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.

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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
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article

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant

Sezin Canbek, Yusuf K. Durlu
2 citations
American Journal of Ophthalmology Case Reports
Genetic Syndromes and Imprinting
1.10
article

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant

Sezin Canbek, Yusuf K. Durlu
article en
2 citations

Abstract

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.

American Journal of Ophthalmology Case ReportsVol. 36
Ümraniye Eğitim ve Araştırma Hastanesi (TR), Sağlık Bilimleri Üniversitesi (TR), Istanbul Eye Hospital (TR)
Openalex Percentile: Top 18%
Genetic Syndromes and Imprinting
1.10
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