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One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even prevention of the corneal dystrophies, an ambitious goal. Over a decade has passed since the first publication of the IC3D Corneal Dystrophy Nomenclature Revision. Gene therapy is available for an early-onset form of inherited retinal degeneration called Leber congenital amaurosis, but not yet for corneal degenerations. We review the current state of affairs regarding our original ambitious goal. We discuss genetic testing, gene therapy [RNA interference (RNAi) and genome editing], and ocular delivery of corneal gene therapy for the corneal dystrophies. Why have gene therapy techniques not yet been introduced for the corneal dystrophies?

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 keratoplasty. In most cases, neither ocular nor hematologic treatment afforded a durable improvement in the visual acuity (recurrence after a median of 11 months), despite initial responses. Further studies will be required to determine the optimal strategy to treat and prevent the relapse of ocular symptoms in patients with PPK.

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. Plasmapheresis followed by chemotherapy with or without the addition of rituximab resulted in improvement or normalization of the ophthalmological findings in 15 patients.Conclusion: The ocular manifestations of WM are protean and potentially sight threatening. Recent advances in genomic profiling and chemotherapy have remarkably improved the hematological and ophthalmological outcomes of these patients.

An der Hornhaut konnen sich zahlreiche Systemerkrankungen manifestieren. Die korneale Manifestation ist mitunter das erste Zeichen des Allgemeinleidens. Sie ausert sich auf ganz unterschiedliche Art und Weise wie z. B. in einer peripheren Geschwurbildung oder einer kristallinen Keratopathie. Die Therapie ist interdisziplinar und richtet sich so weit wie moglich gegen das Grundleiden.

In 2015, the first revision of the international classification of corneal dystrophies (IC3D) has been published. According to this latest version of the IC3D the dystrophies of the cornea are divided into · epithelial and subepithelial dystrophies,. · epithelial-stromal TGFBI dystrophies,. · stromal dystrophies, and. · Descemet-membrane and endothelial dystrophies.. This article summarizes the epithelial and subepithelial dystrophies of the cornea, which, according to IC3D are the following: · epithelial basement membrane dystrophy (EBMD),. · epithelial recurrent erosion dystrophy (ERED),. · subepithelial mucinous corneal dystrophy (SMCD),. · Meesmann corneal dystrophy (MECD),. · Lisch epithelial corneal dystrophy (LECD),. · gelatinous drop-like corneal dystrophy (GDLD).. The main problem concerning almost all dystrophies of the corneal epithelium are epithelial defects (erosion) associated with pain, epiphora and red eyes. In addition, all dystrophies of the epithelium tend to relapse.While therapy is usually initiated with topical therapeutics, in the course of the disease invasive procedures like phototherapeutic keratectomy (PTK) (possibly with the administration of mitomycin C) or in severe cases even keratoplasty (preferably as deep anterior lamellar keratoplasty; DALK) have to be used. Due to the origin of the disease in the epithelial stem cells at the limbus, the replacement of these cells can also be discussed.

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-Descemet’s layer. The corneal findings were unchanged after a follow up of eight years. However, there was a conversion to multiple myeloma (MM) type IgG with progressive anemia and suspicious bone lesions. A multiple systemic myeloma-therapy was indicated. Chemotherapy with subsequent tandem autologous-stem cell therapy (auto-SCT) was performed. The blood examination after this therapy showed a complete remission of multiple myeloma, and it was also very surprising that the serum copper level was within normal range. This finding remained unchanged over a period of five years. The bilateral corneal opacification was identical to that before chemotherapy. To the best of our knowledge, this represents the first observation of a normalization of copper levels in Lewis syndrome after chemotherapy. Conclusions and importance The Lewis syndrome represents a very rare disorder. The first case reported in Europe (Lisch et al., 2016)1 showed a conversion from biclonal gammopathy of undetermined significance to MM after a follow-up of 17 years. Subjectively, the patient was in excellent health. The typical corneal, discoid brownish opacification at the level of Descemet's membrane is a suspicious hint of a copper disturbance for the ophthalmologist. The copper level of our patient was extremely elevated. The corneal opacification however, remained unchanged throughout the repeated ophthalmological examinations. In 2015, the conversion of our case with Lewis syndrome to MM performing chemotherapy in different steps and a twice auto-SCT resulted in a complete remission of MM and a normal range of the serum copper. The bilateral corneal opacification remained unchanged during an observation period of five years after chemotherapy.

