Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report
Integrating personalized nutritional strategies into the management of ciliopathies can enhance patient out-comes by addressing both ocular and systemic manifestations. These findings underscore the need for policy development around nutritional education and support for patients with inherited ciliopathies.
Authors
- Eric K. Chin (ORCID: https://orcid.org/0000-0003-2274-8194)
- David R.P. Almeida (ORCID: https://orcid.org/0000-0002-1742-1683)
- Jakob M Pericak (ORCID: https://orcid.org/0009-0002-7748-945X)
Institutions
- Loma Linda University Medical Center (US)
- Loma Linda University (US)
- California Retina Consultants (US)
- Loma Linda Veterans Association for Research and Education (US)
- Erie VA Medical Center (US)
- VA Loma Linda Healthcare System (US)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-02-03
- DOI
- https://doi.org/10.1159/000543419
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Regeneron Pharmaceuticals
- Alimera Sciences
- Apellis Pharmaceuticals
- Genentech
- Allergan