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.