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To describe clinical characteristics of Muller cell sheen dystrophy (MCSD) in two unrelated patients followed for 10 years. Best-corrected visual acuity (BCVA), kinetic perimetry, biomicroscopy, ophthalmoscopy, fundus photography, fluorescein angiography, fundus autofluorescence, near-infrared reflectance, optical coherence tomography (OCT), and electroretinography (ERG). Case 1: A 61-year-old woman showed internal limiting membrane (ILM) folds at the posterior pole (OU), and cystoid macular edema (CME) in OD. During follow-up, BCVA decreased from 0.2 to 0.06 (OD) and from 0.7 to hand movements (OS). Fundus presented fluctuant CME and subretinal fluid, and an increase in ILM folds and intraretinal schisis cavities. ERG was negative in OD and initially normal in OS. Case 2: A 60-year-old man was first diagnosed with epiretinal membrane before MCSD with ILM folds was detected. OCT showed schisis cavities in all retinal layers. After vitrectomy with ILM peeling in OD because of visual loss and massive CME, BCVA recovered from 0.05 to 0.4. BCVA in OS remained at 0.6. OD developed negative ERG. MCSD presents with late onset, ILM folds, intraretinal schisis cavities, and negative ERG. Visual loss is accompanied by CME and subretinal fluid. Vitrectomy with ILM peeling led to BCVA increase and anatomic improvement.

We report the clinical and genetic data obtained at a 17-year follow-up examination of a patient with gyrate atrophy, without an arginine-restricted diet. Patient examinations included visual acuity (VA), perimetry, biomicroscopy, funduscopy, fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (OCT), and standard full-field electroretinography (ERG). Blood samples were taken for measurement of serum ornithine level and molecular genetic analysis of the OAT gene. The female was 22 years of age when gyrate atrophy was diagnosed based on peripheral chorioretinal atrophy and an increased ornithine level. Reexamination after 17 years revealed a reduced VA (0.25 OU), dense cataract, extensive peripheral chorioretinal atrophy, a further increased ornithine level, but only slow progression of visual field constriction, and still detectable ERG amplitudes. FAF was absent in the atrophic periphery and almost homogeneous at the posterior pole except parafoveally. OCT showed interruption of the foveal inner/outer segment junction and parafoveal microcystoid spaces. After cataract surgery, VA increased to the same values as those found at the age of 22 years (0.5 OD, 0.6 OS). Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene. Although the patient had refused to diet during her first 39 years of life, the gyrate atrophy showed a very slow progression. FAF allows evaluating the integrity of the retinal pigment epithelium and may help to delimit gyrate atrophy from choroideremia. Interruption of foveal inner/outer segment junction and cystoid macula edema appears in gyrate atrophy.

Interferon (IFN) beta is commonly used in the treatment of multiple sclerosis. Thromboembolic complications may be associated with this therapy. We describe a case of branch arterial occlusions combined with central vein occlusion in a female patient who had undergone IFN beta therapy for 10 years. Thromboembolic and cardiovascular risk factors responsible for this event were excluded. The appearance of retinal vein and artery occlusions in our patient indicates an association with the long-term use of IFN beta.

Hornhauterkrankungen stellen einen wichtigen Bereich in der Kinderophthalmologie dar. Die Pathogenese der Keratoconjunctivitis sicca und der neurotrophen Keratopathie ist auch im Kindesalter komplex: Beide Entitaten konnen sowohl isoliert als auch im Rahmen von systemischen Erkrankungen auftreten. Die Diagnosestellung erfolgt bei Kindern aufgrund der teilweise erschwerten Untersuchbarkeit haufig verzogert. Bei nicht rechtzeitiger Behandlung kann es zu bleibenden Schaden und Amblyopie kommen. Literaturubersicht uber die Pathogenese der Keratoconjunctivitis sicca und neurotrophen Keratopathie im Kindesalter sowie klinische Beispiele aus der kinderophthalmologischen Sprechstunde und Ubersicht zur Therapie. Keratoconjunctivitis sicca und neurotrophe Keratopathie sind bei Kindern seltener als bei Erwachsen, zeigen aber ein sehr breites atiopathologisches Spektrum. Die Kenntnis der Differenzialdiagnosen und die Anwendung kindgerechter Untersuchungstechniken sowie in einigen Fallen eine interdisziplinare Zusammenarbeit sind wichtig fur die fruhzeitige Diagnosestellung und die Vermeidung von Komplikationen. Keratoconjunctivitis sicca und neurotrophe Keratopathie konnen bei Kindern leicht ubersehen werden, da ihr Vorkommen im Kindesalter teilweise unterschatzt wird und die Untersuchbarkeit bei Kindern haufig reduziert ist.

The retinal pigment epithelium (RPE) serves a variety of different functions and impairment of these functions can lead to a multitude of different diseases of the posterior segment of the eye. The RPE plays an important role as an ion and fluid pump for the reabsorption of subretinal fluid in retinal detachment. On the other hand, defects in this pump function and in the outer blood-retinal barrier formed by the RPE, lead to fluid retention in inflammatory diseases. Metaplasia of RPE cells to myofibroblasts can lead to proliferative vitreoretinopathy and tractive retinal detachment. Early age-related maculopathy is caused by disturbances of phagocytosis and metabolism of the RPE. Imbalance of the physiological equilibrium between vasoproliferative and vasoinhibitory factors secreted by the RPE is probably involved in the development of atrophic or neovascular forms of advanced age-related macular degeneration. Mutations in the different steps involved in regeneration of the visual pigment (visual cycle) may lead to retinal dystrophy. Finally, immunoregulatory properties of the RPE are responsible for the phenomenon of immunological privilege, which may facilitate clinical interventions such as gene therapy and RPE transplantation.

