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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. Whole genome sequence filt …
An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cata …
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.
Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T. Summanen P, et al. Invest Ophthalmol Vis Sci. 2002 May;43(5):1686-93. Invest Ophthalmol Vis Sci. 2002. PMID: 11980891
Multiple linear regression identified AL and corneal power as independent predictors of SE. Based on deviation from population means, the lens power explained 55%, corneal power 23%, and AL 22% of total myopia. ...The refractive myopia in Cohen syndrome may result from dys …
Multiple linear regression identified AL and corneal power as independent predictors of SE. Based on deviation from population means, …
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
Siggs OM, Souzeau E, Craig JE. Siggs OM, et al. Ophthalmic Genet. 2019 Feb;40(1):12-16. doi: 10.1080/13816810.2018.1561904. Epub 2019 Jan 2. Ophthalmic Genet. 2019. PMID: 30600741
Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation or displacement of the lens, which in turn can cause transient or permanent loss of visual acuity. The purpose of this study was to identify the predicted substrates of aspartyl/asparaginy …
Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation or displacement of the lens, which in turn can cause tr …
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. Christensen AE, et al. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11. Invest Ophthalmol Vis Sci. 2010. PMID: 20702823
RESULTS: Ocular signs in affected persons were increased median corneal thickness and astigmatism, angle malformation with prominent iris processes, displacement of the pupil and lens, lens coloboma, spherophakia, loss of zonular threads, early cataract development, glauco …
RESULTS: Ocular signs in affected persons were increased median corneal thickness and astigmatism, angle malformation with prominent iris pr …
Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome).
Meire FM, Delleman WJ, Bleeker-Wagemakers EM. Meire FM, et al. Ophthalmic Paediatr Genet. 1991 Mar;12(1):1-9. doi: 10.3109/13816819109023078. Ophthalmic Paediatr Genet. 1991. PMID: 1881650
The ocular findings are: blue sclerae, megalocorneas, hypoplastic irides with complete translucency, miosis, spherophakia with or without lens dislocation and severe myopia. This study demonstrates that ophthalmological examination of children with congenital contractures …
The ocular findings are: blue sclerae, megalocorneas, hypoplastic irides with complete translucency, miosis, spherophakia with or wit …
Outcome of anterior-segment surgery in Rieger's anomaly.
Dietlein TS, Jacobi PC, Krieglstein GK. Dietlein TS, et al. Ger J Ophthalmol. 1996 Nov;5(6):439-42. Ger J Ophthalmol. 1996. PMID: 9479533
Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, cataract, spherophakia, retinal detachment, papillary drusen, strabismus, and amblyopia were found associated with Rieger's anomaly. ...Cyclodestructive interventions displayed a very limited …
Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, cataract, spherophakia, retinal detachment, papilla …