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Article

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.

Molecular genetics & genomic medicine - 1 Aug 2024

Dobloug Sigurd, Kjellström Ulrika, Anderson Glenn, Gardner Emily, Mole Sara E, Sheth Jayesh, Puschmann Andreas

Abstract excerpt

BACKGROUND: Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late-infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to isolated adult-onset retinal dystrophy. Classic late-infantile CLN7 disease is a severe, rare neurological disorder with an age of onset typically between 2 and...

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Identifiers

PMID: 39108195
DOI: 10.1002/mgg3.2505
PMCID: PMC11303817

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