[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]. / Mutationen des frizzled-4-gens : ihre bedeutung in der betreuung von familien mit autosomal-dominanter exsudativer vitreoretinopathie.

PURPOSE: Autosomal dominant (familial) exudative vitreoretinopathy (adEVR) is a rare, congenital disease of the retinal vascular system, which may lead to blindness in severely affected eyes. One of the causative disease genes is located on chromosome 11q13-q23 and codes for "frizzled-4" (FZD4), a protein involved in vascular differentiation. METHOD: Examination of two families with adEVR over six and four generations and FZD4 mutation analysis. RESULTS: In family I, 18 examined affected members exhibited a heterozygous missense mutation (p.G492R) in the FZD4 gene. In family II, four examined family members were affected and carried a heterozygous deletion of five nucleotides (c.1286del5). Both mutations are novel and showed 100% penetrance and variable expressivity. CONCLUSIONS: With detection of the "family-specific" FZD4 gene mutation, carriers amongst offspring of affected family members can be identified at an early time. The complete penetrance of FZD4 mutations may justify abandoning repeated examinations of offspring of affected family members, if no mutations were detected in FZD4.

[Late needling with 5-fluorouracil when scarring of filtering bleb seems imminent]. / Late Needling mit 5-Fluorouracil bei drohender Sickerkissenvernarbung.

BACKGROUND: Evaluation of needling and 5-fluorouracil (5-FU) injections more than 4 months after preceding filtration surgery. PATIENTS AND METHOD: Retrospective analysis of 17 eyes in 14 patients who underwent needling of the filtering bleb and administration of 5-FU by injection at least 4 months after trabeculectomy (TE) with mitomycin C (MMC; same surgeon throughout). Complete success was defined as a reduction of intraocular pressure (IOP) by >30% from the baseline value without further medication and, in cases of primary open-angle glaucoma, IOP of 18 mmHg. The mean period of follow-up was 8.1 months (3-24 months). RESULTS: One to four needlings (Ø 1.6) with one to five injections (Ø 3.1) of 5-FU were performed as required according to clinical need an average of 31.3 months (4-108 m) after TE. The mean baseline IOP was 25 mmHg (+/-SD 6.02; median 25 mmHg). After needling and 5-FU injection the mean IOD at the last hospital visit was 13.64 mmHg (+/-SD 5.2, median 13 mmHg; p<0,001). Complete success was achieved in 82.4% of these cases. The mean reduction in IOP was 11.2 mmHg (0-22 mmHg). In the cases with successful outcome (14 of 17 eyes) the mean IOP reduction from baseline was 55%. Three eyes required further treatment. Complications encountered were hyphaema (2 cases), subconjunctival bleeding (1 case) and corneal erosion (3 cases). CONCLUSION: Late needling and injections of 5-FU can restore filtering bleb function even over 4 months after initial surgery. The high success rate and low incidence of complications together with the simple procedure justify regarding this approach as an alternative that can be used before passing on to more invasive interventions.

Peripheral hypertrophic subepithelial corneal degeneration presenting with bilateral nasal and temporal corneal changes.

PURPOSE: To characterise the history, clinical and histopathological features of patients with bilateral nasal and temporal peripheral hypertrophic subepithelial corneal degeneration in a German population. METHODS: A detailed ophthalmological and dermatological history and clinical findings were recorded of nine patients with bilateral simultaneous nasal and temporal peripheral corneal degeneration from two centers in Germany. Excised tissues were studied by histopathology, immunohistochemistry, and transmission electron microscopy. RESULTS: Foreign body sensation and need of artificial tear substitutes were the only symptoms reported regularly. Schirmer's and Jones-test were normal in all, but fluorescein break-up time of >10 s was found in five eyes of four patients. Best corrected visual acuity was reduced only under glare conditions. Corneal topography revealed irregular astigmatism in 13 of 14 eyes. Follow-up median time was 35 months. Most cases were stable within the follow-up period. Light and electron microscopy revealed the findings of superficial vascularised corneal hypertrophic scars, oxytatlan fibers, and discontinued Bowmans layer. CONCLUSION: In this series of German patients with peripheral hypertrophic subepithelial corneal degeneration, the changes were predominantly located in the palpebral aperture and often present in both eyes. No associated surface disease could be established in this study. Light and transmission electron microscopy showed histological features that are similar to Salzmann's corneal changes without any inflammation. We hypothesise that light exposure and a localised limbal insufficiency could be involved in the pathogenesis.

[Chorioretinal anastomosis as unfavourable prognostic factor during photodynamic therapy]. / Chorioretinale Anastomosen als ungünstiger Prognosefaktor bei photodynamischer Therapie.

BACKGROUND: The aim of this study was the documentation of chorioretinal anastomosis in neovascular age-related macular degeneration (AMD) and correlation with functional and angiographic results following photodynamic therapy (PDT). METHOD: A total of 100 patients presenting with neovascular AMD and indication for PDT based on the presence of predominantly classic choroidal neovascularization (CNV), underwent ophthalmoscopic and angiographic screening for chorioretinal anastomosis. Conventional PDT using verteporfin was performed according to the recommended standard procedure. The pre- and post-treatment status at 3 and 6 months post-PDT in all patients and at 1 week in selected patients was documented with respect to the central visual acuity test (ETDRS), ophthalmoscopy as well as fluorescein (FA) and indocyanine green angiography (ICGA). RESULTS: A primary chorioretinal anastomosis was found in 6% ( n=12) of all eyes with CNV and classic PDT indication. Mean visual loss within the first 6 months after therapy was 3 lines indicating lack of visual stabilization according to the PDT study criteria.Furthermore, an increase in visual acuity could not be documented in any case. Angiography demonstrated continuous progression of CNV size although PDT had been uneventful. The characteristic initial occlusion of the CNV with homogeneous hypofluorescence was absent angiographically at 1 week post-PDT. The anastomosis was detected by ICGA in all eyes and by ophthalmoscopy or optical coherence tomography (OCT) in most eyes. DISCUSSION: Chorioretinal anastomosis is not a rare finding associated with predominantly classic CNV. The presence of anastomosis appears to be an unfavourable prognostic factor during PDT. If a chorioretinal shunt is suspected evaluation by ICGA and/or OCT should be performed and the indication for PDT should be rediscussed.

[40 years of incomplete silicone oil tamponade after retinal detachment surgery]. / 40 Jahre inkomplette Silikonöltamponade nach Ablatiochirurgie.

INTRODUCTION: Since the early 1970 s, silicone oil injection was used for the treatment of complicated retinal detachments. Especially in this early period, the possible complications of silicone oil tamponade were difficult to assess. Today, we strive to reduce the duration of silicone oil tamponade - aiming at a removal within 3 - 6 months. A permanent tamponade is reserved for special situations. PATIENT AND METHOD: We report on a 53-year-old male patient, who underwent retinal surgery and was followed-up for 40 years. RESULTS: After a blunt trauma at the age of 13 the patient developed a macula-off retinal detachment. An encircling procedure (Arruga suture) with combined incomplete silicone oil injection was performed. Best corrected visual acuity (BCVA) preoperatively was 20 / 60 and 20 / 100 was attained postoperatively. As a complication of silicone oil tamponade a localised cataract formation was observed. At the last visit BCVA was 20 / 200. No other silicone oil-related complications were noticed. CONCLUSION: Long-term silicone oil tamponade over a considerable period of 40 years was well tolerated without significant complications. The incomplete silicone oil filling of the vitreous cavity may be responsible for the lack of serious side effects and segmental cataract.