The first reported case of CDH3 -related hypotrichosis with juvenile macular dystrophy from Jordan: a case report.

Khalid Al ZubiNesrin Mwafi Hamzeh Mohammad AlrawashdehFawaz Al SarirehAreej SomkuwarDina M Abdulmannan

Published in: Ophthalmic genetics (2022)

Blindness due to progressive macular degeneration is a common manifestation in numerous syndromic recessive disorders such as HJMD. Ophthalmologists should consider the importance of systemic manifestations and genetic testing for the confirmation of diagnosis.

Keyphrases

optical coherence tomography
diabetic retinopathy
intellectual disability
cataract surgery
age related macular degeneration
multiple sclerosis
early onset
autism spectrum disorder
muscular dystrophy