Retinitis pigmentosa: a new feature in hypohidrotic ectodermal dysplasia

Purpose Hypohidrotic ectodermal dysplasia is usually transmitted as an X‐linked recessive trait. This is a really rare condition with a prevalence of 1 for 100 000 births. Patients present a classical triad of hypotrichosis, anhydrosis or hypohydrosis and dental abnormalities. We report a 16 year ol...

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Bibliographic Details
Published in:Acta ophthalmologica (Oxford, England) England), 2015-10, Vol.93 (S255), p.n/a
Main Authors: Meunier, A., Vilain, C., Abramowicz, M.
Format: Article
Language:English
Subjects:
Ophthalmology
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Summary:Purpose Hypohidrotic ectodermal dysplasia is usually transmitted as an X‐linked recessive trait. This is a really rare condition with a prevalence of 1 for 100 000 births. Patients present a classical triad of hypotrichosis, anhydrosis or hypohydrosis and dental abnormalities. We report a 16 year old boy presenting a mild phenotype of HED and a hemeralopia due to a retinitis pigmentosa, without dysmorphia, intellectual deficiency or other associated feature. The parents were not consanguineous and the family history was unremarkable. Methods A full field ERG according the ISCEV protocol, a goldmann visual field, color and autofluorescent fundu's photographies were recorded. Results The scotopic responses were diminished bilaterally confirming the existence of a retinitis pigmentosa Conclusions We report a patient with the association of HED and retinitis pigmentosa, a previously unreported association that might represent a novel genetic syndrome.
ISSN:1755-375X
1755-3768
DOI:10.1111/j.1755-3768.2015.0662