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Page 1
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. ...Furthermore, under …
Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dys …
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K. Verma IC, et al. Indian J Pediatr. 2018 Mar;85(3):228-236. doi: 10.1007/s12098-017-2453-7. Epub 2017 Oct 2. Indian J Pediatr. 2018. PMID: 28971364 Review.
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an a …
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prena …
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS, Grigg JR, Jamieson RV. Ma AS, et al. Hum Genet. 2019 Sep;138(8-9):899-915. doi: 10.1007/s00439-018-1935-7. Epub 2018 Sep 21. Hum Genet. 2019. PMID: 30242500 Review.
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. ...We also highlight phenotype-genotype corr …
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Ri …
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. Lenassi E, et al. Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18. Genet Med. 2020. PMID: 31848469 Free PMC article.
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. ...The test …
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis …
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa.
Liu X, Li J, Lin S, Xiao X, Luo J, Wei W, Ling Y, Fang L, Xiao H, Chen L, Huang J, Zhong Y, Zhang Q. Liu X, et al. Exp Eye Res. 2020 Aug;197:108118. doi: 10.1016/j.exer.2020.108118. Epub 2020 Jun 17. Exp Eye Res. 2020. PMID: 32562694
The 326 genes included 10 PACG-associated genes from two genome wide association studies; 45 genes associated with anterior segment dysgenesis, microcornea, and microphthalmia; and 271 RetNet genes. ...Systematic analysis of the variants revealed that 16 of 3 …
The 326 genes included 10 PACG-associated genes from two genome wide association studies; 45 genes associated with anterior segmen …
Management of strabismus related to infantile glaucoma: Case series.
Güemes Villahoz N, Morales Fernández L, Narváez Palazón C, Moreno MN, Gómez de Liaño Sánchez MR. Güemes Villahoz N, et al. Arch Soc Esp Oftalmol (Engl Ed). 2021 Jun;96(6):293-298. doi: 10.1016/j.oftale.2020.09.004. Epub 2021 Jan 6. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34092283
Primary congenital glaucoma was the most common (71,42%), 14,28% had an anterior segment dysgenesis and 14,28% had secondary glaucoma. Regarding strabismus, 4 patients had exotropia and 3 had esotropia. ...
Primary congenital glaucoma was the most common (71,42%), 14,28% had an anterior segment dysgenesis and 14,28% had seco …
Timing of Diagnosis and Treatment of Glaucoma following Infantile Cataract Surgery.
Nihalani BR, VanderVeen DK. Nihalani BR, et al. Ophthalmol Glaucoma. 2024 May-Jun;7(3):290-297. doi: 10.1016/j.ogla.2023.12.003. Epub 2023 Dec 15. Ophthalmol Glaucoma. 2024. PMID: 38104771
PURPOSE: To report timing of diagnosis and treatment of glaucoma following cataract surgery (GFCS) in a large cohort of infants undergoing cataract surgery at a tertiary care center. STUDY DESIGN: Cross-sectional study. PARTICIPANTS: All consecutive infants that underwent …
PURPOSE: To report timing of diagnosis and treatment of glaucoma following cataract surgery (GFCS) in a large cohort of infants undergoing c …
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y, Jia H, Ma Q, Zhang R, Jiao Y. Yu Y, et al. BMC Ophthalmol. 2023 Aug 8;23(1):349. doi: 10.1186/s12886-023-03054-5. BMC Ophthalmol. 2023. PMID: 37553561 Free PMC article.
All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distrib …
All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis …
Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
Strungaru MH, Dinu I, Walter MA. Strungaru MH, et al. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37. doi: 10.1167/iovs.06-0472. Invest Ophthalmol Vis Sci. 2007. PMID: 17197537
One hundred twenty-six patients with ARM, representing 20 different probands, with FOXC1 and PITX2 alterations were included in the study. RESULTS: ARM-associated glaucoma is a bilateral anterior segment dysgenesis disease that affects males and females equal …
One hundred twenty-six patients with ARM, representing 20 different probands, with FOXC1 and PITX2 alterations were included in the study. R …
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.
Mezad-Koursh D, Rosenfeld E, Bachar Zipori A, Zur D, Elhanan E, Ben-Shachar S. Mezad-Koursh D, et al. Eur J Hum Genet. 2023 Jan;31(1):125-127. doi: 10.1038/s41431-022-01195-7. Epub 2022 Oct 20. Eur J Hum Genet. 2023. PMID: 36261622 Free PMC article.
We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations …
We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior …