Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings.
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.
Gruenauer-Kloevekorn
Claudia
C
Department of Ophthalmology, Martin-Luther University, Ernst-Grube-Strasse 40, 06097 Halle, Germany. claudia.gruenauer-kloevekorn@medizin.uni-halle.de
Braeutigam
Saskia
S
Froster
Ursula G
UG
Duncker
Gernot I W
GI
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
D053773:Transforming Growth Factor beta1
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