Retinitis Pigmentosa 25 (EYS)

Retinitis pigmentosa 25 is an autosomal recessive disorder caused by pathogenic variants in the gene EYS. While it has been reported in populations worldwide, it is more prevalent Spain and Sephardic Jewish populations from Morocco. Retinitis pigmentosa begins with the onset of night blindness in childhood, and progresses to tunnel vision and blindness in adulthood. 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
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Retinitis Pigmentosa 25EYS4, 8, 11, 12, 14, 16, 22, 23, 25, 26, 28, 29, 31-33, 39-41, 43 [43] (*7)ARCaucasian1 in 5315%0.0161290322580645
Retinitis Pigmentosa 25EYS4, 8, 11, 12, 14, 16, 22, 23, 25, 26, 28, 29, 31-33, 39-41, 43 [43] (*7)ARWorldwide1 in 12920%0.0062111801242236
Retinitis Pigmentosa 25EYS4, 8, 11, 12, 14, 16, 22, 23, 25, 26, 28, 29, 31-33, 39-41, 43 [43] (*7)ARSephardic Jewish – Moroccan1 in 4222%0.0185185185185185
Retinitis Pigmentosa 25EYS4, 8, 11, 12, 14, 16, 22, 23, 25, 26, 28, 29, 31-33, 39-41, 43 [43] (*7)ARAshkenazi Jewish< 1 in 500>95%0.000100190361687206