Ocular Manifestations of 22q11.2 Microduplication

Cordovez, Jose A.; Capasso, Jenina E.; Lingao, Michelle D.; Sadagopan, Karthikeyan Arcot; Spaeth, George L.; Wasserman, Barry N.; Levin, Alex V.

doi:10.1016/j.ophtha.2013.06.040

Cited by 21 publications

(18 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The MAPK1 gene is reportedly associated with CCDD while the CLDN5 gene may be involved in the pathophysiology of glaucoma. 35 The SNAP29 gene was identified in our subject 2 and is related to retinal vascular tortuosity. Our subject 2 also had slanting of the palpebral fissures, which is one of the reported ocular manifestations in the microduplication syndrome.…”

Section: Genetic Landscape Of Chromosome 22q112 Regionmentioning

confidence: 81%

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

Oyetunji

Butler

2020

J Pediatr Genet

View full text Add to dashboard Cite

We present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findings with similar cases from the literature sharing the same 22q11.2 duplications. These rare duplications in our subjects were identified by high-resolution chromosomal microarray analysis and flanked by low copy repeats in the 22q11.2 region, specifically LCR22A, LCR22B, and LCR22D. The typical 22q11.2 defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome and not duplications of varying sizes as seen in our male subjects.

show abstract

Section: Genetic Landscape Of Chromosome 22q112 Regionmentioning

confidence: 81%

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

Oyetunji

Butler

2020

J Pediatr Genet

View full text Add to dashboard Cite

show abstract

“…[9][10][11] The other anomalies are quite varied and include ocular anomalies, microcephaly, cleft lip, thyroid hemiagenesis, and subtle dysmorphic facial features. 8,[12][13][14][15] In addition, an increasing number of recent studies have shown a higher incidence of autism spectrum and psychiatric disorders in those with this microduplication but, surprisingly, it has also been shown to provide some protection against schizophrenia. [16][17][18][19][20][21] There are reports of variable cognitive deficits, which are generally mild.…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Microduplication: An Enigmatic Genetic Disorder

Kylat

2018

J Pediatr Genet

View full text Add to dashboard Cite

Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11.2, which was confirmed postnatally. Although micrognathia has often been detected in this microduplication, the constellation of these findings has not been previously described.

show abstract

“… 1 , 2 , 3 , 4 The most common ocular manifestations include hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis. 1 , 2 , 5 Cordovez et al recently reported new ocular findings in these patients including Marcus Gunn jaw winking phenomenon, glaucoma, esotropia, gaze palsies, retinal detachment, retinal vascular tortuosity, and early cataract. 5 Gandhi et al also reported falciform macular folds and familial exudative vitreoretinopathy in a girl with 22q11.2 microduplication.…”

Section: Introductionmentioning

confidence: 90%

“… 1 , 2 , 5 Cordovez et al recently reported new ocular findings in these patients including Marcus Gunn jaw winking phenomenon, glaucoma, esotropia, gaze palsies, retinal detachment, retinal vascular tortuosity, and early cataract. 5 Gandhi et al also reported falciform macular folds and familial exudative vitreoretinopathy in a girl with 22q11.2 microduplication. 6 We report a case of a newborn girl with novel ophthalmic manifestations of chromosome 22 q11.2 MDS.…”

Section: Introductionmentioning

confidence: 90%

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

Moein

Saeed

Jacobs

et al. 2019

American Journal of Ophthalmology Case Reports

View full text Add to dashboard Cite

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.

show abstract

Ocular Manifestations of 22q11.2 Microduplication

Cited by 21 publications

References 44 publications

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

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

22q11.2 Microduplication: An Enigmatic Genetic Disorder

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

Contact Info

Product

Resources

About