A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Elsevier 2019-09-01
Series:American Journal of Ophthalmology Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993619300660

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http://www.sciencedirect.com/science/article/pii/S2451993619300660

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