Maculopathy and adult‐onset ataxia in patients with biallelic <scp><i>MFSD8</i></scp> variants
Our observations expand the knowledge on biallelic pathogenic MFSD8 variants and confirm that these are associated with a spectrum of more heterogeneous clinical phenotypes. In MFSD8-related disease, adult-onset recessive ataxia can be the presenting manifestation or may occur in combination with retinal dystrophy.
Authors
- Jayesh Sheth (ORCID: https://orcid.org/0000-0001-5936-5192)
- Sara Mole (ORCID: https://orcid.org/0000-0003-4385-4957)
- Ulrika Kjellström (ORCID: https://orcid.org/0000-0002-7316-4976)
- Emily Gardner (ORCID: https://orcid.org/0000-0002-1265-2298)
- Andreas Puschmann (ORCID: https://orcid.org/0000-0002-3201-8198)
- Glenn Anderson (ORCID: https://orcid.org/0000-0001-6643-6585)
- Sigurd Dobloug
Institutions
- Lund University (SE)
- Great Ormond Street Hospital (GB)
- Science for Life Laboratory (SE)
- Institute of Genetics and Hospital for Genetic Diseases (IN)
- Helsingborgs lasarett (SE)
- Skåne University Hospital (SE)
- University College London (GB)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-08-01
- DOI
- https://doi.org/10.1002/mgg3.2505
- Citations
- 6
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.40
Funders
- BioMarin Pharmaceutical
- Ögonfonden
- Stiftelsen för Synskadade i f.d. Malmöhus län
- Stiftelsen Kronprinsessan Margaretas Arbetsnämnd för Synskadade
- Region Skåne
- Skånes universitetssjukhus
- Hans-Gabriel och Alice Trolle-Wachtmeisters stiftelse för medicinsk forskning