[Implantation of multifocal add-on IOLs simultaneously with cataract surgery: results of a prospective study]. / Implantation multifokaler Add-on-Intraokularlinsen simultan mit Katarakt-Operation: Ergebnisse einer prospektiven Studie.

BACKGROUND: A prospective study was carried out to evaluate postoperative visual acuity and patients satisfaction after implantation of a multifocal add-on IOL. PATIENTS AND METHODS: In 50 eyes of 25 patients operated by two surgeons "group A (MK) = 15 patients; group B (MWR) = 10 patients" with age-related cataract after "normal" cataract surgery, sulcus-fixated multifocal add-on IOLs (MS 714 PB Diff., Dr. Schmidt Intraocularlinsen, Sankt Augustin) were implanted. 12 weeks after surgery in both groups the following parameters were evaluated: far visual acuity; intermediate visual acuity (1 meter) and near visual acuity (33 centimeter). In addition, the patients satisfaction was measured in three steps (1 = excellent; 2 = satisfied; 3 = not satisfied) ermittelt. In group A also contrast sensitivity was measured using the Ginsberg box. RESULTS: Surgery was performed in all cases without complications. No postoperative complications were observed. After 12 weeks the results in both groups were comparable. Median distance visual acuity was 0.05 +/- 0.02 (LogMar) uncorrected and 0 +/- 0.05 (LogMar) with correction. Intermediate visual acuity was 0.25 +/- 0.06 (LogMar) uncorrected (0.1 +/- 0.09 (LogMar) with correction. Near visual acuity was 0.2 +/- 0.07 (LogMar) and 0.15 +/- 0.02 (LogMar), respectively. Patients satisfaction was 80 - 90%. CONCLUSIONS: Sulcus-fixated add-on IOLs are a useful addition to our refractive surgical armamentarium. The present results encourage us to use this method as a standard procedure.

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

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.

[Correction of aphakia with retroiridally fixated IOL]. / Ergebnisse der Aphakiekorrektur durch retroiridal fixierte Kunstlinse.

BACKGROUND: We report the results of the secondary implantation of retroiridally fixated irisclaw-lenses (Artisan(R)) to correct aphakia. PATIENTS AND METHODS: This retrospective study included all eyes that had undergone outpatient implantation of an Artisan IOL by the senior author (MK) between July 2004 and January 2008. We analysed 48 eyes of 46 patients (27 female, 19 male) aged 17 to 87 years. Underlying conditions were: aphakia after congenital cataract or trauma (19 eyes), late luxation of a posterior chamber IOL (16 eyes), intraoperative zonulolysis during cataract surgery that did not allow PC IOL implantation (12 eyes, including 10 eyes with pseudoexfoliation and one eye with Marfan syndrome), anterior chamber IOL with corneal decompensation problems and recurrent hyphema (1 eye). Simultaneous surgical procedures included: anterior vitrectomy (48 eyes), pars plana vitrectomy (14 eyes), removal of PC IOL (16 eyes), removal of AC IOL (1 eye), and penetrating keratoplasty (1 eye). Mean follow-up was 14.3 months (range: 1 - 31 months). IOL power was calculated using the SRKT formula and an A constant of 116.7. RESULTS: Surgery was uneventful in all cases with safe enclavation of both IOL haptics. Mean postoperative refraction was 0 dpt. (range: -0.75 to + 1.0 dpt.), median postoperative visual acuity in Log-Mar was 0.2; compared to preoperative visual acuity (median 0.4 Log-Mar); all patients improved. Pre- and postoperative intraocular pressures were in the normal range in all eyes. Complications were few: one eye without patent iridotomy developed pupillary block glaucoma one day following surgery and was successfully treated by Nd:YAG iridotomy. One patient following blunt ocular trauma developed a retinal detachment with PVR 10 months following implantation of the Artisan IOL that was repaired uneventfully by pars plana vitrectomy with silicone oil instillation. In this case, the Artisan IOL was left in place. In two eyes, secondary trauma resulted in dislocation of one haptic of the Artisan IOL. In both of these cases, refixation of the Artisan IOL was easily performed by enclavation of the iris claw. In two patients cystoid macula oedema was observed. CONCLUSIONS: With correct indications the implantation of a retroiridally fixated IOL (Artisan) is a safe and predictable method to correct aphakia and has become our method of choice instead of anterior chamber IOLs and sclera fixated IOLs.

