Identification of novel pathogenic variants in the <i>PHYH</i> gene and extending the phenotypic range in Refsum disease
We document for the first time an association between macular dystrophy and Refsum disease. Early diagnosis is important so that diet can be modified to improve prognosis for the complications associated with Refsum disease, although improvements in vision, slowing the retinal degeneration and overcoming refractory miosis, are less achievable.
Authors
- Michael Kirby (ORCID: https://orcid.org/0000-0002-5429-7714)
- Cheryl Y. Gregory‐Evans (ORCID: https://orcid.org/0000-0001-8613-0460)
- Kevin Gregory-Evans (ORCID: https://orcid.org/0000-0002-0104-7893)
- André Mattman (ORCID: https://orcid.org/0000-0001-8629-2419)
- Anna Lehman
Institutions
- University of British Columbia (CA)
- BC Children's Hospital (CA)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1080/13816810.2025.2591819
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00