title: Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings.
abstract: OBJECTIVE
  To evaluate the correlation between surgical outcome after phototherapeutic keratectomy in patients with autosomal dominant transforming growth factor, beta-induced (TGFBI)-linked corneal dystrophies (CD) and molecular genetic findings regarding the TGFBI gene.
  
  
  METHODS
  Twelve patients were examined to investigate genotype by direct sequencing of the TGFBI gene. Twenty eyes of 12 patients were treated with phototherapeutic keratektomy (PTK) to remove superficial corneal opacifications and to decrease recurrent erosions. Surgical outcome, including visual improvement, recurrence of opacifications, postoperative complications, and additional therapeutic proceedings were reported and compared with the molecular genetic results.
  
  
  RESULTS
  Four different missense mutations were identified within the coding region of the TGFBI gene: Arg124Cys in one eye, Arg555Trp in nine eyes, Arg124His in four eyes and Gly623Arg in six eyes. In all eyes the PTK was successful without clinically significant recurrent opacifications after a mean follow-up time of 17.6 months (min 3 months, max 42 months). The best corrected visual acuity (BCVA) improved with an average increase of 3.1 lines (minimum 2 lines, maximum 5 lines). In one eye (Arg124Cys), we observed delayed wound healing and a delayed increase in BCVA, in two eyes we performed an Epilasik to correct remaining hyperopia, and in four eyes we fitted rigid gas-permeable tricurve contact lenses to correct the remaining irregular astigmatism.
  
  
  CONCLUSIONS
  The variable genotypes in patients with TGFBI-linked corneal dystrophies lead to significantly different results after surgical treatment. The Gly623Arg mutation seems to be an optimum genotype on which to perform PTK even in older patients. It is essential to determine the genotype in order to standardize the PTK treatment and to evaluate the success in TGFBI-linked corneal dystrophies.
authors.affiliation: Department of Ophthalmology, Martin-Luther University, Ernst-Grube-Strasse 40, 06097 Halle, Germany. claudia.gruenauer-kloevekorn@medizin.uni-halle.de
authors.forename: Claudia
authors.initials: C
authors.lastname: Gruenauer-Kloevekorn
authors.forename: Saskia
authors.initials: S
authors.lastname: Braeutigam
authors.forename: Ursula G
authors.initials: UG
authors.lastname: Froster
authors.forename: Gernot I W
authors.initials: GI
authors.lastname: Duncker
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000601:surgery*; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018903:Photorefractive Keratectomy; D011183:Postoperative Complications; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D016896:Treatment Outcome; D014792:Visual Acuity
chemical_list: D053773:Transforming Growth Factor beta1
references.citation: Nat Genet. 1994 Jan;6(1):47-51
references.pmid: 8136834
references.citation: Am J Ophthalmol. 1998 Apr;125(4):547-9
references.pmid: 9559741
references.citation: Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2973-9
references.pmid: 12824240
references.citation: Am J Ophthalmol. 1999 Jul;128(1):104-6
references.pmid: 10482106
references.citation: Ophthalmology. 1999 Aug;106(8):1490-7
references.pmid: 10442892
references.citation: Invest Ophthalmol Vis Sci. 2004 May;45(5):1382-8
references.pmid: 15111592
references.citation: Arch Ophthalmol. 1994 Jul;112(7):967-72
references.pmid: 8031278
references.citation: Hum Genet. 1998 Sep;103(3):286-9
references.pmid: 9799082
references.citation: Am J Pathol. 1998 Mar;152(3):743-8
references.pmid: 9502416
references.citation: J Refract Surg. 1996 Nov-Dec;12(7):795-800
references.pmid: 8970027
references.citation: Ophthalmology. 2004 Jun;111(6):1108-14
references.pmid: 15177960
references.citation: Eye (Lond). 2002 Mar;16(2):126-31
references.pmid: 11988810
references.citation: Arch Ophthalmol. 1999 Jan;117(1):67-75
references.pmid: 9930162
references.citation: Cornea. 2000 Nov;19(6):842-5
references.pmid: 11095060
references.citation: Invest Ophthalmol Vis Sci. 2005 Jan;46(1):121-5
references.pmid: 15623763
references.citation: J Hum Genet. 2001;46(8):431-5
references.pmid: 11501939
references.citation: Refract Corneal Surg. 1993 Mar-Apr;9(2 Suppl):S115-8
references.pmid: 8499359
references.citation: Ophthalmology. 2001 Apr;108(4):818-23
references.pmid: 11297504
references.citation: Nat Genet. 1997 Mar;15(3):247-51
references.pmid: 9054935
references.citation: J Refract Surg. 2005 Nov-Dec;21(6):727-31
references.pmid: 16329366
references.citation: Am J Ophthalmol. 2001 Aug;132(2):255-7
references.pmid: 11476689
references.citation: Acta Ophthalmol Scand. 2003 Feb;81(1):19-32
references.pmid: 12631015
references.citation: Br J Ophthalmol. 2003 Jul;87(7):839-42
references.pmid: 12812879
references.citation: Ophthalmology. 1999 May;106(5):964-70
references.pmid: 10328397
references.citation: Cornea. 2001 Jul;20(5):525-9
references.pmid: 11413411
references.citation: Cornea. 2007 Dec;26(10):1182-3
references.pmid: 18043172
references.citation: Invest Ophthalmol Vis Sci. 1983 Aug;24(8):1015-28
references.pmid: 6874267
references.citation: Cornea. 2005 Apr;24(3):283-7
references.pmid: 15778599
references.citation: Invest Ophthalmol Vis Sci. 1999 Sep;40(10):2213-9
references.pmid: 10476785
references.citation: Ophthalmologe. 1999 Aug;96(8):489-93
references.pmid: 10509078
references.citation: Ophthalmology. 2002 Apr;109(4):793-7
references.pmid: 11927442
references.citation: Ophthalmic Res. 2005 Nov-Dec;37(6):310-7
references.pmid: 16118514
references.citation: Cornea. 2005 Jan;24(1):20-31
references.pmid: 15604863
references.citation: Cornea. 1992 Nov;11(6):573-6
references.pmid: 1468221
references.citation: Cornea. 2002 Aug;21(6):570-3
references.pmid: 12131032
references.citation: Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54
references.pmid: 11923233
references.citation: Am J Ophthalmol. 2000 Oct;130(4):516-7
references.pmid: 11024425
references.citation: Am J Hum Genet. 1998 Feb;62(2):320-4
references.pmid: 9463327
references.citation: Cornea. 1998 Sep;17(5):468-70
references.pmid: 9756439
references.citation: Histol Histopathol. 2008 Aug;23(8):945-52
references.pmid: 18498069
references.citation: Hum Mutat. 2006 Jun;27(6):553-7
references.pmid: 16652336
references.citation: Curr Opin Ophthalmol. 2003 Aug;14(4):186-91
references.pmid: 12888715
references.citation: Cornea. 1999 Mar;18(2):172-5
references.pmid: 10090362
references.citation: Ophthalmology. 2001 Apr;108(4):810-7
references.pmid: 11297503
references.citation: Klin Monbl Augenheilkd. 2005 Dec;222(12):1017-23
references.pmid: 16380889
references.citation: Am J Ophthalmol. 2006 Jul;142(1):173-4
references.pmid: 16815275