Ocular manifestations of ectodermal dysplasia.

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.