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Hintergrund: Incontinentia pigmenti (Bloch-Sulzberger-Syndrom) ist eine seltene X-chromosomal dominante Multiorganerkrankung mit häufiger okulärer Beteiligung. Hautveränderungen fallen meist zuerst auf, eine Biopsie kann diagnostisch wegweisend sein, eine molekulargenetische Analyse ist[for full text, please go to the a.m. URL], 22. Jahrestagung der Retinologischen Gesellschaft

PURPOSE: To report two cases of choroidal metastasis in metastatic breast cancer in men. METHOD: Case reports of a 50-year-old man with an 8-year history of breast cancer who was initially examined with a solitary amelanotic choroidal tumor and a 62-year-old man with an 8-month history of breast cancer who was initially examined with numerous unilateral amelanotic choroidal tumors. RESULTS: Ophthalmoscopic and echographic characteristics of the choroidal tumors were typical for breast cancer metastasis. Systemic screening disclosed advanced metastastic disease in both patients. Choroidal metastasis could be effectively treated by external beam irradiation. CONCLUSIONS: Although breast cancer is a rare condition in men, it should be considered as a possible primary cancer in cases of choroidal metastasis.

Relapsing ocular involvement is one of the major manifestations in Adamantiades-Behçet's disease (ABD). Combining systemic corticosteroids with cyclosporin A is currently the treatment of choice. Interferon-alpha (IFN-alpha) has proven to be effective in mucocutaneous ABD and has been reported to improve ocular lesions. We examined the longterm effects of IFN-alpha-2a in a case series of 45 patients with ocular involvement.Since 1988, 45 patients (79 eyes of 90 eyes) with ocular involvement in ABD have been treated with IFN-alpha (3 x 6-9 Mio IU per wk). In the initial acute phase of the disease, patients additionally received short-term corticosteroids (oral prednisolone 100 mg/day), tapered to a maintenance dose of 10 mg/day within 2 weeks. IFN-alpha-2a was administered as longterm therapy with a mean duration of 30 months (range 1.1-101 mo).IFN-alpha-2a/prednisolone treatment was effective against vasculitis, optic nerve neuropathy, and iritis. Sixty-four eyes had no recurrence under therapy. To date, recurrences have been seen in 26 eyes under IFN-alpha treatment. Flu-like symptoms were recorded in nearly all patients (n = 43). Further side effects were dose-dependent reversible thrombocytopenia (n = 1), psychosis (n = 3), depression (n = 13), thyroiditis (n = 1), and reversible diffuse alopecia (n = 7). In our series, 92% of all eyes showed stable or improved visual acuity in longterm followup.Longterm remission of ocular inflammation can be achieved with the combination of IFN-alpha and low-dose corticosteroids.

Purpose To determine the incidence of and risk factors for rhegmatogenous retinal detachment (RD) in highly myopic eyes after cataract surgery. Setting Two ophthalmology centers in Munich and Ahaus, Germany. Methods This retrospective medical chart review comprised 1519 consecutive patients (2356 eyes) with an axial length (AL) greater than 27.0 mm who had planned phacoemulsification and intraocular lens implantation in the capsular bag. In addition, all patients and/or the referring ophthalmologist were contacted regarding the occurrence of RD and laser capsulotomy and the date of occurrence. Results Follow-up was longer than 24 months in 84% of eyes. Because some cases of RD were questionably related to the preceding cataract surgery, the absolute incidence of postoperative RD was determined as highest (2.2%) and lowest (1.5%). Sex, history of laser capsulotomy, and increasing AL had no statistically significant effect on the rate of RD. The risk for postoperative RD was significantly higher in eyes of younger patients and eyes with preoperative prophylactic treatment for retinal degeneration. Conclusions The risk for postoperative RD in this study (1.5% to 2.2%) corresponds to the incidence of pseudophakic RD and idiopathic RD in myopia described in the literature. The risk profile for postoperative RD in this series cannot be distinguished from the risk profile for idiopathic RD in myopia of this extent. The true effect of prophylactic treatment of degenerative lesions remains to be elucidated.

In spite of advances in surgical technique and the development of purified silicone oils, secondary glaucoma still develops in 10-20% of cases following silicone oil surgery. In the first part of this study it is shown by life-table analysis that factors such as early lens removal, inferior iridectomy, early silicone removal or the use of purified silicone oil have little or no influence on the development of glaucoma. In the second part an attempt is made to pinpoint possible causes of secondary glaucoma by re-examining all cases in which elevated intraocular pressure developed some time after silicone oil surgery. It was found that a multitude of factors (e.g., inflammation, angle-block, anterior peripheral synechiae and emulsification) were involved in the pathogenesis of temporary or persistent secondary glaucomas. In most cases pre-existing pathology was found to be responsible rather than the silicone oil itself. The majority of the cases in which the silicone oil caused secondary glaucoma by emulsification responded well to medication alone or removal of the silicone oil.

