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

Abstract

PurposeChromosome 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.ObservationA 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 importanceThis 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.

Neonatal corneal ulcer secondary to congenital entropion

“… 4 The underlying etiologies of corneal infection also differ in this young age group ( Table 1 ). 4 , 5 …”

22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

“…Congenital eyelid abnormalities and corneal ulcerations were also reported in a newborn with the duplication syndrome, but LCR22B and LCR22D breakpoints were not identified. 36 Subject 1 had normal inner and outer canthal distances. An association between 22q11.2 duplications and congenital cardiac diseases has been reported, further highlighting that hypoplastic left heart syndrome with hypoplastic pulmonary arteries can be present as seen in individuals with the 22q11.2 deletion.…”