Tamoxifen wird in der adjuvanten Therapie bei der Behandlung des Mammakarzinoms eingesetzt. In seltenen Fallen konnen Sehstorungen unter Tamoxifen-Therapie beobachtet werden. Retrospektive Auswertung von klinischen und funktionellen (Visus, Gesichtsfeld, Farbensehen) Befunden bei einer Fallserie von 8 Patientinnen unter Tamoxifen-Therapie mit Einschluss einer elektrophysiologischen Untersuchung. Sieben der 8 Patientinnen gaben Sehstorungen an. Bei einer Patientin zeigten sich kristalline Ablagerungen in der Hornhaut und Makula. Drei Patientinnen wiesen Veranderungen im Ganzfeld- und multifokalen Elektroretinogramm auf, 2 Patientinnen zeigten lediglich ein pathologisches multifokales Elektroretinogramm. In 6 Fallen wurde ein desaturierter Panel-D-15-Farbsehtest durchgefuhrt, der bei 5 Patientinnen masige Verwechselungen offenbarte. Die Mehrzahl der sehbeeintrachtigten Tamoxifen-Patientinnen zeigte elektrophysiologische Veranderungen, insbesondere im multifokalen Elektroretinogramm, wobei sich ein morphologisches Korrelat haufig nicht sicher nachweisen lies. Bei unklaren Sehstorungen unter Tamoxifen-Einnahme empfiehlt sich daher eine elektrophysiologische Abklarung.

The purpose of this retrospective study was to determine the relevance of both visual-evoked potentials (VEP) and multifocal electroretinography (mfERG) to evaluate unexplained visual loss. Seventy-two consecutive patients (1996-2002) with visual disturbances of unknown origin underwent both VEP and mfERG (ISCEV standard). The mean age was 42.4 years (11.8-74.5) and median visual acuity 0.5 (no light perception - 1.0). Symptoms reported included visual acuity loss (n=69), visual field defects (n=11), disturbances of colour vision, light or dark adaptation (n=10). VEP and mfERG were normal in 43% (n=31). Both VEP and mfERG were pathological in 24% (n=17). In a further 18% (n=13) only the mfERG was pathological and in 15% (n=11) only the VEP was pathological. Macular dysfunction as detected with mfERG was present in 73% of 41 patients with at least one pathological test. Neuroimaging (MRI, CCT) and/or neurological examination was performed in 27/72 patients (38%), to account for unexplained visual loss, prior to the electrophysiological tests; these were normal in all patients. Electrophysiological tests revealed disturbances of the post-retinal visual pathway in only 3/27 patients. In 12/27 patients, mfERG revealed a macular disorder; in a further 12/27 patients VEP and mfERG were normal. The combined evaluation of VEP and mfERG is useful both to establish the area of dysfunction and the normality of the visual system. Electrophysiological testing prior to neuroimaging is recommended for patients where clear clinical signs of cerebral disorders are not evident. This reduces the frequency of unnecessary neuroimaging and associated radiation exposure.

A generally accepted classification for inherited retinochoroidal dystrophies does not exist. The names given to certain disorders are either based on ophthalmoscopic findings, or on histologic, electrophysiologic and genetic findings. Future research on the molecular genetic background will result in better definition of clinical entities. The purpose of this project is to outline a practical approach to inherited retinochoroidal dystrophies. For this reason, disorders with similar clinical symptoms are grouped together. Generalized retinochoroidal dystrophies affecting all retinal areas can be distinguished from regional dystrophies. Generalized dystrophies can be subdivided into those with peripheral onset, usually associated with initial rod function loss (night blindness, peripheral field loss: e.g. retinitis pigmentosa, choroideremia) and those with central onset associated with cone function loss (visual acuity loss, central scotoma, color vision deficits: e.g. cone or cone-rod dystrophies). Regionally limited dystrophies include the multitude of macular dystrophies and the autosomal dominant vitreoretinochoroidopathy, which remains limited to the periphery. It is important for a differential diagnosis to exclude involvement of other organ systems in syndromic disorders. Stationary inherited retinal dysfunction (e.g. monochromatism, congenital stationary night blindness) and other inherited or acquired diseases have to be excluded as well. Guidelines for differential diagnosis are presented.

Die adulte vitelliforme Makuladystrophie (AVMD) wird haufig fehldiagnostiziert. Grosere Studien mit modernen morphologischen und funktionellen Diagnosetechniken existieren nicht. Die Daten von 67 konsekutiven AVMD-Patienten (1994–2003) wurden retrospektiv ausgewertet (Farbensehen, Perimetrie, RPE-Autofluoreszenz, Angiographie, EOG, ERG, mfERG). Das mittlere Alter betrug 54,8 Jahre. Symptome, Visusminderung, Farbsehstorungen und Gesichtsfelddefekte zeigten eine hohe Variabilitat. Die Autofluoreszenz war in 77% der Augen zentral verstarkt. Die 30-Hz-Flimmerlichtamplitude des ERG war in 71% reduziert. Das mfERG zeigte in 62% zentral eine deutliche Reduzierung und nach peripher zunehmend eine Normalisierung der P1-Amplitude. Die verstarkte Autofluoreszenz weist auf einen vermehrten Lipofuszingehalt in der vitelliformen Lasion hin. ERG und mfERG ergeben eine generalisierte, zentral betonte, masig ausgepragte Zapfenfunktionsstorung. Die Kombination von Ophthalmoskopie, Autofluoreszenzmessung und Ableitung des mfERG ist zur Diagnosesicherung sinnvoll.