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. / Molekulargenetische und histopathologische Untersuchungen zur Genotyp-Phänotyp-Analyse bei Patienten mit TGFBI-gekoppelten Hornhautdystrophien.

PURPOSE: Different missense mutations in the TGFBI gene cause granular (Groenouw CDGG1, Avellino CDA, Reis-Bücklers CDB1) and lattice (Type I; Biber-Haab-Dimmer; CDL1) corneal dystrophies and, in some reports, corneal dystrophy Thiel-Behnke (CDB2). We report on the mutation spectrum and the genotype-phenotype correlations on the basis of clinical and histopathological examinations of 13 German families with TGFBI-linked corneal dystrophies. METHODS: In 31 patients with different corneal dystrophies, DNA was extracted from leukocytes of the peripheral blood and mutation analysis was performed by direct sequencing of the TGFBI gene. Clinical and histopathological findings were compared with the molecular genetic findings for genotype-phenotype correlations. RESULTS: In 6 patients (2 families/one single person) with clinical and histopathological CDL1 we found a Missense mutation Arg124Cys and in 7 patients (3 families/one single person) with clinical and histopathological CDA we found a Missense mutation Arg124His in the exon 4 of the TGFBI gene. In 12 patients (4 families/2 single persons) with clinical and histopathological CDGG1 we found a Missense mutation Arg555Trypt in the codon 12 of the TGFBI gene. In all five patients (1 family/4 single persons) with clinical and histopathological CDB2 we could not find any mutation in the TGFBI gene. In one patient with exceptional clinical and histopathological findings we found a Missense mutation Ala546Asp, which was reported before only twice in connection with polymorphous corneal amyloidosis. CONCLUSIONS: In comparison of our clinical and histopathological findings and the molecular genetic results we found a strong genotype-phenotype correlation in patients with TGFBI-linked corneal dystrophies. Rare mutations can lead to exceptional clinical and histopathological findings which cannot be classified into the different groups of corneal dystrophies. In our patients with CDB2 we could not find any molecular genetic correlation to the TGFBI gene.

[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. / Molekulargenetische Analyse des BIGH3-Gens bei gittriger Hornhautdystrophie Typ I (Biber-Haab-Dimmer) und bei bröckliger Hornhautdystrophie Typ II (Avellino): Erlauben Hot Spots einen indirekten Mutationsnachweis?

BACKGROUND: Mutations of the BIGH3 gene were delineated as the underlying gene defect for corneal dystrophy Lattice Type I (CDL1) and corneal dystrophy Avellino type (CDA) in families with different regional provenance. Missense mutations in exon 4 with single base pair substitution which result in amino acid alterations Arg124Cys (CDL1) and ARG124His are described as hot spots. We report on histopathological and molecular genetic investigations in 2 German families and a single patient with CDL1 and CDA. METHOD: In 3 affected family members and 1 unaffected family member and in one single patient with CDL1 and in 3 affected family members and 1 unaffected family member of a family with CDA mutation analysis in exon 4 of BIGH3 gene by direct sequencing of genomic DNA from peripheral blood was performed. Histopathological examination of corneal tissue of both index patients was performed after penetrating keratoplasty. RESULTS: We revealed a heterozygous single base pair substitution 417C-->T in family A and patient B (CDL1) and a heterozygous single base pair substitution 418G-->A in family C (CDA). In all index patient's diagnosis was confirmed by histopathological examination of corneal tissue. The sequencing results were confirmed by restriction digestion with HpyCH4V (NEB; CDL1) restriction endonuclease site and AvaII (NEB; CDA) restriction endonuclease site. The heterozygous 417C-->T transition in family A and patient B alters the amino acid sequence from Arg124Cys while the heterozygous 418G-->A transition in family C alters the amino acid sequence from Arg124His in the keratoepithelin. COMMENT: Codon 124 of the BIGH3 gene appears as a mutation hot spot also in German families with CDL1 and CDA. Indirect mutation analysis with restriction digestion is suggested as first step investigation in families with relevant corneal dystrophies. Direct sequencing of all exons is recommended as a second step if there are no results in restriction digestion.