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Page 1
Showing results for S. aniridia
Search for S. Amirinia instead (3 results)
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Vasilyeva TA, Marakhonov AV, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Int J Mol Sci. 2022 Jun 15;23(12):6690. doi: 10.3390/ijms23126690. Int J Mol Sci. 2022. PMID: 35743132 Free PMC article. Review.
MLPA and Sanger sequencing were used for mutation searching in a cohort of 199 index patients from Russia with aniridia and aniridia-related phenotypes. The relative frequencies of different categories of PAX6 mutations were consistent with those previously reported …
MLPA and Sanger sequencing were used for mutation searching in a cohort of 199 index patients from Russia with aniridia and anirid …
Future directions in managing aniridia-associated keratopathy.
van Velthoven AJH, Utheim TP, Notara M, Bremond-Gignac D, Figueiredo FC, Skottman H, Aberdam D, Daniels JT, Ferrari G, Grupcheva C, Koppen C, Parekh M, Ritter T, Romano V, Ferrari S, Cursiefen C, Lagali N, LaPointe VLS, Dickman MM. van Velthoven AJH, et al. Surv Ophthalmol. 2023 Sep-Oct;68(5):940-956. doi: 10.1016/j.survophthal.2023.04.003. Epub 2023 May 4. Surv Ophthalmol. 2023. PMID: 37146692 Free article. Review.
Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratopathy (AAK). ...
Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratop …
[Staging of aniridia-associated keratopathy].
Náray A, Fries FN, Csidey M, Kéki-Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Csorba A, Kormányos K, Szabó D, Corton M, Tory K, Nagy ZZ, Maka E, Szentmáry N. Náray A, et al. Orv Hetil. 2023 Jul 9;164(27):1063-1069. doi: 10.1556/650.2023.32803. Print 2023 Jul 9. Orv Hetil. 2023. PMID: 37422887 Hungarian.
OBJECTIVE: To analyze aniridia-associated keratopathy stages, using available literature classifications, in patients with aniridia in Hungary. ...CONCLUSION: We recommend using Lagali's staging scheme for aniridia-associated keratoptahy due to its eas …
OBJECTIVE: To analyze aniridia-associated keratopathy stages, using available literature classifications, in patients with aniridi …
Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions.
Latta L, Figueiredo FC, Ashery-Padan R, Collinson JM, Daniels J, Ferrari S, Szentmáry N, Solá S, Shalom-Feuerstein R, Lako M, Xapelli S, Aberdam D, Lagali N. Latta L, et al. Ocul Surf. 2021 Oct;22:245-266. doi: 10.1016/j.jtos.2021.09.001. Epub 2021 Sep 11. Ocul Surf. 2021. PMID: 34520870 Free article. Review.
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK). ...They also highlight areas for future research to enable a deeper understanding …
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced limbal insufficiency and ocular surface path …
PAX6 aniridia syndrome: clinics, genetics, and therapeutics.
Lim HT, Kim DH, Kim H. Lim HT, et al. Curr Opin Ophthalmol. 2017 Sep;28(5):436-447. doi: 10.1097/ICU.0000000000000405. Curr Opin Ophthalmol. 2017. PMID: 28598868 Review.
PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. ...RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabol …
PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impac …
Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches.
Landsend ECS, Lagali N, Utheim TP. Landsend ECS, et al. Surv Ophthalmol. 2021 Nov-Dec;66(6):1031-1050. doi: 10.1016/j.survophthal.2021.02.011. Epub 2021 Mar 4. Surv Ophthalmol. 2021. PMID: 33675823 Free article. Review.
Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, leading to involvement of most eye structures. ...
Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic or …
[Sporadic aniridia and Wilm's tumor--a case report and review of recommendation for diagnostic approach in WAGR's syndrome].
Orawiec B, Młynarski W, Budzińska-Mikurenda M, Grałek M, Szewczyk-Zalewska B, Niwald A. Orawiec B, et al. Klin Oczna. 2010;112(10-12):321-3. Klin Oczna. 2010. PMID: 21473084 Review. Polish.
The current paper presents a case of 14 months old girl with WAGR's syndrome. This syndrome is a genetic disorder characterized by the deletion at 11p13 locus which gives clinical presentation of aniridia, Wilms' tumor, genitourinary anomalies and mental retardation …
The current paper presents a case of 14 months old girl with WAGR's syndrome. This syndrome is a genetic disorder characterized by th …
New horizons in aniridia management: Clinical insights and therapeutic advances.
Gour A, Tibrewal S, Garg A, Vohra M, Ratna R, Sangwan VS. Gour A, et al. Taiwan J Ophthalmol. 2023 Dec 20;13(4):467-478. doi: 10.4103/tjo.TJO-D-23-00140. eCollection 2023 Oct-Dec. Taiwan J Ophthalmol. 2023. PMID: 38249501 Free PMC article. Review.
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, ani …
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various t …
Color Vision in Aniridia.
Pedersen HR, Hagen LA, Landsend ECS, Gilson SJ, Utheim ØA, Utheim TP, Neitz M, Baraas RC. Pedersen HR, et al. Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):2142-2152. doi: 10.1167/iovs.17-23047. Invest Ophthalmol Vis Sci. 2018. PMID: 29801149 Free PMC article.
PURPOSE: To assess color vision and its association with retinal structure in persons with congenital aniridia. METHODS: We included 36 persons with congenital aniridia (10-66 years), and 52 healthy, normal trichromatic controls (10-74 years) in the study. ...Of the …
PURPOSE: To assess color vision and its association with retinal structure in persons with congenital aniridia. METHODS: We included …
Congenital Aniridia and Ocular motility.
Alafaleq M, Sordello L, Bremond-Gignac D. Alafaleq M, et al. Am J Ophthalmol. 2023 Mar;247:145-151. doi: 10.1016/j.ajo.2022.11.003. Epub 2022 Nov 11. Am J Ophthalmol. 2023. PMID: 36375586
PURPOSE: To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts. ...The mean follow-up was 24 months. Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7% …
PURPOSE: To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplas …
927 results