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Article

Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.

Ophthalmic genetics - 1 Jun 2022

Chiou Yi-Ran, Cheng Hui-Chen, Wang An-Guor

Abstract excerpt

BACKGROUND: Autosomal-dominant cone-rod dystrophy 7 (CORD7) has been documented in association with RIM1 mutation (c.2459 G>A). We report a patient with retinal dystrophy who was heterozygous for RIM1 missense variant with a newly found point mutation (c.4036 G>T). Clinical findings of this genetic variant manifested differently from a typical CORD7. In addition, astrocytic hamartomas at bilateral optic discs are...

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Identifiers

PMID: 35014575
DOI: 10.1080/13816810.2022.2025604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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