NIH scientists identify disorder causing blindness, deafness, albinism and fragile bones

Researchers at the National Eye Institute (NEI), part of the National Institutes of Health, have identified the genetic underpinnings of a rare disorder that causes children to be born with deafness, blindness, albinism and fragile bones. The newly recognized syndrome, COMMAD, affects children who inherit two mutations of a gene – one from each parent – each of whom is deaf due to another rare, genetic disorder called Waardenburg syndrome 2A.

Source: News from NEI - February 28, 2017 Category: Opthalmology Authors: demottke Source Type: news