Genetic studies on retinitis pigmentosa

ABSTRACT

Our study included 50 cases with retinitis pigmentosa [RP] as an isolated anomaly. Patients with syndromes associated with RP were excluded. Twenty seven cases were familial and 23 cases were sporadic. Pedigree patterns were examined in familial cases. Consanguinity was search for in both familial and sporadic cases. Electo-retinogram [ERG] showed extinguished curves in two familial cases without fundus changes. Amino acids were estimated in blood and urine for 5 cases with different patterns of inheritance. Reduced threonine and histidine levels in blood was noticed in autosomal dominant and recessive cases and normal levels in the X-linked cases