Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4025882 | Ophthalmology | 2015 | 10 Pages |
Abstract
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.
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Authors
Susanne PhD, L. Ingeborgh MD, PhD, Riccardo MSc, Sandro MD, PhD, Robert K. MD, PhD, Marijke N. BSc, Caroline C.W. MD, PhD, Janneke J.C. MD, PhD, Frans P.M. PhD, Anneke I. PhD, Carel B. MD, PhD,