Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant
Posterior segment findings of RP rather than macular dystrophy were observed in our patient. Inner retinal surface remodeling leading to non-cystic petaloid maculopathy and distinct uniform wavy protrusions extending to the midperipheral/peripheral retinal regions might reveal the involvement of Müller cells in our patient with cadherinopathy. A syndromic association may exist in our patient with a <i>CDHR1</i> frameshift pathogenic variant and major depressive disease.
Authors
- Sezin Canbek (ORCID: https://orcid.org/0000-0001-9516-0047)
- Yusuf K. Durlu
Institutions
- Ümraniye Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- Istanbul Eye Hospital (TR)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1016/j.ajoc.2024.102228
- Citations
- 2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.10