Ocular manifestations of ectodermal dysplasia

Orphanet Journal of Rare Diseases

Alanna Strong¹  James A. Katowitz²  William R. Katowitz²  Daphna Landau Prat³ 

[1] Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA;Division of Ophthalmology, The Children’s Hospital of Philadelphia, 34Th and Civic Center Boulevard, 19104, Philadelphia, PA, USA;Division of Ophthalmology, The Children’s Hospital of Philadelphia, 34Th and Civic Center Boulevard, 19104, Philadelphia, PA, USA;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;

关键词: Ectodermal dysplasia;    Ptosis;    Lash ptosis;    EDA1;    TP63;    Ectrodactyly-ectodermal dysplasia-clefting;    EEC;    Ankyloblepharon-ectodermal defects-cleft lip/palate;    AEC;   

DOI  :  10.1186/s13023-021-01824-2

来源: Springer

【 摘 要 】

PurposeThe ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.MethodsRetrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children’s Hospital of Philadelphia over a 12-year period (2009–2020). Main Outcome Measures were ocular and ocular adnexal abnormalities.ResultsThirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3–18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants.ConclusionEctodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

【 授权许可】

CC BY