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 with amyloidosis (23%). AL amyloidosis was diagnosed in 18 patients with systemic disease, 3 with multiple myeloma, and 11 with localized amyloidosis. AA amyloidosis was detected in 2 patients with rheumatoid arthritis and 3 with Behcet syndrome, and transthyretin amyloidosis in 4 patients. The treatment of AL amyloidosis is based on chemotherapy to suppress the production of amyloidogenic L-chains and on surgical excision of orbital or conjunctival masses. AA amyloidosis is managed by targeting the underlying condition. Vitreous opacities and additional findings of ocular involvement in patients with transthyretin amyloidosis indicate the need for pars plana vitrectomy. Gelsolin amyloidosis, characterized by lattice corneal amyloidosis and polyneuropathy, results in recurrent keratitis and corneal scarring, such that keratoplasty is inevitable. In patients with lattice corneal dystrophies associated with amyloid deposits of keratoepithelin fragments, corneal transparency is compromised by deposits of congophilic material in the subepithelial layer and deep corneal stroma. Patients with established corneal opacities are treated by corneal transplantation, but the prognosis is poor because recurrent corneal deposits are possible after surgery. In patients with gelatinous drop-like dystrophy, the amyloid fibrils that accumulate beneath the corneal epithelium consist of lactoferrin and can severely impair visual acuity. Keratoplasty and its variants are performed for visual rehabilitation.Conclusion: A routine ophthalmic follow-up is recommended for all patients with established or suspected amyloidosis, independent of the biochemical type of the amyloid. Close collaboration between the ophthalmologist and the internist will facilitate a more precise diagnosis of ocular involvement in amyloidosis and allow the multidisciplinary management of these patients.Abbreviations: CD: corneal dystrophy; CLA: corneal lattice amyloidosis; CNS: central nervous system; CT: computed tomography; FAP: familial amyloidotic polyneuropathy; GDLCD: gelatinous drop-like corneal dystrophy; GLN: gelsolin; LCD: lattice corneal dystrophy; MRI: magnetic resonance imaging; OLT: orthotopic liver transplantation; TEM: transmission electron microscopy; TGFBI: transforming growth factor β induced; TTR: transthyretin.

Contact lenses (CLs) provide a superior alternative to spectacles. Although beneficial, the global burden of ocular dysfunctions attributed to regular use of CLs remains a topic of much challenge in ophthalmic research owing to debilitating clinical repercussions on the ocular surface, which are often manifested as breach in tear film integrity. This study elucidated the intricate tear proteome changes attributed to the use of different CLs (hard and soft) and unravelled, for the first time, the restorative mechanisms of several protein clusters following acute renouncement of CL use employing the label-free mass spectrometry-based quantitative proteomics approach. The expression patterns of certain proteins clusters were specific to the use of a particular lens type and a large majority of these actively regulates cell death and survival and, modulates cellular movement on the ocular surface. Noteworthy, CL use also evoked a significant upregulation of glycolytic enzymes associated with hypoxia and corresponding cognate metabolic pathways, particularly glucose metabolism and FXR/RXR pathways. Importantly, the assessment of CL renouncement unravelled the restorative properties of several clusters of proteins involved mainly in organismal injury and abnormalities and, cellular function and maintenance. These proteins play key roles in restoring tear homeostasis and wound-healing mechanisms post-CL use-elicited injury.

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 Ursache der Erosion sind häufig aberrante Basalmembranen, die zu einer umschriebenen Verdünnung des Epithels führen können und klinisch als „Maps“ oder „Fingerprints“ imponieren. Bei der ERED sind rezidivierende Erosionen obligat, vor allem in den ersten Lebensdekaden und auf Störungen der Hemidesmosomen durch das COL17A1-Gen zurückzuführen. Fakultative, seltene, punktförmige Erosionen im Rahmen der MECD entstehen histologisch durch Öffnen der Mikrozysten an der Hornhautepitheloberfläche. Die Therapie der rezidivierenden Erosio bei allen spezifischen Dystrophien überschreitet selten die Therapietrias aus Benetzungsmitteln, therapeutischen Kontaktlinsen und ggf. Abrasio und phototherapeutischer Keratektomie.

