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Article

Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.

Ophthalmic genetics - 1 Oct 2024

Rao Nitya T, Sumaroka Alexander, Santos Arlene J, Parchinski Kelsey M, Weber Mariejel L, Maguire Albert M, Cideciyan Artur V, Aleman Tomas S

Abstract excerpt

PURPOSE: To gain an insight into the pathophysiology of RAB28-associated inherited retinal degeneration through detailed phenotyping and long-term longitudinal follow-up. METHODS: The patient underwent complete ophthalmic examinations. Visual function was assessed with microperimetry, full-field electroretinography (ffERG), imaging with optical coherence tomography (OCT), short-wave (SW), and near-infrared (NIR)...

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Topics

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Share to Cone-Rod Dystrophies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Retinal Cone Photoreceptor Cells

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Source

Identifiers

PMID: 38956823
DOI: 10.1080/13816810.2024.2362204

Genes

RAB28
RPE

Variants

Provenance

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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