Professor Dr Med Oskar Fehr: the fate of an outstanding German-Jewish ophthalmologist: an early contributor to cornea and external disease.

PURPOSE The aim of this study was to recount the immense and abrupt change in the private and professional life of a prominent German-Jewish ophthalmologist in the transition from democracy to dictatorship in Germany during the first half of the 20th century. METHODS This involves a Retrospective analysis of Fehr's clinical and scientific work as the first assistant of Julius Hirschberg's world-famous eye clinic in Berlin; evaluation of Fehr's successful tenure as a chair of Virchow's Eye Hospital; the catastrophic influence of Hitler's seizure of power on the private and professional lives of German-Jewish physicians; and an analysis of Fehr's personal and professional will to continue the…

Reproducibility and Daytime-Dependent Changes of Corneal Epithelial Thickness and Whole Corneal Thickness Measured With Fourier Domain Optical Coherence Tomography.

To evaluate the reproducibility of Fourier domain anterior segment optical coherence tomography (RTVue) based on repeated measurements of corneal thickness (CT) and epithelial thickness (ET) and to test daytime-dependent changes of these parameters.Twenty-three eyes from 23 healthy volunteers were included in this prospective study. Three clinical observers performed 3 consecutive measurements each of CT and ET in 3 sessions using RTVue, resulting in 9 measurements per session. Session 1 was performed at 9 AM ± 1 hour, session 2 at 4 PM ± 1 hour on the same day, and session 3 at 9 AM ± 1 hour 2 days later. CT and ET were assessed in 9 areas: corneal vertex, 4 paracentral zones, and 4 periph…

The Spectrum of Ocular Manifestations in Patients with Waldenström's Macroglobulinemia.

Purpose: To investigate the ocular manifestations in 91 Waldenstrom's macroglobulinemia (WM) patients.Methods: Retrospective, cross-sectional, observational analysis.Results: Ocular impairments, detected in 19 patients, included flame-shaped hemorrhages, venous sausaging, papilledema, macular detachments, or central retinal vein occlusion in 16 patients; paraproteinemic keratopathy in 2; and a CANOMAD syndrome in 1. Best-corrected visual acuity was ≥0.5 logMAR units in 11 of 38 eyes. Intraocular pressure was increased in seven eyes. Genetic analysis in seven patients showed a mutation in the MYD88 gene in six patients and a nonsense mutation in the CXCR4 gene in five patients. Plasmapheresi…

The Corneal Dystrophies—Does the Literature Clarify or Confuse?

Clinical and genetic update of corneal dystrophies.

The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlatio…

Hornhaut: endotheliale Dystrophien, endotheliale Degenerationen

Dieser Ubersichtsartikel bietet einen kurzen Uberblick uber die endothelialen Hornhautdystrophien (HD) und Degenerationen, deren primare Storung im Bereich des einschichtigen Endothels bzw. der Descemet-Membran liegt, sowie deren Therapie. Hornhautendotheldegenerationen sind definiert als Veranderungen des Endothels aufgrund von Alterungsprozessen oder durch Trauma (z. B. nach Kataraktchirurgie). Hornhautdystrophien beschreiben eine Vielzahl verschiedener erblicher Krankheitsbilder, bei denen meist ein bilateraler, nahezu ausschlieslicher Befall der Hornhaut vorliegt. Die Vererbung ist meist autosomal-dominant, kann aber auch autosomal-rezessiv und X-chromosomal-dominant sein.

Lattice Corneal Dystrophy Type 1

PURPOSE To evaluate the question whether lattice corneal dystrophy type 1 (LCD1) is of epithelial or stromal origin. METHODS The landmark of advanced LCD1 shows central superficial haze and paracentral stromal lattice lines. In 16 eyes of 8 affected individuals of 2 families, a penetrating keratoplasty was performed. The follow-up was 8 to 16 years after penetrating keratoplasty. Slit-lamp documentation of the patients was evaluated in direct and indirect illumination with dilated pupil to assess the horizontal and vertical pattern of new deposits on the corneal graft. Three affected patients of 2 families are demonstrated in detail. A DNA analysis was performed. RESULTS Gene identification…