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 retrospective series of patients with MGOS. Data was collected on patients with MGOS:there were no other inclusion criteria besides monoclonal gammopathy with an ophthalmologic manifestation; however, this report focuses only on patients with PPK. Efficacy outcomes were the hematologic and the ocular responses in patients with PPK. Hematologic responses were reported according to the IMWG response criteria. The ophthalmologic response to treatment was assessed by each contributing physician and reported as either complete, partial or no sight recovery. Results We identified 23 patients with PPK in the setting of monoclonal gammopathy of unknown significance (MGUS), smoldering multiple myeloma (SMM), or multiple myeloma (MM) diagnosed between 2006 and 2019 in 7 countries. Table 1 summarizes the patients' characteristics. The ocular diagnosis was typically made at the same time or after the hematologic diagnosis. Eleven of 23 patients presented decreased vision. Four were treated by penetrating keratoplasty with or without systemic therapy, including chemotherapy with new generation anti-MM agents with or without autologous stem cell transplantation (ASCT). All patients with MM and 40% of those with other diagnoses such as SMM or MGUS received systemic therapy. In most cases, neither ocular nor hematologic treatment, even when ASCT was performed, afforded a durable improvement in the visual acuity despite initial responses. MGOS typically relapsed within one year of the initial response (Table 2). Conclusion To date, this is the largest retrospective study focusing on MGOS patients with monoclonal immunoglobulin deposits accumulating in the cornea and resulting in visual impairment. Further studies will be required to determine the optimal strategy to treat and prevent the relapse of ocular symptoms in patients with PPK and specifically to address the timing of keratoplasty and systemic chemotherapy and the role of maintenance therapy. Patients with corneal manifestation of unknown origin should undergo a hematologic check-up and patients with paraproteinemia should have a periodic ocular health assessment. Figure 1 Figure 1. Disclosures Garderet: Takeda: Consultancy; Sanofi: Consultancy; Amgen: Consultancy; Janssen: Consultancy; Celgene: Consultancy. Munder: Janssen: Consultancy, Honoraria; BMS: Consultancy, Honoraria; Abbvie: Consultancy; Takeda: Consultancy, Honoraria; Amgen: Honoraria; Sanofi: Consultancy; GSK: Consultancy; Incyte: Research Funding. Gozzetti: AbbVie: Honoraria; Janssen: Honoraria. Rosinol: Janssen, Celgene, Amgen and Takeda: Honoraria. Jurczyszyn: Janssen-Cilag, Amgen: Honoraria, Speakers Bureau.

Dieser Fallbericht beschreibt eine diagnostische Kette, die bei einem Patienten mit untypischer bilateraler Hornhauttrubung zum Finden einer hamatologischen Diagnose fuhrte. Die Anamnese, das klinische Bild und die konfokale Mikroskopie ergaben den Verdacht auf eine paraproteinamische Keratopathie. Die hamatologische Labordiagnostik zeigte eine monoklonale Gammopathie vom Typ IgG-Kappa. Die Knochenmarkpunktion deckte ein kleinzelliges B‑Zell-Non-Hodgkin-Lymphom – lymphoplasmozytoides Immunozytom auf. Mit der paraproteinamischen Keratopathie konnen potenziell lebensgefahrliche hamatologische Krankheitsbilder assoziiert sein.

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.

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 correlation has not been demonstrated. However, for the dystrophies associated with mutations in the transforming growth factor, s-induced gene (TGFBI) a general phenotype-genotype correlation is evident. The discovery of collagen, type XVII, alpha 1 mutation (COL17A1), causative in the called epithelial recurrent erosion dystrophy (ERED) was a very important step in the accurate diagnosis of corneal dystrophies. This led to the subsequent discovery that the entity previously called 10q Thiel-Behnke corneal dystrophy, was in reality actually COL17A1 ERED, and not Thiel-Behnke corneal dystrophy. In addition to the phenotypic landmarks, we describe the current genotype of the individual corneal dystrophies. Differential diagnosis can be aided by information on histopathology, optical coherence tomography (OCT), and confocal microscopy.

