Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

Abstract

Mutation analysis of retinal candidate genes is performed as part of an ongoing research to identify the causative genetic defect in South African families with retinal degenerative disorders (RDDs). A translational research protocol has been established whereby probands are counseled and given their molecular genetic results to take back to other family members, who can then request individual diagnostic testing. A Thr17Met mutation of the rhodopsin gene was identified in a Caucasian South African family with autosomal dominant retinitis pigmentosa. Patients with this mutation appear to benefit from treatment using oral vitamin A supplementation. This family has been informed that a molecular diagnosis is available; however, one individual has refused testing and none of the younger generation has shown interest in receiving molecular results or genetic counseling. Adapting the established protocol for the translation of RDD research results and contacting mutation positive individuals may be justifiable in light of the potential benefit of therapy.

Keywords: Ethics; Retinitis pigmentosa; Rhodopsin; Translational research; Vitamin A.

Fig. 1

Pedigree of the South African family with adRP caused by a Thr17Met mutation of rhodopsin. In the pedigree shown, standard symbols are used—squares represent males and circles represent females. Shaded symbols indicate affected individuals, and a symbol with a line through it indicates that the individual is deceased. Individual 63.2 (III: 5) was the proband, and individuals 63.1–63.5 are individuals from whom blood was taken for research purposes