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Unusual presentation of cone dysfunction consequent upon a homozygous FAM161A variant | Synapse

April 23, 2026

Unusual presentation of cone dysfunction consequent upon a homozygous FAM161A variant

Key Points

To explore the atypical presentation of cone dysfunction related to homozygous FAM161A variants.
Case descriptions detailing patient presentations and genetic analysis.
Clinical evaluations to assess fundoscopic findings.
Patients exhibited cone dysfunction despite normal-appearing fundi.
FAM161A variants were confirmed, linking them to the observed dysfunction.

Abstract

FAM161A retinopathy could present initially as cone dysfunction in patients whose fundi appear to be relatively normal, and it may be considered in the differential diagnosis of cone dysfunction syndrome.

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Cite This Study

Alhamad et al. (Mon,) studied this question.

synapsesocial.com/papers/69e9b6aa85696592c86eafdb https://doi.org/https://doi.org/10.1080/13816810.2026.2653146