IMPACT OF THE 'X' FACTOR ON RETINITS PIGMENTOSA- A RARE AND CLASSICAL PRESENTATION

Retinitis pigementosa are group of disorders which are clinical and genetically heterogenous, with defective rods due to the mutations in the gene coding rhodopsin along with other genes which describe the various subtypes of RP(1) . It can be present as syndromic or non-syndromic type, the latter being more common. The non syndromic type is found to be in 1:4000 individuals. Among the various hereditary patterns of RP, the X-linked type, is the one with an aggressive and fast progressing course. With a very bad prognosis, the need for social and psychological support that the patient might require in the future(2). We report a rare and a classical case of retinitis pigmentosa affecting the mother and son with no clinical evidence in the father and daughter, which is most likely to be an X-linked hereditary disease.