Retinitis pigmentosa clinical and genetic study

ABSTRACT

15 probands [9 males and 6 females] with retinitis pigmentosa were studied and 20 normal subjects were taken as a control group. 5 probands were typical and 10 were atypical retinitis pigmentosa. Also, 10 cases were familial, consanguinous marriage was noticed in 10 cases and 2 cases were exposed to prenatal environmental factors. Collected data from pedigrees analysis revealed that retinitis pegimentosa can follow autosomal dominant and autosomal recessive mode of inheritance. Karyotyping revealed that no chromosomal aberrations were detected in cases of retinitis pigmentosa