A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously de...
Main Authors: | Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-09-01
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Series: | American Journal of Ophthalmology Case Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993619300660 |
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