Retinitis Pigmentosa 28 (FAM161A)

Retinitis pigmentosa 28 is an autosomal recessive disorder caused by pathogenic variants in the gene FAM161A. While it has been reported in populations worldwide, it is more prevalent in Ashkenazi and Sephardic Jewish individuals. Retinitis pigmentosa begins with the onset of night blindness in either childhood, adolescence or young adulthood, 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
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Retinitis Pigmentosa 28FAM161A3, 4 [6] (*4)ARAshkenazi Jewish1 in 214>95%0.000234686693264492
Retinitis Pigmentosa 28FAM161A3, 4 [6] (*4)ARWorldwide1 in 28988%0.00041649312786339
Retinitis Pigmentosa 28FAM161A3, 4 [6] (*4)ARSephardic Jewish – Libyan, Moroccan, Tunisian, and Bulgarian 1 in 4186%0.00348432055749129