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.

For information about carrier frequency and residual risk, please see the residual risk table.