ArticleDocumenta ophthalmologica. Advances in ophthalmology2021
Evolution of macular hole in enhanced S-cone syndrome.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 10 citations in OpenAlex.
- The clinical features and real world treatment outcomes in von Hippel Lindau related retinal capillary hemangioblastomas.International journal of retina and vitreous · 2025Article
- Article
- Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.Genes · 2024Article
- Cone dystrophy associated with autoimmune polyglandular syndrome type 1.Scientific reports · 2023Article
- Enhanced S-cone Syndrome, a Mini-review.Advances in experimental medicine and biology · 2023Review
- Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.Clinics and practice · 2022Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS).
methodsThis study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR2E3 molecular genetic analysis.
resultsAt presentation, patient had night blindness and visual acuity (VA) of 20/300 in the right eye (OD) and 20/100 in the left eye (OS). Examination showed bilateral retinal midperipheral pigmentary deposits and a macular schisis in OD. Electroretinography and NR2E3 genetic analysis confirmed ESCS. A year later, a lamellar MH (LMH) appeared at the fovea in OD. SD-OCT confirmed it as inner retinal layer LMH with outer retinal preservation and displayed, on the temporal side of the LMH, prominent splitting between the inner and outer retinal layers. At 2 years, a focal defect in the ellipsoid zone appeared on SD-OCT, followed by split in the outer retinal layer creating a progressively expanding outer LMH. The latter had rolled edges which then fused with the inner LMH margins creating a single full-thickness FTMH. Over the next 4 years, enlargement of the FTMH with increased adjacent retinal splitting continued. No visible vitreous abnormalities or vitreoretinal traction forces were identified at any stage during follow-up. VA OD remained unchanged.
conclusionThis case illustrates that the clinical evolution of FTMH in ESCS may be progressive and likely involves degeneration and intraretinal, rather than vitreoretinal, traction. This should be kept in mind when considering surgical intervention in these cases.
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