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

Year Number of Results
1981 1
1985 1
1986 1
1987 1
1990 3
1991 1
1996 1
1999 1
2000 2
2001 1
2002 1
2003 3
2004 1
2005 1
2006 5
2007 2
2009 1
2010 3
2011 2
2012 4
2013 3
2014 1
2015 1
2016 8
2017 4
2018 3
2019 2
2020 7
2021 5
2022 4
2023 8
2024 2

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80 results

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Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51 …
It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), …
Visual Rehabilitation in Pediatric Aphakia.
Repka MX. Repka MX. Dev Ophthalmol. 2016;57:49-68. doi: 10.1159/000442501. Epub 2016 Apr 1. Dev Ophthalmol. 2016. PMID: 27043392 Review.
Visual outcomes will vary, with the best visual acuity results being observed in older children with bilateral cataracts. Visual rehabilitation of children with unilateral cataract requires use of a contact lens or an intraocular lens (IOL) for the best resul …
Visual outcomes will vary, with the best visual acuity results being observed in older children with bilateral cataracts …
Trifocal intraocular lenses versus bifocal intraocular lenses after cataract extraction among participants with presbyopia.
Zamora-de La Cruz D, Bartlett J, Gutierrez M, Ng SM. Zamora-de La Cruz D, et al. Cochrane Database Syst Rev. 2023 Jan 27;1(1):CD012648. doi: 10.1002/14651858.CD012648.pub3. Cochrane Database Syst Rev. 2023. PMID: 36705482 Free PMC article. Review.
Some studies also examined our secondary outcomes including uncorrected near, intermediate, and best-corrected distance visual acuity, as well as contrast sensitivity. Study characteristics All participants had bilateral cataracts with no pre-existing ocular patholo …
Some studies also examined our secondary outcomes including uncorrected near, intermediate, and best-corrected distance visual acuity, as we …
Visual acuity and its predictors after surgery for bilateral cataracts in children.
Bonaparte LA, Trivedi RH, Ramakrishnan V, Wilson ME. Bonaparte LA, et al. Eye (Lond). 2016 Sep;30(9):1229-33. doi: 10.1038/eye.2016.166. Epub 2016 Jul 29. Eye (Lond). 2016. PMID: 27472217 Free PMC article.
PurposeThe objective of this study was to investigate preoperative factors associated with postoperative visual acuity outcomes and to develop a model to predict visual acuity prognosis.MethodsA retrospective study was conducted by reviewing clinical charts of pediatric pa …
PurposeThe objective of this study was to investigate preoperative factors associated with postoperative visual acuity outcomes and to devel …
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.
Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Arch Neurol. 2000 Apr;57(4):520-4. doi: 10.1001/archneur.57.4.520. Arch Neurol. 2000. PMID: 10768627 Review.
A diagnosis of CTX should be considered in patients with premature bilateral cataracts, intractable diarrhea, neurological signs and symptoms, and tendon xanthomas, especially in the Achilles tendons. ...
A diagnosis of CTX should be considered in patients with premature bilateral cataracts, intractable diarrhea, neurological sig …
Presentation, surgery and 1-year outcomes of childhood cataract surgery in Tanzania.
Mndeme FG, Mmbaga BT, Msina M, Mwende J, Vaitha SJ, Kim MJ, Macleod D, Burton MJ, Gilbert CE, Bowman R. Mndeme FG, et al. Br J Ophthalmol. 2021 Mar;105(3):334-340. doi: 10.1136/bjophthalmol-2020-316042. Epub 2020 Jun 10. Br J Ophthalmol. 2021. PMID: 32522793 Free PMC article.
METHODS: We conducted a prospective study of 228 children aged 192 months at three tertiary centres, 177 with bilateral cataracts and prospectively followed them for 1-year postsurgery. ...CONCLUSION: Three-quarters of children were blind preoperatively whereas over …
METHODS: We conducted a prospective study of 228 children aged 192 months at three tertiary centres, 177 with bilateral cataracts …
Management of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)-A Case Report.
Drača N, Orešković EG, Lazić R, Vukojević M, Radolović Bertetić A, Vukojević N. Drača N, et al. Medicina (Kaunas). 2023 Dec 13;59(12):2158. doi: 10.3390/medicina59122158. Medicina (Kaunas). 2023. PMID: 38138261 Free PMC article.
Results: The patient received a diagnosis of BDUMP (bilateral diffuse uveal melanocytic proliferation), a paraneoplastic syndrome marked by simultaneous, bilateral, painless vision loss and the rapid onset of bilateral cataracts with serous retinal detachments. Desp …
Results: The patient received a diagnosis of BDUMP (bilateral diffuse uveal melanocytic proliferation), a paraneoplastic syndrome marked by …
White matter plasticity following cataract surgery in congenitally blind patients.
Pedersini CA, Miller NP, Gandhi TK, Gilad-Gutnick S, Mahajan V, Sinha P, Rokers B. Pedersini CA, et al. Proc Natl Acad Sci U S A. 2023 May 9;120(19):e2207025120. doi: 10.1073/pnas.2207025120. Epub 2023 May 1. Proc Natl Acad Sci U S A. 2023. PMID: 37126677 Free PMC article.
In this study, we assessed behavioral performance in both a visual acuity and a face perception task alongside longitudinal structural white matter changes in terms of fractional anisotropy (FA) and mean diffusivity (MD). We studied congenitally blind patients with dense bilat …
In this study, we assessed behavioral performance in both a visual acuity and a face perception task alongside longitudinal structural white …
Intraocular scattering as a predictor of driving performance in older adults with cataracts.
Ortiz-Peregrina S, Ortiz C, Salas C, Casares-López M, Soler M, Anera RG. Ortiz-Peregrina S, et al. PLoS One. 2020 Jan 14;15(1):e0227892. doi: 10.1371/journal.pone.0227892. eCollection 2020. PLoS One. 2020. PMID: 31935273 Free PMC article.
This cross-sectional study involved a total of 20 older drivers (10 patients with bilateral cataracts and 10 control subjects). All participants were examined for visual acuity, contrast sensitivity, visual discrimination capacity, and intraocular scattering. ...Fin …
This cross-sectional study involved a total of 20 older drivers (10 patients with bilateral cataracts and 10 control subjects) …
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
In vitro enzymatic assays and immunoblot assays were performed to confirm the pathogenicity of the variants. RESULTS: The highest blood galactose levels observed in each patient were 17.3-41.9 mg/dl. Bilateral cataracts were observed in two patients. . …
In vitro enzymatic assays and immunoblot assays were performed to confirm the pathogenicity of the variants. RESULTS: The highest blood gala …
80 results