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||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Retinitis Pigmentosa 28||FAM161A||3, 4  (*4)||AR||Ashkenazi Jewish||1 in 214||>95%||0.000234686693264492|
|Retinitis Pigmentosa 28||FAM161A||3, 4  (*4)||AR||Worldwide||1 in 289||88%||0.00041649312786339|
|Retinitis Pigmentosa 28||FAM161A||3, 4  (*4)||AR||Sephardic Jewish – Libyan, Moroccan, Tunisian, and Bulgarian||1 in 41||86%||0.00348432055749129|