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Multimodal Imaging of a novel MFSD8/CLN7 mutation associated with non-syndromic symmetric adult-onset macular dystrophy.

Francesco GelorminiVeronica VallinoMark P BreazzanoBarbara PasiniMichele ReibaldiEnrico Borrelli
Published in: Retinal cases & brief reports (2024)
We herein describe the clinical findings of a previously unreported homozygous variant in the MFSD8/CLN7 gene, resulting in a non-syndromic form of bilateral central macular dystrophy.
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