The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

Epidemiological studies demonstrate a prevalence of Adamantiades-Behcet’s disease (ABD) in the range of 0.12–420 per 100,000 inhabitants, with the highest rates in Istanbul, Turkey, and the lowest rates in the USA. Ophthalmological data on the prevalence of ocular involvement are limited for ABD in Germany, because most epidemiological studies are based on rheumatological or dermatological data. Berlin is the city with the highest number of non-native German inhabitants, and its multi-ethnic character renders it uniquely appropriate for epidemiological studies on ABD. We retrospectively analyzed all ABD patients seen in our department since 1982. All patients fulfilled the criteria of the International Study Group for Behcet’s Disease. We found 140 patients (63 female, 77 male), with a mean follow-up of 6.4 years (0.5–22 years). The mean age was 23 at the first manifestation and 32 when the full-blown disease was noted. The mean age at onset of ocular involvement was 30. Most of the patients were of Turkish (n = 73) or German (n = 34) origin. Fifty-six percent developed ocular involvement, which was the first manifestation in 8.6% and the second manifestation in 19.3% of cases. More than half the patients developed ocular involvement. The calculated prevalence of ocular involvement in ABD is 1.77/100,000 inhabitants for the municipality of Berlin.

To determine the clinical incidence and characteristics of symptomatic choroidal metastasis (CM) in breast cancer.Forty-six consecutive patients with CM from breast cancer were retrospectively reviewed in respect of ocular findings, medical history and systemic disease. Clinical incidence of CM was determined and compared with the incidence predicted from prevalence data obtained in ocular screening studies.Choroidal metastasis occurred with a median interval of 42.4 months after diagnosis of breast cancer and was predominantly unilateral (63% patients) and solitary (57% affected eyes). A total of 32% of patients had no history of metastatic tumour disease, but systemic screening with CT and scintigraphy revealed metastatic disease in 100% of patients. A median number of three other organs were affected by metastasis. Median survival from diagnosis of CM was 13.1 months. The mean number of local patients diagnosed with CM was 2.9 per year, which was one order of magnitude less than predicted from clinical screening studies.Choroidal metastasis occurs in advanced metastatic breast cancer, indicating a grave vital prognosis. In a minority of patients (32%) it is the first sign of metastatic disease. The clinical incidence of CM is far smaller than predicted from prevalence data obtained from ocular screening studies.

The aim of this study was to evaluate patients with solitary juxtapapillary capillary retinal angioma for the presence of von Hippel-Lindau disease (VHL).A retrospective case series of 11 patients, each presenting with a solitary juxtapapillary capillary retinal angioma, was examined. Patients were evaluated for type of angioma, presence of other VHL lesions, and mutations of the VHL gene.Juxtapapillary angioma was exophytic in 7 patients and endophytic in 4 patients. VHL could be diagnosed in 7 patients (64%). Four patients were affected by VHL-related lesions as distinct from ocular angioma. A mutation of the VHL gene could be detected in 6 patients; in 1 of these patients, this mutation of the VHL gene was the only evidence of VHL. There was no difference in the age at manifestation or the type of juxtapapillary angioma in VHL patients compared with non-VHL patients.A solitary juxtapapillary angioma may indicate the presence of VHL in a majority of patients, irrespective of the growth pattern of the tumour. Molecular genetic diagnostics is the most effective method of detecting VHL. Because of the high risk of the presence of other VHL lesions, thorough screening for VHL is mandatory for patients presenting with a solitary juxtapapillary angioma.

This study was undertaken to identify and compare the prognostic value of gene expression, chromosomal, and clinico-pathological data for the prediction of subsequent metastases in patients with primary uveal melanoma.For comparison of different sets of predictor variables diagonal linear discriminant analysis was used. Chromosomal events were assessed by comparative genomic hybridization and gene expression profiling by microarray. Twenty-eight patients with a median follow-up of 68 months were analyzed, of whom 12 had developed subsequent metastases.Diagonal linear discriminant analysis with crossvalidation of gene expression data detected 42 genes as differentially expressed in metastasizing vsnon-metastasizing uveal melanomas in all 28 cases. Comparing quantitative scores of discriminant analysis, grouping precision was significant better with gene expression profiling compared to comparative genomic hybridization (P=0.01) and to clinical data (P=0.001). Two published gene lists associated with monosomy 3 and metastatic tumor growth were used as classifier for discriminant analysis and yielded superior classification in patients with and without subsequent metastases than chromosomal or clinico-pathological data.In our patient cohort gene expression profiling of primary uveal melanoma tissue was superior to clinical-pathological and chromosomal analysis to assess for the risk of subsequent metastases.

