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Ocular features in Alport syndrome: pathogenesis and clinical significance.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Savige J, et al. Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Clin J Am Soc Nephrol. 2015. PMID: 25649157 Free PMC article. Review.
Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV alpha3alpha4alpha5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior l …
Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV alpha3alpha4alpha5 …
Optical coherence tomography angiography findings in patients with Alport syndrome.
Trancoso FG, Gallon L, Bomfim MLA, Silva AFMD, Cade F, Zanetti FR. Trancoso FG, et al. Arq Bras Oftalmol. 2020 Nov-Dec;83(6):473-477. doi: 10.5935/0004-2749.20200088. Arq Bras Oftalmol. 2020. PMID: 33470273 Free article.
Visual acuity in the worst eye was between 20/40 and 20/60. All male patients had anterior lenticonus on biomicroscopy. The observed retinal findings included dots and flecks and pigmentary changes in the macula. ...
Visual acuity in the worst eye was between 20/40 and 20/60. All male patients had anterior lenticonus on biomicroscopy. The ob …
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R. Gross O, et al. Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095. Nephrol Dial Transplant. 2017. PMID: 27190345 Free PMC article.
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the alpha3alpha4alpha5(IV) collagen heterotri …
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior …
Clear lens phacoemulsification in Alport syndrome: refractive results and electron microscopic analysis of the anterior lens capsule.
Bayar SA, Pinarci EY, Karabay G, Akman A, Oto S, Yilmaz G. Bayar SA, et al. Eur J Ophthalmol. 2014 May-Jun;24(3):345-51. doi: 10.5301/ejo.5000365. Epub 2013 Oct 16. Eur J Ophthalmol. 2014. PMID: 24170525
RESULTS: All patients had a history of hereditary nephritis and/or deafness as systemic involvement. Ophthalmologic examination revealed anterior lenticonus with high myopia and/or irregular astigmatism in all patients. ...CONCLUSIONS: Clear lens phacoemulsification …
RESULTS: All patients had a history of hereditary nephritis and/or deafness as systemic involvement. Ophthalmologic examination revealed …
Evaluation of anterior lenticonus in alport syndrome using tracey wavefront aberrometry and transmission electron microscopy.
Kim KS, Kim MS, Kim JM, Choi CY. Kim KS, et al. Ophthalmic Surg Lasers Imaging. 2010 May-Jun;41(3):330-6. doi: 10.3928/15428877-20100430-06. Ophthalmic Surg Lasers Imaging. 2010. PMID: 20507017
BACKGROUND AND OBJECTIVE: To evaluate the efficacy of Tracey wavefront aberrometry (Tracey Technologies, Houston, TX) and transmission electron microscopy for the detection of anterior lenticonus in Alport syndrome. PATIENTS AND METHODS: Tracey wavefront aberrometry …
BACKGROUND AND OBJECTIVE: To evaluate the efficacy of Tracey wavefront aberrometry (Tracey Technologies, Houston, TX) and transmission elect …
Ocular changes in some progressive hereditary nephropathies.
Dufier JL, Orssaud D, Dhermy P, Gubler MC, Gagnadoux MF, Kleinknecht C, Broyer M. Dufier JL, et al. Pediatr Nephrol. 1987 Jul;1(3):525-30. doi: 10.1007/BF00849264. Pediatr Nephrol. 1987. PMID: 3153327
In 28 instances of Alport's syndrome, two types of ocular abnormalities have been observed. In six cases, an anterior lenticonus was noted, which caused a major decline in visual acuity. ...
In 28 instances of Alport's syndrome, two types of ocular abnormalities have been observed. In six cases, an anterior lenticonus …
Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds.
Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN, Gupta A, Gupta KL. Chugh KS, et al. Nephrol Dial Transplant. 1993;8(8):690-5. doi: 10.1093/ndt/8.8.690. Nephrol Dial Transplant. 1993. PMID: 8414153
Pure tone audiometry revealed high-frequency sensorineural deafness in 96.8%. Ocular examination showed bilateral anterior lenticonus in 37.8%, retinal flecks in 22.2%, cataract in 20%, and keratoconus in 6.7% patients. ...
Pure tone audiometry revealed high-frequency sensorineural deafness in 96.8%. Ocular examination showed bilateral anterior lentico …
Anterior "lenticonus" in exfoliation syndrome.
Parmar P, Salman A. Parmar P, et al. Indian J Ophthalmol. 2005 Sep;53(3):193-4. doi: 10.4103/0301-4738.16679. Indian J Ophthalmol. 2005. PMID: 16137965 Free article.
An electrophysiological study on children and young adults with Alport's syndrome.
Jeffrey BG, Jacobs M, Sa G, Barratt TM, Taylor D, Kriss A. Jeffrey BG, et al. Br J Ophthalmol. 1994 Jan;78(1):44-8. doi: 10.1136/bjo.78.1.44. Br J Ophthalmol. 1994. PMID: 8110699 Free PMC article.
Ocular signs are variable, the most consistent findings being anterior lenticonus and retinal flecks in the macula and mid peripheral areas. ...
Ocular signs are variable, the most consistent findings being anterior lenticonus and retinal flecks in the macula and mid per …
Comparative study of actin filament patterns in lens epithelial cells. Are these determined by the mechanisms of lens accommodation?
Rafferty NS, Scholz DL. Rafferty NS, et al. Curr Eye Res. 1989 Jun;8(6):569-79. doi: 10.3109/02713688908995756. Curr Eye Res. 1989. PMID: 2743796
No specialized actin pattern was seen in turtle and bird, which have lenses that are squeezed into an anterior lenticonus; cat, where the lens is translated forward; or rat, cow and most mice, which have no defined accommodation. ...
No specialized actin pattern was seen in turtle and bird, which have lenses that are squeezed into an anterior lenticonus; cat …
11 results