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Article

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

Journal of pediatric ophthalmology and strabismus - 1 Jan 2000

Miranda Vítor, Cortez Liliana, Rosmaninho-Salgado Joana, Ramos Fabiana, Paiva Catarina

Abstract excerpt

PURPOSE: To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS: Retrospective review of medical records. RESULTS: Both siblings were diagnosed as having sensori-neural hearing loss and retinal dystrophy with exuberant intraretinal cystoid spaces and cone-rod dysfunction. The older sibling also had amelogenesis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37092661
DOI: 10.3928/01913913-20230220-01

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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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