AIM—To determine the frequency of visually asymptomatic choroidal metastasis in patients with disseminated breast cancer and its dependence on the incidence of metastasis by number and site of other organ metastases. METHODS—From January 1995 until April 1997 120 patients irradiated for disseminated breast cancer underwent ophthalmological screening for choroidal metastasis. No patient was symptomatic for ocular disease. 68 out of 120 patients were found to have metastases in one organ and 52 patients had metastases in more than one organ. 80% of the patients had bone metastases, 25% lung metastases, 22% liver metastases, 15% brain metastases, and 22% had metastases in other organs. RESULTS—Six patients (5%) were found to have asymptomatic choroidal metastases. Five patients had unilateral and one patient bilateral metastases. 52 patients with more than one involved organ had a significantly higher risk for asymptomatic choroidal metastasis (6/52, 11%) than 68 patients with metastases in only one organ (0/68) (p=0.006). In univariate analysis a significantly higher risk was seen for patients with lung metastases (14% choroidal metastases versus 2% in patients without lung metastases, p=0.03) and for patients with brain metastases (17% choroidal metastases versus 3% in those without brain metastases, p=0.04). CONCLUSION—In disseminated breast cancer the incidence of asymptomatic choroidal metastases was 5% and increased to 11% when more than one organ was involved in metastatic spread. Risk factors for choroidal metastases were dissemination of disease in more than one organ and the presence of lung and brain metastases. Keywords: choroidal metastasis; breast cancer; screening programme

To compare scleral buckling surgery (SB) and primary pars plana vitrectomy (PPV) in rhegmatogenous retinal detachments of medium complexity.Prospective randomized multicenter clinical trial (the Scleral Buckling versus Primary Vitrectomy in Rhegmatogenous Retinal Detachment Study), separated into phakic or aphakic/pseudophakic eyes. Patients were enrolled over a 5-year period. There was 1-year follow up in the study, and the primary outcome was assessed at 1 year.Forty-five surgeons (25 centers, 5 European countries) recruited 416 phakic and 265 pseudophakic patients. Completion of follow-up was achieved in 93% of the phakic and 89% of the pseudophakic patients.Scleral buckling surgery with the potential use of multiple sponges, encircling elements, drainage, and intraocular injections. Primary vitrectomy included 3-port vitrectomy with sulfur hexafluoride-air tamponade; additional SB was left to the surgeon's decision.Primary study end point: change in best-corrected visual acuity (BCVA); secondary end points: primary and final anatomical success, proliferative vitreoretinopathy, cataract progression, and number of reoperations.In the phakic trial, the mean BCVA change was significantly (P = 0.0005) greater in the SB group (SB, -0.71 logarithm of the minimum angle of resolution [logMAR], standard deviation [SD] 0.68; PPV, -0.56 logMAR, SD 0.76). In the pseudophakic trial, changes in BCVA showed a nonsignificant difference of 0.09 logMAR. In phakic patients, cataract progression was greater in the PPV group (P0.00005). In the pseudophakic group, the primary anatomical success rate (defined as retinal reattachment without any secondary retina-affecting surgery; SB, 71/133 [53.4%]; PPV, 95/132 [72.0%]) was significantly better (P = 0.0020), and the mean number of retina-affecting secondary surgeries (SB, 0.77, SD 1.08; PPV, 0.43, SD 0.85) was lower (P = 0.0032) in the PPV group. Redetachment rates were 26.3% (SB; 55/209) and 25.1% (PPV; 52/207) in the phakic trial and 39.8% (SB; 53/133) and 20.4% (PPV; 27/132) in the pseudophakic trial.The study shows a benefit of SB in phakic eyes with respect to BCVA improvement. No difference in BCVA was demonstrated in the pseudophakic trial; based on a better anatomical outcome, we recommend PPV in these patients.

X-linked congenital retinoschisis (RS) is a relatively frequent retinal dystrophy associated with RS1 gene mutations. A negative electroretinogram (ERG), i.e., a b/a wave ratio1.0 in the standard combined response, is considered a key diagnostic feature of RS. Only a few cases without a negative ERG have been reported.This study includes 24 RS patients with RS1 mutations. ERGs (according to ISCEV standards, n = 23), ON-OFF-responses (n = 9), fundus autofluorescence (FAF, n = 8), and optical coherence tomography (OCT, n = 6) were performed.The mean age at examination was 22.6 years (0.5-53.2 years), and median visual acuity was 0.3 (no light perception to 0.6). A negative ERG was found in 13 of 23 patients (56.5%), of whom one patient presented a negative ERG at the 2-year follow-up, with an initial b/a wave ratio1.0. Another patient had a b/a wave ratio of 0.96 in one eye and 1.02 in the fellow eye. In 10 of 23 patients, the b/a wave ratio ranged from 1.03 to 1.34. Single-flash cone and 30 Hz flicker responses were always reduced. FAF and OCT were pathologic in all patients tested. FAF was increased in the fovea. OCT revealed foveal schisis to various degrees and thinning of the retina in an older patient.Although ERG abnormalities were detected in all patients tested, more than 40% of patients with RS1 mutations did not have a negative ERG. In clinically suspected RS a combination of ERG, FAF, OCT, and molecular-genetic testing is advised to verify the diagnosis.

