, A, Alfieri, M C, Pignalosa, B
Format Journal Article
LanguageEnglish
Published Netherlands 1986
Subjects
Abnormalities, Multiple - genetics
Adult
Child, Preschool
Choroid - abnormalities
Coloboma - genetics
Female
Humans
Iris - abnormalities
Male
Optic Disk - abnormalities
Pedigree
Retina - abnormalities
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Summary:The authors describe a family showing coloboma of the optic nerve associated with chorioretinal coloboma and coloboma of the iris. The absence of its occurrence in association with extraocular malformations points to an autosomal dominant mode of transmission, with reduced penetration. The authors describe the probable pathogenetic mechanism of the disorder and discuss the differential diagnosis both for chorioretinal coloboma (inflammatory chorioretinitis, especially by toxoplasma) and for colobomas of the optic disc (papillary pits and morning glory syndrome). The molecular basis of the malformation is however still unknown and thus a prenatal diagnosis is impossible.
ISSN:0167-6784
DOI:10.3109/13816818609076121