Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual.

https://www.cell.com/ajhg/fulltext/S0002-9297(20)30127-0?rss=yes

Source: The American Journal of Human Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Due ñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Mara Cavallin, Jean-Louis Bacquet, Alexa Tags: Article Source Type: research