PubMed

Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.

Urquhart JE, Biswas S, Black GC, Munier FL, Sutphin J.

Br J Ophthalmol. 2006 Nov;90(11):1430-1. No abstract available. PMID: 17057173 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC.

Hum Mol Genet. 2001 Oct 1;10(21):2415-23.PMID: 11689488 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.

Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A.

Jpn J Ophthalmol. 2004 May-Jun;48(3):195-8.PMID: 15175909 [PubMed - indexed for MEDLINE]Related articles

[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]

Clausen I, Weidle E, Duncker G, Grünauer-Kloevekorn C.

Klin Monbl Augenheilkd. 2009 Jun;226(6):466-9. Epub 2009 Jun 8. German. PMID: 19507099 [PubMed - indexed for MEDLINE]Related articles

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ.

Br J Ophthalmol. 2007 Dec;91(12):1717-8. No abstract available. PMID: 18024822 [PubMed - indexed for MEDLINE]Related articles

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3787-90.PMID: 16936088 [PubMed - indexed for MEDLINE]Related articlesFree article

Hereditary Fuchs' dystrophy.

Sidrys LA.

Am J Ophthalmol. 1981 Feb;91(2):277-8. No abstract available. PMID: 6970524 [PubMed - indexed for MEDLINE]Related articles

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.

Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, Stark WJ, Vito EC, Narang AK, Thompson JM, Magovern M.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1934-9.PMID: 15914606 [PubMed - indexed for MEDLINE]Related articlesFree article

Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.

Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4504-11.PMID: 16303941 [PubMed - indexed for MEDLINE]Related articlesFree article

Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.

Zhang C, Bell WR, Sundin OH, De La Cruz Z, Stark WJ, Green WR, Gottsch JD.

Trans Am Ophthalmol Soc. 2006;104:85-97.PMID: 17471329 [PubMed - indexed for MEDLINE]Related articlesFree article

Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family.

Lipman RM, Rubenstein JB, Torczynski E.

Arch Ophthalmol. 1990 Jul;108(7):993-4.PMID: 2369360 [PubMed - indexed for MEDLINE]Related articles

Hereditary Fuchs' Dystrophy.

Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE.

Am J Ophthalmol. 1980 Oct;90(4):455-62.PMID: 6968504 [PubMed - indexed for MEDLINE]Related articles

[Fuchs' gyrate atrophy and ornithine aminotransferase deficiency]

Orssaud C, Dufier JL, Rozenbaum J, Manderieux N, Debauchez J, Bonnefont JP, Saudubray JM.

Bull Soc Ophtalmol Fr. 1988 Jun-Jul;88(6-7):773-5. French. No abstract available. PMID: 3266478 [PubMed - indexed for MEDLINE]Related articles

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T.

Hum Mol Genet. 2008 Mar 1;17(5):656-66. Epub 2007 Nov 16.PMID: 18024964 [PubMed - indexed for MEDLINE]Related articlesFree article

Inheritance of Fuchs' combined dystrophy.

Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC.

Ophthalmology. 1979 Oct;86(10):1897-923.PMID: 399801 [PubMed - indexed for MEDLINE]Related articles

Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy.

Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, Law RW, Chong WG, Pang CP, Aung T.

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):184-8.PMID: 18172091 [PubMed - indexed for MEDLINE]Related articlesFree article

VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM.

Hum Mol Genet. 2002 May 1;11(9):1029-36.PMID: 11978762 [PubMed - indexed for MEDLINE]Related articlesFree article

[Review on corneal dystrophies]

Dighiero P, Ellies P, Grateau G, D'Hermies F, Pouliquen Y, Legeais JM, Renard G.

J Fr Ophtalmol. 1999 Mar;22(2):226-33. Review. French. No abstract available. PMID: 10327356 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.

Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.PMID: 16767101 [PubMed - indexed for MEDLINE]Related articles

Corneal endothelial dystrophy. A study of 64 families.

Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD.

Arch Ophthalmol. 1978 Nov;96(11):2036-9.PMID: 309758 [PubMed - indexed for MEDLINE]Related articles