Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy

    July 2016 in “ JAMA Ophthalmology ”
    Sarah Hull, Gavin Arno, Anthony G. Robson, Suzanne Broadgate, Vincent Plagnol, Martin McKibbin, Stephanie Halford, Michel Michaelides, Graham E. Holder, Anthony T. Moore, Kamron N. Khan, Andrew R. Webster
    TLDR CDH3-related disease causes worsening eye and hair issues.
    The study investigated 10 patients with congenital hypotrichosis with juvenile macular dystrophy (HJMD) due to biallelic mutations in CDH3. Patients, aged 3 to 57 years, exhibited central visual disturbance and sparse scalp hair. Retinal imaging showed chorioretinal atrophy and outer retinal tubulations. Visual acuity deteriorated over time in 5 patients, while retinal thickness decreased. Electrophysiologic evaluations indicated macular dysfunction, with some showing generalized retinal dysfunction. Biallelic mutations, including 6 novel ones, were identified in all patients. The study concluded that CDH3-related disease is marked by progressive chorioretinal atrophy and sparse scalp hair, distinguishing it from other juvenile macular dystrophies.
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