Article ; Online: Multimodal Imaging of a novel MFSD8/CLN7 mutation associated with non-syndromic symmetric adult-onset macular dystrophy.
Retinal cases & brief reports
2024
Abstract: Purpose: To report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric non-syndromic macular dystrophy.: Methods: A 63-year-old female patient presented complaining of a gradual subjective ... ...
Abstract | Purpose: To report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric non-syndromic macular dystrophy. Methods: A 63-year-old female patient presented complaining of a gradual subjective decline in visual acuity in both eyes over the previous months. This patient underwent a comprehensive ophthalmological assessment, including multimodal retinal imaging and electrophysiological testing. Given suspicion for a hereditary retinal disorder, genetic testing was pursued. Results: The eye examination revealed blunted foveal reflexes and no lesions or abnormalities in the equatorial or anterior retinal periphery. Multimodal imaging showed a bilateral and almost symmetrical subfoveal interruption of the outer retinal layers including an optical gap. Genetic testing revealed that the MFSD8/CLN7 gene exhibited a homozygous variant, specifically p.Ala484Val (c.1451C>T). This variant was identified as the likely causative factor for the condition. Conclusion: We herein describe the clinical findings of a previously unreported homozygous variant in the MFSD8/CLN7 gene, resulting in a non-syndromic form of bilateral central macular dystrophy. |
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Language | English |
Publishing date | 2024-02-26 |
Publishing country | United States |
Document type | Journal Article |
ISSN | 1937-1578 |
ISSN (online) | 1937-1578 |
DOI | 10.1097/ICB.0000000000001553 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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