Genetic features of retinitis pigmentosa in Turkey

Sixty-two cases with retinitis pigmentosa from 42 index families were investigated to reveal the genetic features of the disease in Turkey. There were 42 propositi of whom 5 had a systemic syndrome associated with retinitis pigmentosa. Of the remaining 37 cases the condition was autosomal recessive...

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Bibliographic Details
Published inDocumenta ophthalmologica Vol. 89; no. 4; p. 387
Main Authors Atmaca, L S, Sayli, B S, Akarsu, N, Gündüz, K
Format Journal Article
LanguageEnglish
Published Netherlands 01.01.1995
Subjects
Adolescent
Adult
Aged
Child
Female
Genetic Linkage - genetics
Genotype
Humans
Male
Middle Aged
Pedigree
Prevalence
Retinitis Pigmentosa - epidemiology
Retinitis Pigmentosa - genetics
Turkey - epidemiology
X Chromosome - genetics
Turkey
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Summary:Sixty-two cases with retinitis pigmentosa from 42 index families were investigated to reveal the genetic features of the disease in Turkey. There were 42 propositi of whom 5 had a systemic syndrome associated with retinitis pigmentosa. Of the remaining 37 cases the condition was autosomal recessive in 21 (56.8%), sporadic in 12 (32.4%), autosomal dominant in 3 (8.1%) and X-linked recessive in one (2.7%). Sporadic cases may be more frequent as many hereditary cases are not brought to medical attention in rural families. Male preponderance among sporadic cases may indicate that there may be more X-linked cases. Nine out of 21 cases initially classified as sporadic displayed parental consanguinity and they were included as having autosomal recessive trait. Large families with autosomal recessive inheritance may prove valuable in linkage analysis and in defining future gene abnormalities.
ISSN:0012-4486
DOI:10.1007/BF01203714