Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

Ghazawy, S.; Springell, K.; Gauba, V.; McKibbin, M. A.; Ingleheam, C. F.
October 2007
British Journal of Ophthalmology;Oct2007, Vol. 91 Issue 10, p1411
Academic Journal
Case Study
This article presents the case study of a family with visual disorder. It is stated that the visual acuity of each family member were determined at the Early Treatment Diabetic Retinopathy Study (ETDRS). Here, a new mutation in the processing factor 31 (PRPF31) gene is described concerning the clinical phenotype of the dominant retinitis pigmentosa acquired by the parent and children of the said family.


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