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PAX6 mutations reviewed.
Prosser J, van Heyningen V. Prosser J, et al. Hum Mutat. 1998;11(2):93-108. doi: 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9482572 Review.
Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia. No locus other than chromosome 11p13 has been implicate …
Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital catar …
Primary congenital and developmental glaucomas.
Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Lewis CJ, et al. Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36. doi: 10.1093/hmg/ddx205. Hum Mol Genet. 2017. PMID: 28549150 Free PMC article. Review.
Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cau …
Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. …
Corneal epithelial stem cells for corneal injury.
Bremond-Gignac D, Copin H, Benkhalifa M. Bremond-Gignac D, et al. Expert Opin Biol Ther. 2018 Sep;18(9):997-1003. doi: 10.1080/14712598.2018.1508443. Epub 2018 Aug 9. Expert Opin Biol Ther. 2018. PMID: 30092649 Review.
This corneal deficiency includes both classical ocular diseases (as chemical burns) and rare ocular diseases (as congenital aniridia and ocular cicatricial pemphigoid). AREAS COVERED: Our understanding of limbal epithelial stem cells (LESCs) has increased the potential for …
This corneal deficiency includes both classical ocular diseases (as chemical burns) and rare ocular diseases (as congenital aniridia …
Systemic Associations of Childhood Glaucoma: A Review.
Midha N, Sidhu T, Chaturvedi N, Sinha R, Shende DR, Dada T, Gupta V, Sihota R. Midha N, et al. J Pediatr Ophthalmol Strabismus. 2018 Nov 19;55(6):397-402. doi: 10.3928/01913913-20180905-01. J Pediatr Ophthalmol Strabismus. 2018. PMID: 30452766 Review.
METHODS: Patients younger than 15 years and diagnosed as having glaucoma were divided into four groups: isolated primary congenital glaucoma, glaucoma with other congenital ocular anomalies, congenital glaucoma with known systemic diseases, and secondary glaucoma. ...In th …
METHODS: Patients younger than 15 years and diagnosed as having glaucoma were divided into four groups: isolated primary congenital g …
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D. Daruich A, et al. Prog Retin Eye Res. 2023 Jul;95:101133. doi: 10.1016/j.preteyeres.2022.101133. Epub 2022 Oct 22. Prog Retin Eye Res. 2023. PMID: 36280537 Free PMC article. Review.
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder rather than a simp …
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with othe …
Aniridia: recent achievements in paediatric practice.
Ivanov I, Shuper A, Shohat M, Snir M, Weitz R. Ivanov I, et al. Eur J Pediatr. 1995 Oct;154(10):795-800. doi: 10.1007/BF01959784. Eur J Pediatr. 1995. PMID: 8529675 Review.
Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is al …
Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndr …
Guidelines for genetic study of aniridia.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C. Blanco-Kelly F, et al. Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. Arch Soc Esp Oftalmol. 2013. PMID: 23597644 Review. English, Spanish.
INTRODUCTION: Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia is inherited as an autosomal dominant condition and is caused by …
INTRODUCTION: Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated …
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Rao A, Padhy D, Sarangi S, Das G. Rao A, et al. Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8. Semin Ophthalmol. 2018. PMID: 27929720 Review.
Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's …
Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endotheli …
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H. Matsushita I, et al. Jpn J Ophthalmol. 2020 Nov;64(6):635-641. doi: 10.1007/s10384-020-00766-9. Epub 2020 Aug 28. Jpn J Ophthalmol. 2020. PMID: 32857266 Review.
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only …
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated di …
Congenital malformations of the eye and orbit.
Guercio JR, Martyn LJ. Guercio JR, et al. Otolaryngol Clin North Am. 2007 Feb;40(1):113-40, vii. doi: 10.1016/j.otc.2006.11.013. Otolaryngol Clin North Am. 2007. PMID: 17346564 Review.
Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as part of a larger systemic malformation syndrome. Many malformations can severely impair vision, whereas others have only cosmetic significance, …
Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as par …
14 results