RESUMO
BACKGROUND: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. METHODS: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequencing of the TGFBI gene. Clinical, histological and immunohistochemical characteristics of corneal opacification were reported and compared with the coding region changes in the TGFBI gene. RESULTS: A novel mutation Leu509Pro was detected in one family with a geographic pattern-like clinical phenotype. Histopathologically we found amyloid together with non-amyloid deposits and immunohistochemical staining of Keratoepithelin (KE) KE2 and KE15 antibodies. In two families and one sporadic case the novel mutation Gly623Arg with a late-onset, map-like corneal dystrophy was identified. Here amyloid and immunohistochemical staining of only KE2 antibodies occurred. Further, five already known mutations are reported: Arg124Cys Arg555Trp Arg124His His626Arg, Ala546Asp in 13 families and five sporadic cases of German origin. The underlying gene defect within the TBFBI gene was not identified in any of the four probands with Thiel-Behnke corneal dystrophy. CONCLUSIONS: The two novel mutations within the TGFBI gene add another two phenotypes with atypical immunohistochemical and histopathological features to those so far reported.
Assuntos
Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Predisposição Genética para Doença/genética , Mutação/genética , Fator de Crescimento Transformador beta/genética , Acuidade Visual/genética , Adulto , Fatores Etários , Distrofias Hereditárias da Córnea/patologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Adulto JovemRESUMO
AIM: To quantify corneal irregularities, to describe the fitting with contact lenses, and to answer the question whether or not contact lenses with a special back surface design could improve visual acuity in patients with pellucid marginal corneal degeneration (PMCD). METHODS: 13 eyes were fitted with contact lenses with a special back surface. Videokeratographic data were assessed. The patients were followed up for an average period of 22.2 months. Lens tolerance and corrected visual acuity were evaluated. RESULTS: The mean eccentricity did not exceed 0.7 in all patients. Either the superior or the inferior eccentricity, or both, were negative in all patients. Using Fourier analysis all PMCD subjects showed an increased irregular astigmatism of the anterior cornea. Using Zernike coefficients seven eyes (53.8%) had a higher order aberration root mean square error (HOA RMS error) out of the normal range. The visual acuity with contact lenses improved in all eyes with an average increase of 2.7 lines (maximum eight lines). No serious complications were observed. CONCLUSIONS: Quantitative evaluation of videokeratographic data may help to diagnose PMCD and to distinguish PMCD from other ectatic corneal diseases. Contact lenses with a special back surface design can improve visual acuity and lens tolerance.
Assuntos
Lentes de Contato , Doenças da Córnea/patologia , Adulto , Astigmatismo/etiologia , Astigmatismo/fisiopatologia , Astigmatismo/terapia , Doenças da Córnea/complicações , Doenças da Córnea/diagnóstico , Topografia da Córnea/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Ajuste de Prótese/métodos , Resultado do Tratamento , Acuidade VisualRESUMO
AIMS: To describe the fitting of patients with high or irregular astigmatism following penetrating keratoplasty with contact lenses and to answer the question whether or not contact lenses with special back surface design can improve visual acuity in complex cases after penetrating keratoplasty. METHODS: 28 eyes were included. They were fitted with contact lenses with a special back surface that was designed for optical rehabilitation after penetrating keratoplasty. Four different types of these lenses (tricurve, keratoconus, reverse, oblong) were used selectively depending on abnormal eccentricity determined by videokeratoscope. The patients were followed up for an average period of 15.5 months. Lens tolerance and corrected visual acuity were evaluated and compared with that corrected with spectacles. RESULTS: The visual acuity was significantly improved in nearly all eyes with an average increase of 3.6 lines (maximal nine lines) accompanied by good contact lens tolerance and satisfactory contact lens fit. No noticeable complications were observed. CONCLUSION: Contact lenses with special back surface design can improve visual results and lens tolerance, and minimise problems in contact lens fitting. This is in favour of contact lenses as an alternative to surgical procedures for correction of high or irregular astigmatism after penetrating keratoplasty. This procedure is recommended especially in cases of patients who decline further operative interventions.
