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Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy

Narayan, A; Moosajee, M; (2019) Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy. BMJ Case Reports , 12 (10) , Article e232342. 10.1136/bcr-2019-232342. Green open access

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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 growth on her scalp, her parents were reassured this would grow, but it never manifested. She was found to be hypermetropic and prescribed glasses from age 2 but no retinal findings were noted. At age 23 years, the patient undertook an internet search and discovered the association of symptoms pointing towards HJMD. She sought genetic testing, revealing a homozygous missense mutation in Cadherin-3 (CDH3) gene. The patient presented to our Genetic Eye Disease Service at Moorfields Eye Hospital age 27 years, with reduced colour, central distance and near vision. Fundus examination and imaging confirmed atrophic macular changes. Currently, HJMD has no treatment, she wears a wig, UV-protected sunglasses in sunlight and maintains a healthy balanced diet.

Type: Article
Title: Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bcr-2019-232342
Publisher version: https://doi.org/10.1136/bcr-2019-232342
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Dermatology, ophthalmology
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10086766
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