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

Hamid Reza Moein, Hajirah N. Saeed, Deborah S. Jacobs, Yuna Rapoport, Michael K. Yoon, Ankoor S. Shah, Haumith Khan, Duna Raoof, Ula V. Jurkunas

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)16-19
Number of pages4
JournalAmerican Journal of Ophthalmology Case Reports
Volume13
DOIs
StatePublished - Mar 2019

Fingerprint

Entropion
Chromosomes, Human, Pair 22
Eyelids
Newborn Infant
Ectropion
Genetic Testing
Eye Manifestations
Fluorometholone
Medroxyprogesterone
Hypertelorism
Eyebrows
Corneal Ulcer
Contact Lenses
Bandages
Ulcer
Observation
Phenotype
Chromosome 22q11.2 Microduplication Syndrome
Warburg Sjo Fledelius syndrome

Keywords

  • Chromosome 22q11.2 duplication syndrome
  • Congenital entropion
  • Corneal ulcer
  • Lagophthalmos
  • Partial tarsorrhaphy

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome. / Moein, Hamid Reza; Saeed, Hajirah N.; Jacobs, Deborah S.; Rapoport, Yuna; Yoon, Michael K.; Shah, Ankoor S.; Khan, Haumith; Raoof, Duna; Jurkunas, Ula V.

In: American Journal of Ophthalmology Case Reports, Vol. 13, 03.2019, p. 16-19.

Research output: Contribution to journalArticle

Moein, Hamid Reza ; Saeed, Hajirah N. ; Jacobs, Deborah S. ; Rapoport, Yuna ; Yoon, Michael K. ; Shah, Ankoor S. ; Khan, Haumith ; Raoof, Duna ; Jurkunas, Ula V. / Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome. In: American Journal of Ophthalmology Case Reports. 2019 ; Vol. 13. pp. 16-19.
@article{1346f0b252714356a2351a7a96de95bd,
title = "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, Partial tarsorrhaphy",
author = "Moein, {Hamid Reza} and Saeed, {Hajirah N.} and Jacobs, {Deborah S.} and Yuna Rapoport and Yoon, {Michael K.} and Shah, {Ankoor S.} and Haumith Khan and Duna Raoof and Jurkunas, {Ula V.}",
year = "2019",
month = "3",
doi = "10.1016/j.ajoc.2018.11.001",
language = "English (US)",
volume = "13",
pages = "16--19",
journal = "American Journal of Ophthalmology Case Reports",
issn = "2451-9936",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome

AU - Moein, Hamid Reza

AU - Saeed, Hajirah N.

AU - Jacobs, Deborah S.

AU - Rapoport, Yuna

AU - Yoon, Michael K.

AU - Shah, Ankoor S.

AU - Khan, Haumith

AU - Raoof, Duna

AU - Jurkunas, Ula V.

PY - 2019/3

Y1 - 2019/3

N2 - 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.

AB - 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.

KW - Chromosome 22q11.2 duplication syndrome

KW - Congenital entropion

KW - Corneal ulcer

KW - Lagophthalmos

KW - Partial tarsorrhaphy

UR - http://www.scopus.com/inward/record.url?scp=85056721379&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85056721379&partnerID=8YFLogxK

U2 - 10.1016/j.ajoc.2018.11.001

DO - 10.1016/j.ajoc.2018.11.001

M3 - Article

AN - SCOPUS:85056721379

VL - 13

SP - 16

EP - 19

JO - American Journal of Ophthalmology Case Reports

JF - American Journal of Ophthalmology Case Reports

SN - 2451-9936

ER -