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

Year Number of Results
1969 1
1991 1
1995 1
1997 1
1999 1
2002 1
2003 2
2005 1
2006 1
2009 1
2010 4
2011 1
2012 1
2013 1
2016 1
2017 2
2018 2
2019 1
2021 2
2023 1
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26 results

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Page 1
Genetics of primary glaucoma.
Khan AO. Khan AO. Curr Opin Ophthalmol. 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2. Curr Opin Ophthalmol. 2011. PMID: 21730848 Review.
In 2009, patients diagnosed with congenital/infantile glaucoma were found to have recessive mutations in a second gene, LTBP2, with a phenotypic spectrum that includes primary megalocornea, spherophakia with ectopia lentis, and lens-related glaucoma. The most common identi …
In 2009, patients diagnosed with congenital/infantile glaucoma were found to have recessive mutations in a second gene, LTBP2, with a phenot …
Ocular genetic disease in the Middle East.
Khan AO. Khan AO. Curr Opin Ophthalmol. 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. Curr Opin Ophthalmol. 2013. PMID: 23846189 Review.
Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior mi …
Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glauc …
Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X. Gao F, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Aug;259(8):2379-2387. doi: 10.1007/s00417-021-05172-6. Epub 2021 Apr 19. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33876278 Free PMC article. Review.
Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan's syndrome, retinopathy of premat …
Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia …
Alport syndrome. A review of the ocular manifestations.
Colville DJ, Savige J. Colville DJ, et al. Ophthalmic Genet. 1997 Dec;18(4):161-73. doi: 10.3109/13816819709041431. Ophthalmic Genet. 1997. PMID: 9457747 Review.
Additional ocular features described in X-linked Alport syndrome include other corneal dystrophies, microcornea, arcus, iris atrophy, cataracts, spontaneous lens rupture, spherophakia, posterior lenticonus, a poor macular reflex, fluorescein angiogram hyperfluorescence, el …
Additional ocular features described in X-linked Alport syndrome include other corneal dystrophies, microcornea, arcus, iris atrophy, catara …
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V. Marzin P, et al. J Med Genet. 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. J Med Genet. 2024. PMID: 37734846 Review.
RESULTS: 61 patients were included: 18 individuals from our cohort and 43 patients from literature. 21 had variants in ADAMTS17, 19 in FBN1, 19 in ADAMTS10 and 2 in LTBP2. All individuals presented with eye anomalies, mainly spherophakia (42/61) and ectopia lentis (39/61). …
RESULTS: 61 patients were included: 18 individuals from our cohort and 43 patients from literature. 21 had variants in ADAMTS17, 19 in FBN1, …
Weill-Marchesani syndrome in three generations.
Evereklioglu C, Hepsen IF, Er H. Evereklioglu C, et al. Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. doi: 10.1038/eye.1999.226. Eye (Lond). 1999. PMID: 10707143 Review.
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. METHODS: We report 6 patients with Weill-Marchesani syndrome (with or without ocular involvement) in th …
BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lenti …
Ultrasound biomicroscopic features of spherophakia.
Macken PL, Pavlin CJ, Tuli R, Trope GE. Macken PL, et al. Aust N Z J Ophthalmol. 1995 Aug;23(3):217-20. doi: 10.1111/j.1442-9071.1995.tb00160.x. Aust N Z J Ophthalmol. 1995. PMID: 8534447
BACKGROUND: Spherophakia is an uncommon diagnosis. This is the first case report of spherophakia evaluated by ultrasound biomicroscopy. ...CONCLUSIONS: Ultrasound biomicroscopy is a useful technique to confirm the diagnosis of spherophakia. The pupil block in …
BACKGROUND: Spherophakia is an uncommon diagnosis. This is the first case report of spherophakia evaluated by ultrasound biomi …
Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS. Stanbury K, et al. PLoS One. 2023 Dec 28;18(12):e0295851. doi: 10.1371/journal.pone.0295851. eCollection 2023. PLoS One. 2023. PMID: 38153936 Free PMC article.
An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cataracts. Follow-up consultations revealed cataract progression, retinal detachment, uveitis and secondary glaucoma. ...
An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cata …
26 results