Enhanced S-cone syndrome in a family: first long-term (12-year) follow-up and literature review.

Graefes Arch Clin Exp OphthalmolJun 18, 2026 (epub)
Case ReportOphthalmologyOpen access

Silvia Pignatto, Asia Amelia Martin, Ana Ursula Gavric et al.

✦ AI-curated · Sources linked

Case in brief

This report details the long-term clinical course of Enhanced S-cone Syndrome (ESCS) in three siblings with a shared NR2E3 variant. The eldest sibling presented with acute esotropia due to choroidal neovascularization (CNV), while the younger siblings developed macular cystic changes. Despite these complications, all siblings maintained stable visual acuity over a 12-year follow-up period.

Diagnostic / clinical pearl

Clinicians should note that visual acuity in patients with Enhanced S-cone Syndrome can remain stable despite the presence of macular cystic changes.

Why it matters

Understanding the long-term outcomes and variability in Enhanced S-cone Syndrome can inform management strategies and expectations for affected patients.

Source

PubMed · PMID 42313163Free full text on PubMed Central

Published in Graefes Arch Clin Exp Ophthalmol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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