Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a Bulgarian Roma family

Abstract

AbstractPurpose To make a clinical assessment and molecular genetic analysis in patients with autosomal dominant form of retinitis pigmentosa (adRP) in a Bulgarian Roma family.Methods Clinical assessment and genealogical analysis in a Bulgarian Roma family suggested the presence of RP with autosomal dominant inheritance with at least 12 affected in 4 generations. Best corrected visual acuity; kinetic Goldmann perimetry; direct and indirect ophthalmoscopy; ERG; fluorescein angiography. The molecular genetic analysis involved screening of 15 known adRP genes using microarray panel of Asper Biotech in the index patient.Results T in exon 4 of the RP1 gene, leading to an amino acid substitution T373I was found in heterozygous condition.adRP is a severe and genetically heterogeneous retinal degeneration. We present a Bulgarian Roma family with typical clinical symptoms of RP and heterozygous change in the RP1 gene, which has previously been described as a possible disease causing mutation in a Pakistani family with adRP and in homozygous condition leading to a severe arRP in 2 consanguineous families of Pakistani origin.Conclusion The clinical and genetic analysis of additional affected and unaffected family members is ongoing. This will allow better genotype‐phenotype correlations to be made.