Are mutations in MFSD8 , encoding a lysosomal membrane protein , associated with nonsyndromic autosomal recessive macular dystrophy?
In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. Affected individuals showed no neurologic features typical for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and devastating multisystem lysosomal storage disease previously associated with mutations in MFSD8. We propose a genotype-phenotype model in which a combination of a severe and a mild variant cause nonsyndromic macular dystrophy with central cone involvement, and 2 severe mutations cause vLINCL.
mGluR5 receptors play an important role in modulation of anaesthesia induced by ketamine, but not propofol.