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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
1999 1
2002 1
2003 1
2004 1
2006 2
2007 3
2008 1
2010 2
2011 1
2012 3
2013 4
2014 2
2015 4
2017 2
2018 3
2019 2
2020 5
2021 5
2022 10
2023 9
2024 2

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53 results

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Page 1
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I. Thomas MG, et al. Br J Ophthalmol. 2022 May;106(5):593-599. doi: 10.1136/bjophthalmol-2020-316348. Epub 2020 Nov 4. Br J Ophthalmol. 2022. PMID: 33148537 Review.
The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal children grading FH can help predict future visual acuity....
The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In …
Peter's anomaly-A homeotic gene disorder.
Kylat RI. Kylat RI. Acta Paediatr. 2022 May;111(5):948-951. doi: 10.1111/apa.16260. Epub 2022 Jan 31. Acta Paediatr. 2022. PMID: 35044009 Review.
For the dense leukoma, corneal graft may be needed but visual prognosis is poor. Research focussing on gene editing and regenerative medicine using native corneal endothelial cells is ongoing....
For the dense leukoma, corneal graft may be needed but visual prognosis is poor. Research focussing on gene editing and regenerative …
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 authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling …
Update on pediatric corneal diseases and keratoplasty.
Vanathi M, Raj N, Kusumesh R, Aron N, Gupta N, Tandon R. Vanathi M, et al. Surv Ophthalmol. 2022 Nov-Dec;67(6):1647-1684. doi: 10.1016/j.survophthal.2022.07.010. Epub 2022 Jul 30. Surv Ophthalmol. 2022. PMID: 35918016 Review.
Managing pediatric corneal disorders is challenging as the prognosis of pediatric keratoplasty depends on several factors. Advancements in the genetic basis of congenital corneal diseases and investigations in congenital corneal conditions provide a better understanding of …
Managing pediatric corneal disorders is challenging as the prognosis of pediatric keratoplasty depends on several factors. Advancemen …
Primary congenital glaucoma: An iridotrabeculodysgenesis?
Sihota R, Mahalingam K, Maurya AK, Sharma A, Bukke AN, Dada T. Sihota R, et al. Indian J Ophthalmol. 2024 Mar 1;72(3):328-334. doi: 10.4103/IJO.IJO_370_23. Epub 2023 Dec 15. Indian J Ophthalmol. 2024. PMID: 38099353 Free PMC article.
PURPOSE: To analyze primary congenital glaucoma (PCG) anterior chamber and angle anomalies over 360 as possible biomarkers of severity and prognosis. METHODS: A cross-sectional observational study was conducted analyzing anterior segment anomalies of PCG patients over 4 ye …
PURPOSE: To analyze primary congenital glaucoma (PCG) anterior chamber and angle anomalies over 360 as possible biomarkers of severity and …
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q. Wang P, et al. Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. Invest Ophthalmol Vis Sci. 2023. PMID: 36892533 Free PMC article. Review.
Ocular phenotypes of the patients with potential pathogenic variants in MAB21L1 were summarized, and the genotype-phenotype correlation was analyzed through a comprehensive literature review. RESULTS: Three heterozygous missense variants in MAB21L1, predicted to be damagin …
Ocular phenotypes of the patients with potential pathogenic variants in MAB21L1 were summarized, and the genotype-phenotype correlation was …
Bilateral anterior segment dysgenesis in a 7-week-old domestic shorthaired cat.
Douglas E. Douglas E. Can Vet J. 2022 Apr;63(4):435-438. Can Vet J. 2022. PMID: 35368399 Free PMC article.
Key clinical message: Anterior segment dysgenesis is a developmental condition that can result in primary congenital glaucoma for which the best course of treatment is enucleation....
Key clinical message: Anterior segment dysgenesis is a developmental condition that can result in primary congenital glaucoma for which the …
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.
Moreover, foveal hypoplasia is now recognized as a more frequent feature than complete iris hypoplasia and a major visual prognosis determinant, reversing the classical clinical picture of this disease. ...Altogether, these combined clinical-genetic approaches will help to …
Moreover, foveal hypoplasia is now recognized as a more frequent feature than complete iris hypoplasia and a major visual prognosis d …
The utility of genomic testing in the ophthalmology clinic: A review.
Burdon KP. Burdon KP. Clin Exp Ophthalmol. 2021 Aug;49(6):615-625. doi: 10.1111/ceo.13970. Epub 2021 Jul 23. Clin Exp Ophthalmol. 2021. PMID: 34231298 Review.
The advantages to the patient of receiving a molecular diagnosis include an end to the diagnostic odyssey, determination of prognosis and clarification of treatment, access to accurate genetic counselling, and confirming eligibility for clinical trials or genetic specific …
The advantages to the patient of receiving a molecular diagnosis include an end to the diagnostic odyssey, determination of prognosis …
53 results