Ocular manifestations of ectodermal dysplasia

Abstract

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.

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

Fig. 1

A male patient with Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. He had constant epiphora due to right sided punctal agenesis that resolved with CJDCR at the age of 18 years. Systemic disorders included cleft lip and palate, syndactyly, dental abnormalities, midface hypoplasia, and hearing disorders. a The patient at infancy, showing ectrodactyly. b Same patient, at age 18 years, showing absent lower punctum on the right side (punctal agenesis), and a Lester-Jones tube

Fig. 2

A 13-year-old male patient with Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. The subject was extremely photophobic due to distichiasis and trichiasis (a) causing recurrent corneal erosions and subsequent right eye corneal scarring (b)

Fig. 3

A 10-year-old male with Marshall syndrome, with high myopia (− 20D), shallow orbits and hypertelorism. The patient developed bilateral posterior subcapsular cataracts, had PPV lensectomies with prophylactic peripheral retinal laser ablation at the age of 4 years, and was left aphakic. Final visual acuity at age 10 was 20/60 OD, 20/80 OS

Fig. 4

A male subject with hypohidrotic Ectodermal Dysplasia (HED) and EDA1 gene variant, demonstrating bilateral acquired ptosis and lash ptosis. Note the typical ED presentation with light and sparse eyelashes and eyebrow hair (hypotrichosis), and progressive periocular skin changes. a The patient at age 5 months, with normal eyelid position. b Age 10, demonstrating mild bilateral ptosis, lash ptosis, and periocular skin changes. c Age 14, with progression of his bilateral ptosis, lash ptosis, and periocular pigmentary skin changes