A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2019.100486
Abstract: 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… read more here.
Keywords: loss; case; juvenile macular; macular dystrophy ... See more keywords
Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002190
Abstract: To the Editor: Hypotrichosis with juvenile macular dystrophy (HJMD, OMIM: 601553) is a rare autosomal recessive disorder characterized by short and sparse hair, progressive macular degeneration, decreased visual acuity, and even blindness in early life.… read more here.
Keywords: juvenile macular; hypotrichosis juvenile; macular dystrophy; compound heterozygous ... See more keywords
Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-232342
Abstract: Here, we report the diagnostic challenge of a female patient of Russian descent with autosomal recessive hypotrichosis with juvenile macular dystrophy (HJMD). She presented to dermatology age one and a half years with sparse hair… read more here.
Keywords: macular dystrophy; juvenile macular; hypotrichosis juvenile;