Retinitis Pigmentosa 59 (DHDDS)
Retinitis pigmentosa 59 is an autosomal recessive disorder caused by pathogenic variants in the gene DHDDS. It has been almost exclusively reported in families of Ashkenazi Jewish descent. Retinitis pigmentosa begins with the onset of night blindness in adolescence and progresses to tunnel vision and blindness. Age of onset and severity of vision loss may vary between patients. Life expectancy is not reduced. No genotype-phenotype correlation has been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Retinitis Pigmentosa 59||DHDDS||3  (p.K42E)||AR||Ashkenazi Jewish||1 in 117||>95%||0.000430848772081|