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Evolution of macular hole in enhanced S-cone syndrome

  • Clinical Case Report
  • Published:
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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. 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.

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.

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Availability of data and material

This work was conducted at King Khaled Eye Specialist Hospital (KKESH). The case’s data are available at KKESH.

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Funding

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Author information

Authors and Affiliations

  1. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh, 11462, Kingdom of Saudi Arabia

    Moustafa S. Magliyah, Sulaiman M. AlSulaiman, Patrik Schatz & Sawsan R. Nowilaty

  2. Ophthalmology Department, Prince Mohammed Medical City, Aljouf, Kingdom of Saudi Arabia

    Moustafa S. Magliyah

  3. Department of Ophthalmology, Clinical Sciences, Skane University Hospital, Lund University, Lund, Sweden

    Patrik Schatz

Authors
  1. Moustafa S. Magliyah
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  2. Sulaiman M. AlSulaiman
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  3. Patrik Schatz
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  4. Sawsan R. Nowilaty
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Contributions

All authors attest that they meet the current ICMJE criteria for authorship. MM and SN designed and conducted the study. MM, SS, PS, and SN were involved in collection, management, analysis, and interpretation of the data, and contributed to the preparation, review, and final approval of the manuscript. Part of this material was submitted for poster presentation at the World Ophthalmology Congress Meeting in Cape Town on June 26–29, 2020.

Corresponding author

Correspondence to Sawsan R. Nowilaty.

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Conflict of interest

The authors have no conflicts of interest of financial disclosures.

Ethical approval

This retrospective case study involving a human participant was in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments. The Human Investigation Committee (IRB) of King Khaled Eye Specialist Hospital (KKESH) approved this study (Ref. 19122024-R). No animal was involved in this study.

Informed consent

Informed consent was obtained from the individual participant included in the study.

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The patient has consented to the submission of the case report for submission to the journal. This report does not contain any personal information that could lead to the identification of the patient.

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Magliyah, M.S., AlSulaiman, S.M., Schatz, P. et al. Evolution of macular hole in enhanced S-cone syndrome. Doc Ophthalmol 142, 239–245 (2021). https://doi.org/10.1007/s10633-020-09787-8

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  • DOI: https://doi.org/10.1007/s10633-020-09787-8

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