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2008 1
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Page 1
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Matmat K, Guéant-Rodriguez RM, Oussalah A, Wiedemann-Fodé A, Dionisi-Vici C, Coelho D, Guéant JL, Conart JB. Matmat K, et al. Hum Genet. 2022 Jul;141(7):1239-1251. doi: 10.1007/s00439-021-02350-8. Epub 2021 Oct 15. Hum Genet. 2022. PMID: 34652574 Review.
Retinal and macular degeneration worsened despite early treatment and stabilized systemic function in these patients. The functional prognosis remains poor with final visual acuity < 20/200 in 55.6% (25/45) of cases. ...
Retinal and macular degeneration worsened despite early treatment and stabilized systemic function in these patients. The functional prog …
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y, Xiao X, Li X, Yi Z, Jiang Y, Zhang F, Zhou L, Li S, Jia X, Sun W, Wang P, Zhang Q. Wang Y, et al. Br J Ophthalmol. 2023 Oct;107(10):1545-1553. doi: 10.1136/bjo-2022-321511. Epub 2022 Sep 30. Br J Ophthalmol. 2023. PMID: 36180177 Free PMC article.
METHODS: Variants in 14 genes reported to contribute to eoHM, including ARR3, were selected from exome sequencing data set and classified into different categories following American College of Medical Genetics and Genomics guidelines based on in silico prediction, associa …
METHODS: Variants in 14 genes reported to contribute to eoHM, including ARR3, were selected from exome sequencing data set and classified in …
Ophthalmologic findings in contact sport disciplines.
Borrione P, Quaranta F, DE Luca V, Sperandii F, Ciminelli E, Cantera E, Fagnani F, Pigozzi F. Borrione P, et al. J Sports Med Phys Fitness. 2016 Dec;56(12):1598-1601. Epub 2015 Sep 2. J Sports Med Phys Fitness. 2016. PMID: 26333793
Analysis of Posterior Vitreous Detachment and Development of Complications Using a Large Database of Retina Specialists.
Patel PR, Minkowski J, Dajani O, Weber J, Boucher N, MacCumber MW. Patel PR, et al. Ophthalmol Retina. 2023 Mar;7(3):203-214. doi: 10.1016/j.oret.2022.11.009. Epub 2022 Nov 22. Ophthalmol Retina. 2023. PMID: 36423892
Among eyes with lattice/peripheral retinal degeneration, 44.2% experienced any complication throughout the clinical course. The presence of a retinal break in the fellow eye and retinal detachment in the fellow eye was associated with a significantly increased rate of any …
Among eyes with lattice/peripheral retinal degeneration, 44.2% experienced any complication throughout the clinical course. The prese …
Sclera as the target tissue in progressive myopia.
Iomdina E, Tarutta E, Markossian G, Aksenova J, Smirnova T, Bedretdinov A. Iomdina E, et al. Pomeranian J Life Sci. 2015;61(2):146-52. doi: 10.21164/pomjlifesci.69. Pomeranian J Life Sci. 2015. PMID: 27141597
Our findings contribute to the understanding of myopia pathogenesis and to the diagnostic/prognostic evaluation of myopic children, in particular when deciding whether sclera-strengthening intervention is needed....
Our findings contribute to the understanding of myopia pathogenesis and to the diagnostic/prognostic evaluation of myopic children, i …
Rhegmatogenous retinal detachments in children in India: clinical characteristics, risk factors, and surgical outcomes.
Wadhwa N, Venkatesh P, Sampangi R, Garg S. Wadhwa N, et al. J AAPOS. 2008 Dec;12(6):551-4. doi: 10.1016/j.jaapos.2008.05.002. Epub 2008 Oct 2. J AAPOS. 2008. PMID: 18835797
The presence of anterior proliferative vitreoretinopathy is a poor prognostic factor in terms of both anatomic success as well as visual improvement....
The presence of anterior proliferative vitreoretinopathy is a poor prognostic factor in terms of both anatomic success as well as vis …
Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.
Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Li H, Jin C, Liang X, Lu L. Huang X, et al. Int J Mol Med. 2018 Oct;42(4):1819-1826. doi: 10.3892/ijmm.2018.3752. Epub 2018 Jul 4. Int J Mol Med. 2018. PMID: 30015854 Free PMC article.
The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis. The c.1310G>C mutation was predicted to damage protein structure and function, and the c.2302-1G>A mutation was predi …
The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) ana …