In 2015, the first revision of the international classification of corneal dystrophies (IC3D) has been published. According to this latest version of the IC3D the dystrophies of the cornea are divided into · epithelial and subepithelial dystrophies,. · epithelial-stromal TGFBI dystrophies,. · stromal dystrophies, and. · Descemet-membrane and endothelial dystrophies.. This article summarizes the epithelial and subepithelial dystrophies of the cornea, which, according to IC3D are the following: · epithelial basement membrane dystrophy (EBMD),. · epithelial recurrent erosion dystrophy (ERED),. · subepithelial mucinous corneal dystrophy (SMCD),. · Meesmann corneal dystrophy (MECD),. · Lisch epithelial corneal dystrophy (LECD),. · gelatinous drop-like corneal dystrophy (GDLD).. The main problem concerning almost all dystrophies of the corneal epithelium are epithelial defects (erosion) associated with pain, epiphora and red eyes. In addition, all dystrophies of the epithelium tend to relapse.While therapy is usually initiated with topical therapeutics, in the course of the disease invasive procedures like phototherapeutic keratectomy (PTK) (possibly with the administration of mitomycin C) or in severe cases even keratoplasty (preferably as deep anterior lamellar keratoplasty; DALK) have to be used. Due to the origin of the disease in the epithelial stem cells at the limbus, the replacement of these cells can also be discussed.Dieser Beitrag stellt die epithelialen und subepithelialen Hornhautdystrophien gemäß IC3D-Klassifikation und deren Abgrenzung gegenüber den Degenerationen dar. Neben der Einteilung wird auf die Diagnostik und Therapie der Hornhautdystrophien eingegangen; anschließend werden die einzelnen Krankheitsbilder besprochen.

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 generally classified: (1) Thirteen CDs with early and late clinical landmarks. However, it must be pointed out that the different penetrances of the gene often leads to quantitative differences in the corneal phenotype in peers in distinct generations of the same family. (2) Seven CDs with late onset and very little progression of the corneal changes. (3) Two CDs with congenital haze which can be interpreted as the final phenotype of this dystrophy. This applies to autosomal dominant and recessive inheritance.

The corneal epithelium is the most important structure of the ocular optical system. Recurrent corneal erosions can result from inflammation, trauma, degeneration and dystrophies. Epithelial basement membrane dystrophy (EBMD), epithelial recurrent erosion dystrophy (ERED) and Francheschetti and Meesmann's epithelial corneal dystrophy (MECD) can all - besides other signs and symptoms - result in more or less frequent corneal erosions. The pathomechanisms involved however are different. In EBMD, corneal erosions are facultative and clinical signs are often subtle. Aberrant basement membrane structures are associated with thinning of the epithelium and can be clinically identified as maps or fingerprints. In ERED, recurrent corneal erosions are - predominantly in the first decades of life - always present. A defect in the COL17A1 gene results in a dysfunctional hemidesmosome. In MECD, punctate corneal erosions are less frequent and result from intraepithelial microcysts which open spontaneously onto the ocular surface. Usually lubricants, therapeutic contact lenses and sometimes epithelial debridement and phototherapeutic keratectomy are the mainstay for treating corneal erosions in these three dystrophies.Das 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 Ursache der Erosion sind häufig aberrante Basalmembranen, die zu einer umschriebenen Verdünnung des Epithels führen können und klinisch als „Maps“ oder „Fingerprints“ imponieren. Bei der ERED sind rezidivierende Erosionen obligat, vor allem in den ersten Lebensdekaden und auf Störungen der Hemidesmosomen durch das COL17A1-Gen zurückzuführen. Fakultative, seltene, punktförmige Erosionen im Rahmen der MECD entstehen histologisch durch Öffnen der Mikrozysten an der Hornhautepitheloberfläche. Die Therapie der rezidivierenden Erosio bei allen spezifischen Dystrophien überschreitet selten die Therapietrias aus Benetzungsmitteln, therapeutischen Kontaktlinsen und ggf. Abrasio und phototherapeutischer Keratektomie.

