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Article

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

Ophthalmic genetics - 1 Sept 2016

Matsui Rodrigo, McGuigan Iii David B, Gruzensky Michaela L, Aleman Tomas S, Schwartz Sharon B, Sumaroka Alexander, Koenekoop Robert K, Cideciyan Artur V, Jacobson Samuel G

Abstract excerpt

BACKGROUND: SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail. MATERIALS AND METHODS: A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perimetry, optical coherence tomography (OCT), and fundus autofluorescence (AF) imaging....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26854980
DOI: 10.3109/13816810.2015.1130154
PMCID: PMC4988809

Genes

SPATA7
ERG

Provenance

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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