Genetic study of primary congenital glaucoma in Sharkia

This study included 20 normal subjects as a control group and 20 cases suffering from primary congenital glaucoma. There were 4 familial cases, 4 cases with other ocular and systemic anomalies, 6 cases exposed to prenatal environmental factors and consanguinity was detected in 9 cases. Karyotyping revealed chromosomal anomalies in 3 cases of primary congenital glaucoma, this was in the form of chromatoid breaks in 2 cases and trisomy 13 in one case. All the 3 cases were exposed to prenatal environmental factors and have other ocular and systemic anomalies. Pedigrees analysis revealed that primary congenital glaucoma was inherited as multifactorial mode of inheritance

Retinitis pigmentosa clinical and genetic study

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

Genetic study of congenital cataract

This study done on 20 patients with congenital cataract and 20 normal subjects as control group There was male predominance. Consanguinity was present in 12 cases [60%], positive family history in 5 cases [25%] and 15 cases [75%] were sporadic, prenatal environmental factors in 5 cases [25%] and 7 cases [35%] with other ocular and systemic anomalies. Pedigrees analysis revealed that autosomal dominant and recessive was the usual mode of inheritance and not the x-linked one. Karyotyping revealed chromosomal anomalies were present in 6 cases[30%] in the form of trisomy 21 in 5 cases and pseudo dicenteric chromosome in one case. These cases were exposed to prenatal environmental factors and/or have other ocular and systemic anomalies