Hornhaut-Schlüsselbefunde im Kindesalter als Hinweis für therapierbare systemische Stoffwechselerkrankungen

Es gibt eine Reihe von systemischen lysosomalen Stoffwechselerkrankungen, bei denen bereits im Kindesalter krankheitsspezifische Hornhauttrubungen zu beobachten sind. Unter Lysosomen verstehen wir winzige Zellorganellen, die vom Golgi-Apparat gebildet werden. Sie enthalten verschiedene hydrolytische Enzyme und Phosphatasen, womit Fremdstoffe oder korpereigene Stoffe verdaut werden konnen. Die richtige Einordnung der Hornhautveranderung durch den Augenarzt an der Spaltlampe kann zur richtigen Diagnose der jeweiligen systemischen Stoffwechselerkrankung fuhren. Eine moglichst fruhe Diagnosestellung ist aktuell besonders bedeutend, da heute einem Grosteil der Patienten mit einer Speicherkrankhe…

Rezidivierende Hornhauterosion bei epithelialen Hornhautdystrophien

ZusammenfassungDas Hornhautepithel stellt die wesentliche abbildende Struktur des optischen Systems dar. Rezidivierende Hornhauterosionen können durch Entzündung, Trauma, Degenerationen und Dystrophien verursacht werden. Die epitheliale Basalmembrandystrophie (EBMD), die epitheliale rezidivierende Erosionsdystrophie (ERED) nach Francheschetti und die Meesmannʼsche epitheliale Hornhautdystrophie (MECD) führen jenseits unterschiedlicher Symptome und klinischer Zeichen – bedingt durch verschiedene Pathomechanismen – mehr oder weniger häufig zu einer Erosio corneae. Diese treten bei der EBMD fakultativ auf, wobei jedoch das Krankheitsbild der EBMD sehr versteckt sein kann. Die histologische Urs…

Amyloidosis and Ocular Involvement: an Overview.

Purpose: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.Methods: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).Results: Overall, ocular morbidity was detected in 41 of the 178 patients w…

Monoclonal gammopathy of ocular significance (MGOS) – a short survey of corneal manifestations and treatment outcomes

Monoclonal gammopathy of ocular significance (MGOS) is a rare subset of monoclonal gammopathy of clinical significance occurring secondary to plasma cell disorders and causing ocular manifestations. We identified 23 patients with paraproteinemic keratopathy (PPK) in the setting of monoclonal gammopathy of unknown significance (MGUS, 10), smoldering multiple myeloma (SMM, 3) or multiple myeloma (MM, 10). Many of these patients with PPK (11/23) presented decreased vision. All patients with MM and 40% of those with other diagnoses such as SMM and MGUS received systemic therapy with or without autologous stem cell transplantation. Four eyes of four patients were treated by penetrating keratopla…

Franceschetti Hereditary Recurrent Corneal Erosion

To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.Observational case series.Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members.All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult pat…

Corneal dystrophies as a cause of recurrent erosions

Visualization of corneal vascularization in peripheral hypertrophic subepithelial corneal opacification with OCT angiography.

Purpose The major goal of this study was to test the hypothesis that in patients with peripheral hypertrophic subepithelial corneal opacification (PHSCO), visualization of corneal vessels is better with optical coherence tomography angiography (OCTA) than with conventional slit lamp microphotography. Methods Patients with PHSCO were included in this prospective study. The corneal findings were photographed using a slit lamp camera (Haag Streit BM 900® ) and visualized with anterior-segment OCT (Optovue XR Avanti, Fremont, California, USA). Additionally, OCTA with the Angiovue Imaging™ System was performed in the area of PHSCO. Results Thirty-four eyes of 19 patients (26% male and 74% female…

Clinical signs of paraproteinemic keratopathy

Sonne, Mond und Sterne

Corrigendum to “Clinical and genetic update of corneal dystrophies” [YEXER 186C (2019) 107715]

Corneal opacity and copper levels of the Lewis syndrome after systemic chemotherapy

