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Ocular manifestations of ectodermal dysplasia
Daphna Landau Prat1,2, William R Katowitz3, Alanna Strong4
1Division of Ophthalmology, The Children's Hospital of Philadelphia, 34Th and Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Insights
Pediatric ectodermal dysplasias (EDs) commonly cause ocular issues like blocked tear ducts and vision problems. New findings suggest eyelid and eyelash ptosis may link to specific ED genes.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Ectodermal dysplasias (EDs) are a group of genetic disorders affecting ectodermal derivatives such as skin, hair, teeth, and sweat glands.
- Ocular manifestations are recognized complications of EDs, impacting vision and eye health in affected children.
Purpose of the Study:
- To investigate and document the spectrum of ocular and ocular adnexal abnormalities in pediatric patients diagnosed with ectodermal dysplasias.
Main Methods:
- A retrospective case series was conducted over a 12-year period (2009-2020).
- Data were collected from consecutive pediatric patients with ED treated at a specialized ophthalmology department.
Main Results:
- Thirty pediatric subjects with ED were analyzed, with hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting being most common.
- Key findings included lacrimal drainage obstruction (40%), refractive errors (43%), amblyopia (20%), and a novel observation of eyelid or eyelash ptosis (37%).
- Ptosis was frequently associated with variants in the TP63 or EDA1 genes.
Conclusions:
- Ectodermal dysplasias are linked to significant ocular pathologies and amblyopia risk in children.
- A potential genetic correlation was identified between eyelash ptosis and the EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes.
Purpose:
The 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.
Methods:
Retrospective 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.
Results:
Thirty 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.
Conclusion:
Ectodermal 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.
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