The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

Ma, Yajuan; Wu, Xingdi; Ni, Shuang; Chen, Xiang; He, Suhong; Xu, Wen

doi:10.1186/s12886-020-01406-z

Cited by 4 publications

(3 citation statements)

References 20 publications

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“…To date, there have been few cases of FOXC1-associated ARS described in the Chinese population [13][14][15]. We report on one 5-year-old Chinese boy with hypertelorism, conductive hearing loss, dental defects and pupillary deformation, not the core features of ARS and identi ed heterozygosity for a de novo deletion in the FOXC1 gene by whole exome sequencing.…”

Section: Introductionmentioning

confidence: 92%

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

Wang

Wang²,

Li³

et al. 2021

Preprint

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Background Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, therefore, clinical diagnosis present a huge challenge. Results In this study, we described a pathogenic variant in FOXC1 in one 5 year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linked to the FOXC1 variant and is coincidental. Conclusions Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

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Section: Introductionmentioning

confidence: 92%

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

Wang

Wang²,

Li³

et al. 2021

Preprint

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show abstract

“…Congenital and early-onset cataracts are common; however, lensectomy can be challenging due to corneal abnormalities, poor pupil dilation and iris floppiness. 65,66 In rare cases, congenital cataracts in ARS can be associated with persistent fetal vasculature and microphthalmia, which further complicates surgical removal. 17,24 Corneal involvement can be more extensive as eyes can also show Peters anomaly and sclerocornea.…”

Section: Ocular Manifestationsmentioning

confidence: 99%

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Michels¹,

Bohnsack²

2023

OPTH

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Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized by ocular anterior segment anomalies but is also associated with craniofacial, dental, cardiac, and neurologic abnormalities. Over half of cases are linked with autosomal dominant mutations in either FOXC1 or PITX2, which reflects the molecular role of these genes in regulating neural crest cell contributions to the eye, face, and heart. Within the eye, ARS is classically defined as the combination of posterior embryotoxon with iris bridging strands (Axenfeld anomaly) and iris hypoplasia causing corectopia and pseudopolycoria (Rieger anomaly). Glaucoma due to iridogoniodysgenesis is the main source of morbidity and is typically diagnosed during infancy or childhood in over half of affected individuals. Angle bypass surgery, such as glaucoma drainage devices and trabeculectomies, is often needed to obtain intraocular pressure control. A multi-disciplinary approach including glaucoma specialists and pediatric ophthalmologists produces optimal outcomes as vision is dependent on many factors including glaucoma, refractive error, amblyopia and strabismus. Further, since ophthalmologists often make the diagnosis, it is important to refer patients with ARS to other specialists including dentistry, cardiology, and neurology.

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“…To date, there have been a few cases of FOXC1 -associated ARS described in the Chinese population [ 13 – 15 ]. We report on one 5-year-old Chinese boy with hypertelorism, conductive hearing loss, dental defects and pupillary deformation, not the core features of ARS and identified heterozygosity for a de novo deletion in the FOXC1 gene by whole exome sequencing.…”

Section: Introductionmentioning

confidence: 99%

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

Wang

Li³

et al. 2021

BMC Med Genomics

View full text Add to dashboard Cite

Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3 bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Furthermore, Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linke to the FOXC1 variant and is coincidental. Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

show abstract

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

Cited by 4 publications

References 20 publications

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

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