Abstract Purpose To report a female patient of biclonal Lewis syndrome which consists of a trias: biclonal gammopathy of undetermined significance, paraproteinemic keratopathy in form of a brownish discoid opacification at the level of Descemet's membrane and hypercupremia. After several years there was a conversion to multiple myeloma. Systemic chemotherapy led to a complete remission of multiple myeloma and to a normalization of the copper level in the blood that lasted five years. The corneal opacification remained unchanged. Observations A currently 66-year-old woman suffered from biclonal Lewis syndrome. On both eyes there is a central discoid yellow-brownish discoloration in the Pre-D…

Hornhautdystrophie-(HD-)bedingte Schmerzen und Visusbeeinträchtigung im Kindesalter

Zahlreiche Formen der 25 Hornhautdystrophien (HD) weisen bereits im Kindesalter beginnende, meist bilaterale dystrophiespezifische Hornhauttrubungen auf, die aber in diesem Stadium das Sehvermogen nicht oder nur wenig beeintrachtigen. Mit dem Beginn der Hornhauttrubungen konnen jedoch rezidivierende Epitheldefekte der Hornhaut auftreten, die immer mit starken Schmerzen, rotem Auge und Epiphora verbunden sind, z. B. nestartige Gitterlinien + Erosio bei der gittrigen HD. Meist treten diese attackenartigen, uber mehrere Tage reichenden Beschwerden wechselseitig auf. Die Eltern kommen mit ihrem Kind wegen der anhaltenden Schmerzen zum Augenarzt. Meist bestehen am nicht schmerzhaften Partnerauge…

Monoclonal Gammopathy of Ocular Significance (MGOS) - a Series of Corneal Manifestations and Treatment Outcomes

Abstract Introduction Monoclonal gammopathy of ocular significance (MGOS) is a rare subset of monoclonal gammopathy of clinical significance (MGCS) occurring secondary to plasma cell dyscrasia resulting in ocular manifestations. Given the rarity of these conditions, optimal management strategies are not defined; the approach is dependent upon the underlying cause of the monoclonal gammopathy and whether or not the patient's vision is affected. We report our review of 23 cases with MGOS, more specifically on paraproteinemic keratopathy (PPK) the most common form, to obtain a better understanding of the patient characteristics, diagnosis and treatments. Methods We report an international retr…

Endotheliale Hornhautdystrophien (HD) - Diagnose und Therapie

Die 4 endothelialen Hornhautdystrophien (HD) werden hinsichtlich Klinik, Histologie und Genetik prazisiert. Von diesen ist die Fuchs-endotheliale HD in Europa und Nord-Amerika ein haufig zu beobachtendes Krankheitsbild. Neben der bullosen Keratopathie stellt die Fuchs HD heute die haufigste Indikation zur posterioren lamellaren Keratoplastik dar, die aktuell auch unter der Bezeichnung „Descemet Stripping Endothelial Keratoplasty“ oder abgekurzt als „DSEK“ fungiert. Die Vor- und Nachteile der „DSEK“ gegenuber der ausgereiften Excimerlaser-assistierten perforierenden Keratoplastik werden gegenubergestellt. Eine oft bei Fuchs HD gleichzeitig bestehende Katarakt sollte moglichst vor der Keratop…

Early and late clinical landmarks of corneal dystrophies

Abstract Corneal dystrophies (CDs) represent a heterogenous group of genetic diseases (Lisch and Weiss, 2019). The International Committee of Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy (CD) which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant and recessive patterns do exist. A detailed corneal examination of as many affected family members as possible can show the phenotypic differences of the various generations. There are few publications which describe the different CDs with regard to the early and late phenotypes. According to early and late phenotype, three types of CD are gene…

Paraproteinämische Keratopathie als klinisches Zeichen einer monoklonalen Gammopathie

ZusammenfassungPatienten mit monoklonaler Gammopathie können eine behandlungsbedürftige paraproteinämische Keratopathie (PPK) aufweisen. Die PPK muss gegenüber verschiedenen Formen von Hornhautdystrophie, einzelnen systemischen Stoffwechselstörungen mit Hornhautbeteiligung sowie gegenüber immunologischen und inflammatorischen Hornhauterkrankungen abgegrenzt werden.

IC3D Classification of Corneal Dystrophies—Edition 2

To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added.On the basis of revisiting the cellular origin of corneal dystrophy, a modified anatomic classification is proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial-stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial d…