Adamantiades-Behcet’s disease (ABD) is a multi-system disorder with recurrent oral and/or genital ulcerations, skin lesions and ocular involvement. Eye involvement is a common manifestation that affects the patients’ quality of life more than any other. Left untreated, it leads to blindness and often to loss of the eye through secondary complications like phthisis or painful glaucoma. In some cases, such as tractional retinal detachment, secondary glaucoma or secondary cataract formation, intraocular surgery is required. A prospective study of patients with ocular ABD who underwent intraocular surgery under systemic treatment with interferon-alpha was conducted. From 1999 to 2005, we treated eight eyes from five patients with pars plana vitrectomy (n = 1), phacoemulsification (n = 6) and trabeculectomy (n = 1). The mean follow-up was 49 months (range 5–94 months). Seven out of eight eyes had better visual acuity following surgery. One eye did not benefit from cataract surgery because of optic nerve atrophy. Only one eye showed prolonged inflammation following phacoemulsification. None of the patients showed a recurrence during follow-up. The failure of conservative glaucoma treatment necessitated trabeculectomy in one eye; the patient has had no further recurrence for 6 years under monotherapy with interferon-alpha. Interferon-alpha is a potent therapy for Adamantiades-Behcet’s disease with ocular involvement. It also provides a basis for safe and reliable surgical interventions. In seven of eight eyes, there was no intra- or peri-operative recurrence of inflammation, which is a common complication after these procedures. Only one eye showed acute and prolonged inflammation following cataract surgery.

Hintergrund: Ein 4-jahriges Madchen wurde uns mit einem Visus von sc=0,2–0,3 sowie unklarem zentralen pigmentierten Fundusbefund am linken Auge vorgestellt. Es bestand eine pigmentierte maculare Traktionsmembran. Ein halbes Jahr zuvor bestand ein normaler Fundusbefund. Das rechte Auge zeigte keine Pathologie. Methoden: Wir fuhrten bei der klinischen Differentialdiagnose eines Tumors und eines pigmentierten Puckers eine Vitrektomie mit Biopsie des Befundes zur histologischen Diagnosesicherung durch. Ergebnisse: Die histologische Untersuchung ergab ein epiretinales Hamartom des retinalen Pigmentepithels ohne Anzeichen fur Malignitat. Postoperativ zeigte sich ein unauffalliger Fundus, im OCT eine nahezu normale Makulastruktur, der Visus stieg bei der letzten Vorstellung auf sc=0,6p an und es bestand wieder Stereosehen. Schlussfolgerungen: Aufgrund des klinisch unklaren Befundes sowie der Visusminderung war ein netzhautchirurgischer Eingriff zur Diagnosesicherung und Therapie notwendig.

Hintergrund: Die Grubenpapille ist eine ovale oder runde grauliche Einsenkung im Papillengewebe ohne Beeintrachtigung des Papillenrandes. Komplikationen, die in ca. 50% der Falle auftreten, sind das Makulaodem, das Makulaforamen, die epiretinale Gliose und die exsudative zentrale Ablatio. Patienten und Methoden: Wir untersuchten 11 Patienten (11 Augen) mit Grubenpapille, die zwischen 1996 und 2006 in unserer Klinik vitrektomiert worden sind. Ergebnisse: Bei 5 von 11 Augen wurde die Vitrektomie wegen einer zentralen Ablatio durchgefuhrt. 3 Augen mussten wegen eines Makulaforamens, 1 Auge wegen eines M. Pucker und 2 Augen wegen einer rhegmatogenen Ablatio retinae operiert werden. 6 Augen (55%) mussten wegen erneuter Ablatio oder Ausbildung eines Makulaforamens erneut operiert werden. Der Visus konnte in 9 von 11 Fallen durch die Operation stabil gehalten oder verbessert werden. In 2 von 9 Fallen zeigte sich postoperativ ein deutlich schlechterer Visus (mehr als 3 Zeilen). Schlussfolgerung: Die Vitrektomie bei Patienten mit Grubenpapille wird diskutiert. Die Rezidivrate mit 55% ist relativ hoch. Eine Visusstabilisierung ist jedoch in den meisten Fallen moglich.