Ziele: Vorschlag, wie eine Hornhautdystrophie an der Spaltlampe diagnostiziert werden sollte und Darstellung der IC3D-Klassifikation der Hornhautdystrophien von 2015, die neue Informationen enthalt. Methoden: Das IC3D berucksichtigte weltweit alle Publikationen uber Hornhautdystrophien (HD) mit Peer Review zwischen 2008 und 6/2014. So wurden die HD-Mustervorlagen und anatomische Klassifikation aktualisiert. Ergebnisse: Um Schlusselbefunde („landmarks“) fur die korrekte Einordnung einer HD zu detektieren, mussen Trubungsmuster und Trubungseinheiten an der Spaltlampe festgelegt werden. Trubungsmuster werden bestimmt nach (1) horizontaler Ausdehnung, (2) vertikaler Ausdehnung („Tiefe“) und der Beschaffenheit der (3) Kornea dazwischen. Die horizontale Ausdehnung wird im breiten Spalt beurteilt, die Tiefenausdehnung im messerdunnen, sehr hellen Spalt. Fur die exakte Klassifikation der Trubungseinheiten ist die Untersuchung im regredienten Licht bei weiter Pupille unerlasslich! Dies gilt besonders fur die epithelialen und endothelialen Dystrophien. Basierend auf einer genaueren Spezifikation der zellularen Grundlage der HD wurde eine neue anatomische Klassifikation vorgeschlagen: 1. Epitheliale und subepitheliale Dystrophien; 2. epithelial-stromale-Transforming-Growth-Factor-Beta-induzierte (TGFBI) Dystrophien; 3. stromale Dystrophien; 4. endotheliale Dystrophien. Die „epitheliale rezidivierende Erosionsdystrophie“ subsumiert derzeit 3 separate epitheliale Dystrophien (Franceschetti-HD, Dystrophia Smolandiensis und Dystrophia Helsinglandica) und muss differenziert werden von TGFBI-Dystrophien, die mit sekundaren rezidivierenden Erosionen einhergehen konnen. Der Genort der Thiel-Behnke-HD ist beschrankt auf Chromosom 5q31. Die Thiel-Behnke-HD mit dem Genort auf Chromosom 10q24 reprasentiert eine eigene HD, die sich von Thiel-Behnke-HD unterscheidet. Die kongenitale hereditare Endotheldystrophie (CHED, fruher CHED2) wird nur autosomal-rezessiv vererbt. Die autosomal-dominant vererbte CHED (fruher CHED1) unterscheidet sich nicht ausreichend von anderen HD, um als eigenstandige Entitat zu bestehen. Viele Kasuistiken mit CHED1 zeigen Ahnlichkeiten mit anderen HD, v. a. der posterioren polymorphen HD. Schlussfolgerungen: Die Revision der IC3D aus 2015 prasentiert eine anatomische Klassifikation der HD, die v. a. die TGFBI-Dystrophien besser beschreibt, indem sie berucksichtigt, dass diese HD mehrere Zelltypen und Hornhautschichten betreffen. Einige Entitaten, z. B. Grayson-Wilbrandt-HD, Meretoja-Syndrom und CHED2 wurden entfernt. Alle Autoren und Reviewer sollen sich an die aktuellste Klassifikation halten!

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 dystrophies. Most of the dystrophy templates are updated. The entity "Epithelial recurrent erosion dystrophies" actually includes a number of potentially distinct epithelial dystrophies (Franceschetti corneal dystrophy, Dystrophia Smolandiensis, and Dystrophia Helsinglandica) but must be differentiated from dystrophies such as TGFBI-induced dystrophies, which are also often associated with recurrent epithelial erosions. The chromosome locus of Thiel-Behnke corneal dystrophy is only located on 5q31. The entity previously designated as a variant of Thiel-Behnke corneal dystrophy on chromosome 10q24 may represent a novel corneal dystrophy. Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely only an autosomal recessive disorder. The so-called autosomal dominant inherited CHED (formerly CHED1) is insufficiently distinct to continue to be considered a unique corneal dystrophy. On review of almost all of the published cases, the description appeared most similar to a type of posterior polymorphous corneal dystrophy linked to the same chromosome 20 locus (PPCD1). Confocal microscopy also has emerged as a helpful tool to reveal in vivo features of several corneal dystrophies that previously required histopathologic examination to definitively diagnose.This revision of the IC3D classification includes an updated anatomic classification of corneal dystrophies more accurately classifying TGFBI dystrophies that affect multiple layers rather than are confined to one corneal layer. Typical histopathologic and confocal images have been added to the corneal dystrophy templates.

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.

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 revealed a transforming growth factor beta-induced (TGFBI) Leu509Pro mutation in the first family, and a TGFBI Arg124Cys mutation in the second family. The demonstrated 5 corneal grafts of the 3 LCD1-patients showed diffuse opacities of distinct severity, beginning 3 to 4 years postoperatively, that were often combined with corneal erosions and consecutive pain. In none of our patients, we were able to detect any signs of lattice formation in the form of gray lines that run obliquely from the surface to the midstroma in direct illumination. In retroillumination, no lattice opacity units in the form of translucent and refractile lines were visible on the graft. CONCLUSIONS The TGFBI gene, that is responsible for LCD1, is expressed above all by the corneal epithelial cells but also by the keratocytes. We interpret the superficial diffuse LCD1 recurrences on the graft as the product of the epithelial cells, whereas the nonoccurrence of lattice lines as long as 18 years after keratoplasty, an indirect sign that the lattice lines are the product of the keratocytes. Thus, LCD1 seems to represent an epithelial-stromal entity, because both epithelial cells and keratocytes are involved.

