Congenital fibrosis of the extraocular muscles

Price, Jade M.; Boparai, Ranjodh S; Wasserman, Barry N.

doi:10.1097/icu.0000000000000592

Cited by 12 publications

(10 citation statements)

References 17 publications

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“…In several previous reports, researchers found that abnormality of eye movement is associated with DURS, CFEOM, and abnormality of the optic nerve ( 8 , 9 ). There have been no reported cases of CES with an abnormality of eye movement.…”

Section: Discussionmentioning

confidence: 94%

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

Shen

Zheng

et al. 2023

Front. Pediatr.

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BackgroundCat eye syndrome (CES) is a rare disease with a wide spectrum of phenotypic variability that is observed in 1:150,000 newborns. CES is characterized clinically by the combination of iris coloboma, anal atresia, and preauricular tags and/or pits. Many eye malformations have been reported to be associated with CES, such as iris and chorioretinal coloboma. However, an abnormality of eye movement has not been previously reported.Case presentationWe report on a Chinese family carrying a 22q11.1-q11.21 duplication of 1.7Mb tetrasomy (chr22:16,500,000–18,200,000, hg38) in two generations. Based on the proband and her father’s clinical manifestations, including ophthalmological examination, cytogenetic analysis, FISH, CNV-seq, and WES, the diagnosis of CES with an abnormality of eye movement was made.ConclusionOur findings broadened the symptom spectrum of CES syndrome and laid the foundation for pathogenesis, diagnostic targets, and drug research on the abnormality of eye movement, and were helpful for early diagnosis and intervention of CES.

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Section: Discussionmentioning

confidence: 94%

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

Shen

Zheng

et al. 2023

Front. Pediatr.

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“…Congenital isolated ptosis most often occurs sporadically but can also be familial, and several loci and candidate genes have been suggested, including 1p32‐1p34.1, Xq24‐27.1, and the ZFH4 gene at 8q21.12 . Congenital ptosis can be part of numerous genetic syndromes, some examples are congenital fibrosis of the extraocular muscles ( KIF21A , PHOX2A , TUBB3 ), SIX2 haploinsufficiency, various types of myopathy, neurogenetic diseases, and mitochondrial diseases . The 1p36.13‐1p36.12 microdeletion syndrome presented here is a new syndrome with ptosis as a distinct feature.…”

Section: Discussionmentioning

confidence: 99%

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

et al. 2020

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Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1 Mb at 1p36. 13-1p36.12 (chr1:19077793-20081292 (GRCh37/hg19)) defining a new contiguous gene deletion syndrome. The characteristic features of this new syndrome are learning disability or mild intellectual disability, speech delay, behavioral abnormalities, and ptosis. The genes UBR4 and CAPZB are considered the most likely candidate genes for the features of this new syndrome. K E Y W O R D S behavioral abnormality, chromosome deletion, chromosomes, learning disability, human pair 1, ptosis

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“…By contrast, mutations in TUBB2B, TUBA1A , ECEL1 , and COL25A1 that cause CFEOM phenotypes were only recently reported in sporadic cases. Pathogenic variants in these genes generally result in the abnormal development of either cranial nuclei or nerve axons connected to the extraocular muscles, which is also known as “dysinnervation” [ 24 ]. It is now accepted that such primary dysinnervation leads to the fibrosis of the extraocular muscles and consequent ophthalmoplegia.…”

Section: Geneticsmentioning

confidence: 99%

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management

Xia

Wei

et al. 2022

Children

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Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders and is characterized by nonprogressive restrictive ophthalmoplegia. It is phenotypically and genotypically heterogeneous. At least seven causative genes and one locus are responsible for the five subtypes, named CFEOM-1 to CFEOM-5. This review summarizes the currently available molecular genetic findings and genotype–phenotype correlations, as well as the advances in the management of CFEOM. We propose that the classification of the disorder could be optimized to provide better guidance for clinical interventions. Finally, we discuss the future of genetic-diagnosis-directed studies to better understand such axon guidance disorders.

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Congenital fibrosis of the extraocular muscles

Cited by 12 publications

References 17 publications

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management

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