Article
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.
Ophthalmic genetics - 1 Dec 2023
Beckman Madeline, Clevenger Leanne, DeBenedictis Meghan J, Yuan Alex, Sharma Sumit
Abstract excerpt
BACKGROUND: The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 variants causing autosomal recessive macular dystrophy with central cone involvement without neurologic sequelae. We report a patient with a novel ocular phenotype...
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