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Article

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.

Arquivos brasileiros de oftalmologia - 1 Jan 2023

Meşen Selma, Batur Muhammed, Ozer Muhammet Derda

Abstract excerpt

This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical...

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Identifiers

PMID: 39298726
DOI: 10.5935/0004-2749.2022-0069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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