Serous maculopathy in congenital cavitary optic disc anomaly: A case series.

Jenna Krivit, Gregor S Reiter, Run Zhou Ye, Kahlen Darr, Lisa A Schimmenti, Raymond Iezzi

Abstract readCase Reports

In one paragraph

Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

6 authors.

Jenna KrivitDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

Gregor S ReiterDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

Run Zhou YeDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

Kahlen DarrDepartment of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.

Lisa A SchimmentiDepartment of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.

Raymond IezziDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: This study aims to describe an adult child and parent with cavitary optic disc anomalies (CODA) with associated serous maculopathy and a non-coding triplication upstream of Design: Retrospective, single-institution, observational case series. Subjects: 4 eyes of 2 related patients. Methods: This retrospective chart review used electronic medical records to summarize patient medical history, ophthalmology consultations, whole genome analysis, and imaging. Main outcome measures: Descriptive analysis of multimodal imaging and genomic sequencing. Results: Patient 1, a 23-year-old male, was referred for visual changes in the setting of paraganglioma. He had evidence of optic disc asymmetry and serous sensory retinal detachment. Whole genome analysis was positive for a triplication upstream of the Conclusions: We describe inherited CODA with evidence of current or resolved serous maculopathy.

Indexed as

Cavitary optic disc anomalyCongenital optic nerve anomalyGenetic sequencingSerous maculopathy

Identifiers

PMID41293230

DOI10.1016/j.ajoc.2025.102460

PMCPMC12641564

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.