Retinitis pigmentosa in Southern Africa

Domaine:

healthcare

Type de record:

dataset

Créateur:

J. L. R. P B

Éditeur:

Hôte:

Greenberg J, Bartmann L, Ramesar R, Beighton P. Retinitis pigmentosa in Southern Africa. Clin Genet 1993: 44: 232–235. © Munksgaard, 1993 Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders which are a common cause of genetic blindness. The relative frequencies of the different forms of RP in South Africa, as determined from the register at the DNA banking centre for RP at the Department of Human Genetics, University of Cape Town, are presented and discussed. Of the 125 families analysed, 29 (23%) showed autosomal dominant, 33 (27%) autosomal recessive and 3 (3%) X‐linked inheritance. In 10 families the pedigree data were insufficient to allow accurate genetic subtyping and a further 50 patients were sporadic without a family history of RP or other syndromic features which would allow categorization.

Non‐syndromic retinitis pigmentosa: Phenotype‐genotype correlation in twelve Tunisian families

Abstract Purpose To evaluate the clinical phenotype of twelve families with non syndromic retinit

A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family

Purpose The aim of our study was to assess the clinical phenotype and to determine the causative ge

Retinitis pigmentosa in Southern Africa

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Non‐syndromic retinitis pigmentosa: Phenotype‐genotype correlation in twelve Tunisian families

A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family