Evolution of macular hole in enhanced S-cone syndrome
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CLINICAL CASE REPORT
Evolution of macular hole in enhanced S-cone syndrome Moustafa S. Magliyah . Sulaiman M. AlSulaiman . Patrik Schatz . Sawsan R. Nowilaty
Received: 3 March 2020 / Accepted: 7 August 2020 Ó Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). Methods This 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. Results At 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. M. S. Magliyah S. M. AlSulaiman P. Schatz S. R. Nowilaty (&) Vitreoretinal Division, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh 11462, Kingdom of Saudi Arabia e-mail: [email protected] M. S. Magliyah Ophthalmology Department, Prince Mohammed Medical City, Aljouf, Kingdom of Saudi Arabia P. Schatz Department of Ophthalmology, Clinical Sciences, Skane University Hospital, Lund University, Lund, Sweden
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 SDOCT, 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. Conclusion This 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. Keywords Enhanced S-cone NR2E3 Macular schisis Macular hole
Introduction Enhanced S-cone syndrome (ESCS) is an autosomal recessive retinal degeneration with several
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characteristic features including night blindness, nummular hyperpigmented lesions around the vascular arcades, macular schisis with or without subretinal fibrosis [1–3], and a pathognomonic standard full-field electroretinogram (ERG) showing a nonrecordable rod response, simplified and delayed response to standard flash with a similar
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