Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome

Abstract

Purpose: Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Here, we report a newborn with bilateral exposure, entropion, and corneal ulceration related to 22q11.2 MDS.

Observation: A newborn girl presented with bilateral upper eyelid entropion, bilateral lower eyelid ectropion, and lagophthalmos. She subsequently developed bilateral corneal ulcers. Topical antibacterial drops, bandage contact lenses, medroxyprogesterone 1%, and fluorometholone 0.1%, together with partial tarsorrhaphy and correction of eyelid malposition, were used to treat the ulcers and address the underlying issues of exposure and entropion. Genetic testing revealed chromosome 22q11.2.MDS; further evaluation revealed systemic manifestations of this syndrome. The ocular surface healed well with gradual improvement of corneal opacification as well as bilateral partial tarsorrhaphy.

Conclusion and importance: This report is the first that describes a newborn with 22q11.2 MDS presenting with sight-threatening corneal ulceration. Entropion, ectropion, and lagophthalmos were identified and treated, allowing for healing of the corneal surface. Genetic testing revealed a syndrome not known to be associated with eyelid abnormalities and corneal ulceration, but with other important systemic and ocular implications. Bilateral partial tarsorrhaphy should not be excluded as a treatment option for infants who fail more conservative measures for the treatment of exposure.

Keywords: Chromosome 22q11.2 duplication syndrome; Congenital entropion; Corneal ulcer; Lagophthalmos; MDS, Microduplication syndrome; Partial tarsorrhaphy.

Fig. 1

Congenital eyelid abnormalities in a newborn with chromosome 22 q11.2 MDS. A) Patient's eyelids on day 9 of life prior to eyelid surgery, demonstrating bilateral upper eyelid entropion, and bilateral lower eyelid ectropion. B) Patient's eyelids one month after upper eyelid entropion repair and tarsorrhaphies.

Fig. 2

Images of the patient's ocular surface on day 9 of life (A and B), day 90 of life (C and D) and most recent follow up exam at age 23 months (E and F). A) Right eye, opened with an eyelid speculum; inferotemporal 2.5 mm × 1.5 mm corneal stromal infiltrate and scarring. B) Left eye, opened with an eyelid speculum; central 6.5 mm × 7 mm stromal infiltrate with central neovascularization. C) Right eye, improved scarring with resolution of active infiltrate. D) Left eye, 5.5 mm × 5.0 mm inferocentral corneal scar. E) Unchanged compared to previous exam with clear visual axis. F) Left eye, inferocentral 3.5 mm × 4 mm corneal opacity with central corneal clearing. Fluorescein depicted in images E and F is pooling and not reflective of epithelial defect.