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Article

A unique cause of blepharoptosis associated with RYR1 mutation.

Digital journal of ophthalmology : DJO - 1 Jan 2025

Samai Imanouel M, Wong Brian R

Abstract excerpt

We present the case of a 56-year-old man with a recessive RYR1 mutation (10318G>A) who presented with bilateral ptosis and ophthalmoplegia. Despite a history of rhabdomyolysis and Graves' disease, he had not previously reported visual complaints. Following bilateral frontalis fixation surgery, his visual acuity improved. RYR1 mutations typically manifest as myopathies and susceptibility to malignant hyperthermia....

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Identifiers

PMID: 42382289
DOI: 10.5693/djo.02.2025.01.003
PMCID: PMC13317497

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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