A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity

Three cases in three successive generations of one family with autosomal dominant congenital stationary night blindness are presented. Case 1, the proband, and Case 3, his grandfather had the same electroretinographic responses: nonrecordable scotopic electroretinogram (ERG), normal but slightly dim...

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Bibliographic Details
Published inOphthalmic paediatrics and genetics Vol. 13; no. 4; p. 211
Main Authors Hayakawa, M, Imai, Y, Wakita, M, Kato, K, Yanashima, K, Miyake, Y, Kanai, A
Format Journal Article
LanguageEnglish
Published Netherlands 1992
Subjects
Adult
Aged
Dark Adaptation
Electroretinography
Genes, Dominant
Humans
Infant
Male
Night Blindness - congenital
Night Blindness - genetics
Night Blindness - physiopathology
Pedigree
Photic Stimulation
Visual Fields
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Summary:Three cases in three successive generations of one family with autosomal dominant congenital stationary night blindness are presented. Case 1, the proband, and Case 3, his grandfather had the same electroretinographic responses: nonrecordable scotopic electroretinogram (ERG), normal but slightly diminished flicker ERG, and negative-shaped single bright-flash ERG. Their dark adaptation curves were monophasic with no rod segment. However, Case 2, the proband's father, showed different ERG findings; a moderately diminished scotopic ERG, a normal flicker ERG, and a biphasic dark adaptation curve with an elevated final rod threshold. The authors believe that these differences reflect variations in the expressivity of a single gene mutation with the lowest expressivity being seen in Case 2.
ISSN:0167-6784
DOI:10.3109/13816819209105169