PMID: 11927442Apr 3, 2002Paper

Clinical outcome of eight BIGH3-linked corneal dystrophies

Ophthalmology
P ElliesP Dighiero

Abstract

To determine whether the mutational pattern of BIGH3-linked corneal dystrophies (CDs) can accurately predict the clinical course of the disease and be helpful in planning adequate surgical treatment. Retrospective noncomparative case series. Chart review of 73 patients (110 eyes) with recently confirmed BIGH3 mutations who underwent a penetrating keratoplasty (PK) from 1978 through 1999. Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes). The mutation of the BIGH3 gene was characterized for all patients. Clinical data were reviewed for each patient, and included age at first PK and elapsed time before significant recurrence (as defined by a severe decrease in best-corrected visual acuity related to recurrent deposits in the graft). Mean age at first PK and delay before a significant recurrence. Mutational pattern was highly correlated...Continue Reading

References

Oct 1, 1992·Ophthalmology·E J HollandD J Doughman
Mar 1, 1997·Nature Genetics·F L MunierD F Schorderet
Apr 29, 1998·American Journal of Human Genetics·S YamamotoY Tano
Aug 24, 1999·American Journal of Ophthalmology·M J MannisL Izquierdo
Dec 28, 1999·American Journal of Ophthalmology·G K Klintworth
Jan 6, 2000·Current Opinion in Ophthalmology·S K Gupta, W G Hodge
Oct 12, 2000·American Journal of Ophthalmology·Y MashimaS Kinoshita

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Citations

Mar 4, 2005·Human Genetics·Shigeo YoshidaTatsuro Ishibashi
Mar 25, 2004·Protein Expression and Purification·Ching YuanAndrew J W Huang
Mar 26, 2003·American Journal of Ophthalmology·Sayoko E MoroiJulia E Richards
Oct 24, 2002·European Journal of Biochemistry·Clair-Florent Schmitt-BernardAngel Argilés
Apr 8, 2009·Cornea·Jayne S WeissGordon K Klintworth
Sep 9, 2011·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Qingfeng LiangXiuying Jin
Mar 31, 2011·Ophthalmic Research·Preeti PaliwalArundhati Sharma
Oct 7, 2014·The Ocular Surface·R LakshminarayananJodhbir S Mehta
Nov 28, 2015·Progress in Retinal and Eye Research·Kyung Eun HanEung Kweon Kim
Dec 27, 2006·Journal of Cataract and Refractive Surgery·W Barry LeeHans E Grossniklaus
May 10, 2006·Human Mutation·Chitra Kannabiran, Gordon K Klintworth
Jun 28, 2011·The American Journal of Pathology·Tae-im KimEung Kweon Kim
Sep 13, 2012·American Journal of Ophthalmology·Osamu HiedaShigeru Kinoshita
Sep 9, 2008·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Claudia Gruenauer-KloevekornGernot I W Duncker
Jan 25, 2008·Seminars in Ophthalmology·Vasilliki Poulaki, Kathryn Colby
Jul 16, 2019·Survey of Ophthalmology·Ritu NagpalNamrata Sharma
Feb 1, 2020·Progress in Retinal and Eye Research·Nadia Sukusu NielsenJan J Enghild
Aug 24, 2021·Computers in Biology and Medicine·Mihir DeshmukhEung Kweon Kim

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