Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant
Purpose: To report the posterior segment findings in a case with a biallelic CDHR1 frameshift pathogenic variant at chromosome 10 c.616del exon7 p.(His206Thrfs∗61). Observations: A 25-year-old man was diagnosed with retinitis pigmentosa (RP). Fundus examination disclosed bone spicule pigmentation, a...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S245199362400238X |
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