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Retinitis pigmentosa: a new feature in hypohidrotic ectodermal dysplasia
Author(s) -
Meunier A.,
Vilain C.,
Abramowicz M.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0662
Subject(s) - retinitis pigmentosa , hypohidrotic ectodermal dysplasia , hypodontia , hypotrichosis , medicine , dermatology , consanguineous marriage , x linked recessive inheritance , consanguinity , ectodermal dysplasia , ophthalmology , genetics , pediatrics , biology , orthodontics , x chromosome , retinal , gene
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.