Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report Article Swipe
Sean Ghiam
,
Ryan Zukerman
,
Morgan Brzozowski
,
Michelle Alabek
,
Richard Hagan
,
Avigail Beryozkin
,
José‐Alain Sahel
,
Boris Rosin
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000546220
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000546220
Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenicity reclassification of a variant of uncertain significance MFSD8 c.291G>C (p.Trp97Cys). Case Presentation: A 47-year-old male with progressive vision loss exhibited symptoms indicative of maculopathy. These included decreased central vision, visual distortions, photophobia, poor depth perception, glare, impaired dark/light adaptation, difficulty reading, depressed multifocal ERG responses, and central ellipsoid dropout on SD-OCT. Evaluation included genetic testing, segregation analysis, and a complete ophthalmic examination, including slit-lamp exam, dilated fundus exam, FAF, SD-OCT, ERG, and Humphrey 24-2 visual fields. A 351 gene retinal dystrophy panel revealed two variants in MFSD8, including one pathogenic variant (c.1006G>C, p.Glu336Gln) and one likely pathogenic variant (c.291G>C, p.Trp97Cys), confirmed to be in trans via segregation testing. Conclusion: This case underscores the importance of genetic testing in confirming variant inheritance and describes the clinical phenotype associated with MFSD8 c.291G>C (p.Trp97Cys). The variant contributes to a pathological non-syndromic phenotype when in trans with a pathogenic variant. Given the syndromic variants of MFSD8, patients with this specific variant in the homozygous or compound heterozygous state should be closely monitored for clinical manifestations associated with this condition. Genetic counseling should be recommended for affected individuals and their close relatives to provide informed guidance regarding prognosis, reproductive risks, and available support resources.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1159/000546220
- https://karger.com/cop/article-pdf/doi/10.1159/000546220/4378766/000546220.pdf
- OA Status
- gold
- References
- 31
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4410512507
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4410512507Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1159/000546220Digital Object Identifier
- Title
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Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case ReportWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-05-20Full publication date if available
- Authors
-
Sean Ghiam, Ryan Zukerman, Morgan Brzozowski, Michelle Alabek, Richard Hagan, Avigail Beryozkin, José‐Alain Sahel, Boris RosinList of authors in order
- Landing page
-
https://doi.org/10.1159/000546220Publisher landing page
- PDF URL
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https://karger.com/cop/article-pdf/doi/10.1159/000546220/4378766/000546220.pdfDirect link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
- OA URL
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https://karger.com/cop/article-pdf/doi/10.1159/000546220/4378766/000546220.pdfDirect OA link when available
- Concepts
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Medicine, Phenotype, Clinical phenotype, Ophthalmology, Optometry, Pediatrics, Genetics, Gene, BiologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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31Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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