Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system
Abstract
Background: Cavitary disc anomalies, including optic disc pit (ODP), optic nerve coloboma (ODC), and morning glory disc anomaly (MGDA), are congenital conditions with distinct embryological origins and systemic associations. Hybrid features combining these anomalies are rare, complicating diagnosis and management.
Purpose: To describe the clinical spectrum, multimodal imaging characteristics, and management strategies of hybrid cavitary disc anomalies, and to propose a novel classification system based on anatomical and physiological overlap.
Methods: This retrospective case series included 22 eyes from 17 patients seen at a tertiary care center over 19 months (June 2023-December 2024). All underwent best-corrected visual acuity (BCVA) and fundus examination, multimodal imaging (color fundus photography and [optical coherence tomography] OCT), and neuroimaging when indicated. Findings were confirmed by a senior consultant with over 20 years of experience. Management tailored to visual prognosis and macular status.
Results: The median BCVA was Log MAR 0.30 ± 1.13. Various anomalies include ODP with ODC and retinal choroidal coloboma in 10 eyes (45.5%), ODP with MGDA in 3 eyes (13.6%), ODC with RCC and bridging, coloboma in 3 eyes (13.6%), and ODC with MGDA in 2 eyes (9.1%). ODP with ODC, dual ODP with ODC and RCC, and dual ODP with ODC or RCC in 1 eye were each present in 1 eye (4.5). One patient had bilateral hybrid anomalies with maculopathy. Surgical intervention was…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health. Reported size: 17 participants or records.
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