Gyrate atrophy of the choroid and retina: a tertiary center experience
GACR is easily recognizable, but there is still no consensus on treatment modalities. The patients primarily present with progressive ophthalmological findings. An arginine-restricted diet is combined with supplementation with pyridoxine, lysine, proline, or creatine to improve metabolic control. Ophthalmological treatments are mainly applied to reduce cystoid macular edema. Early diagnosis and early initiation of therapy should be aimed at patients, and a multidisciplinary approach should be demonstrated both in diagnosis and follow-up.
Authors
- Aslı İnci (ORCID: https://orcid.org/0000-0001-5446-4140)
- İlyas Okur (ORCID: https://orcid.org/0000-0002-8772-0689)
- FS Ezgü
- Ekin Özsaydı Aktaşoğlu (ORCID: https://orcid.org/0000-0002-3735-7439)
- L Tümer
- Hüseyin Baran Özdemir (ORCID: https://orcid.org/0000-0002-5585-253X)
Institutions
- Ministry of Health (TR)
- University of Health Science (KH)
- Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
- Gazi University (TR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2026-02-16
- DOI
- https://doi.org/10.1186/s13023-026-04265-x
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00