Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases.
Authors
- Marina Girón-Ortega (ORCID: https://orcid.org/0000-0001-9555-867X)
- Manuel Ramos-Jiménez (ORCID: https://orcid.org/0009-0006-4274-2047)
- Marcela Mena (ORCID: https://orcid.org/0000-0002-8734-9031)
- Marina Soto-Sierra (ORCID: https://orcid.org/0000-0003-1958-5072)
- Mireia López-Domínguez
- Enrique Rodríguez-de-la-Rúa-Franch (ORCID: https://orcid.org/0000-0001-7630-4252)
- Guillermo Antiñolo (ORCID: https://orcid.org/0000-0002-2113-074X)
- Miguel Sanchez
Institutions
- Hospital Universitario Virgen Macarena (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Instituto de Biomedicina de Sevilla (ES)
- Universidad de Sevilla (ES)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1080/13816810.2024.2390021
- Primary Topic
- Magnesium in Health and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Instituto de Salud Carlos III