PMID: 3763153Aug 1, 1986Paper

Pathogenesis of cataracts in patients with Lowe's syndrome

Ophthalmology
R C TripathiB J Tripathi

Abstract

Based on our morphologic and ultrastructural studies, we suggest that the characteristic lens opacities in Lowe's syndrome result from a genetic defect in the lens cells. This defect manifests early in embryogenesis, and the progression of the lens opacities is related to both the inherent genetic abnormality and the prevailing extralenticular environment. The defective formation and subsequent degeneration of the primary posterior lens fibers account for their loss and for the flattened, discoid, or ring-shaped cataract. The other findings, such as anterior polar cataract, subcapsular fibrous plaque, capsular excrescences, bladder cells, and posterior lenticonus are not necessarily specific for Lowe's syndrome. We believe that the pathogenesis of Lowe's cataract can be explained by Lyon's hypothesis, which implies that, very early in embryogenesis (at the stage of the primitive streak), one of the two X chromosomes in females is deactivated. We consider the high incidence of lens opacities in female carriers to be due to this random deactivation. In male probands, however, all lens cells are affected, since there is no normal X chromosome to nullify the effect of the Lowe gene.

References

Feb 1, 1977·Klinische Wochenschrift·W EndresV Zahn
Aug 1, 1986·Ophthalmology·G W CibisD J Harris
Dec 1, 1974·American Journal of Ophthalmology·R L Font, S Brownstein

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Citations

Apr 1, 1997·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·S HayasakaS Yamamoto
Apr 11, 2003·Survey of Ophthalmology·Luis AmayaDora Lengyel
Jan 1, 1995·Eye·A J VivianD Taylor
Jan 11, 2000·Eye·L Cassidy, D Taylor
May 26, 2006·Orphanet Journal of Rare Diseases·Mario Loi
Dec 25, 2010·Journal of the American Society of Nephrology : JASN·Susan P BothwellRobert L Nussbaum
Sep 23, 2014·Survey of Ophthalmology·Frederick A JakobiecShizuo Mukai
May 5, 2005·Journal of Glaucoma·David S WaltonCharles U Lowe
Mar 3, 2012·European Journal of Pediatrics·Wai H ChanI Christopher Lloyd
Aug 13, 2011·Current Opinion in Ophthalmology·Anya A Trumler
Dec 6, 2006·Seminars in Cell & Developmental Biology·P Vasantha Rao, Rupalatha Maddala
Sep 19, 2012·American Journal of Medical Genetics. Part a·Damien LedererKoenraad Devriendt
Mar 25, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Arend Bökenkamp, Michael Ludwig
Jan 9, 2001·American Journal of Medical Genetics·A GropmanR Nussbaum
Jul 4, 2017·Nature Reviews. Nephrology·Maria Antonietta De MatteisOlivier Devuyst
Apr 29, 2020·European Journal of Ophthalmology·Xiaowan MaYang Sun
May 1, 1996·Survey of Ophthalmology·S R Lambert, A V Drack

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