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) with PHSCO were included in this study. In 21 eyes, vascularization in the area of PHSCO was visualized with the Angiovue-OCT, whereas only 10 eyes presented vessels in slit lamp photographs. Conclusion Optical coherence tomography angiography allows better visualization of corneal neovascularization than slit lamp photography in patients with PHSCO. Corneal opacifications were found predominantly nasally, which was reflected by a local enlargement of corneal thickness.

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 Speicherkrankheit durch die entsprechende Enzymtherapie ganz entscheidend geholfen werden kann. Es werden folgende Hornhaut-Schlusselbefunde vorgestellt, mit Hinweis auf die spezifische Therapie nach eindeutiger Festlegung der systemischen Entitat: Cornea verticillata bei Morbus Fabry, regelmasige Infusionstherapie mit Alpha-Galaktosidase A; Kayser-Fleischer-Ring bei Morbus Wilson, Zink, Trientin, kupferarme Diat; multiple, punktformige Kristalle bei Zystinose; Cysteamin, Raptor RP 103 (DR Cysteamin), womit die Zytotoxitat verringert wird, indem es kontinuierlich Cystin aus dem Lysosom entfernt, Nierentransplantation, hamatopoietische Stammzellentransplantation; peripherer Ring, jedoch kein Arcus lipoides in Kombination mit einer schwach-diffusen Stromatrubung bei LCAT-Mangel, Injektionen von rekombinanten Enzym oder von verkapselten Zellen, die LCAT sezernieren; diffuser stromaler Haze bei Mucopolysaccharidosen (MPS) – MPS I, II und VI sind die ersten Mucopolysaccharidose-Typen, fur die eine Enzymersatztherapie zur Verfugung steht, hamatopoietische Stammzellentransplantation; schmerzhafte, beiderseitige pseudodendritische Hornhauttrubungen bei Tyrosinamie Typ II (Synonym: Richner-Hanhart-Syndrom), phenylalanin- und tyrosinarme Ernahrung fuhrt innerhalb von wenigen Tagen zu einem kompletten Verschwinden der Hornhautveranderungen mit konsekutiver okularer Beschwerdefreiheit. Diese Diat muss regelmasig und uber das ganze Leben strikt eingehalten werden, um Hornhautrezidive sowie Palmo-Plantarkeratosen zu verhindern, kann aber uber Jahrzehnte eine sonst normale Lebensfuhrung gewahrleisten.

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 auch diskrete Hornhauttrubungen wie z. B. solche bei der gittrigen, granularen, makularen oder Reis-Bucklersʼschen HD, die den Augenarzt auf die richtige diagnostische Spur fuhren, nicht im Sinne einer entzundlichen, sondern dystrophischen Genese der beklagten Schmerzsymptomatik. Rezidivierende Hornhauterosionen im Kindesalter mit massiven Beschwerden treten auch bei einer anderen Gruppe von Hornhautdystrophien, wie z. B. bei der autosomal-dominant vererbten Franceschetti-Hornhautdystrophie, auf, ohne dass nach Abheilen der Erosion die geringsten Hornhauttrubungen festzustellen sind. Erst im Erwachsenenalter nehmen die Beschwerden ab, gleichzeitig treten jedoch visusreduzierende, diffuse, subepitheliale Hornhauttrubungen auf. Milchglasartige, beiderseitige Trubungen im Sauglingsalter konnen bei verschiedenen endothelialen Hornhautdystrophien beobachtet werden. Hier ist von entscheidender Bedeutung die diagnostische Abgrenzung gegenuber dem kongenitalen Glaukom. Grundsatzlich sollten beide Elternteile eines derartig betroffenen Sauglings an der Spaltlampe untersucht werden, um bei ihnen eventuell Trubungen im Sinne von mondkraterartigen Veranderungen des Hornhautendothels ein- oder auszuschliesen.

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 peripheral zones.The mean intraclass correlations (ICCs) for intraobserver and interobserver reproducibility were almost perfect (0.81-0.99) for CT in all corneal zones and for ET in all but 2 peripheral zones. Intraobserver ICC was substantial (0.61-0.8) for superior peripheral area and interobserver ICC for superior and inferior peripheral positions. CT and ET decreased significantly from morning to afternoon sessions [-3.15 μm (P0.0001) and -0.52 μm (P0.0001), respectively]. ET correlated weakly to moderately with CT.RTVue yields almost perfect reproducibility for CT and ET in central, paracentral, and peripheral lateral zones. Central CT and ET were significantly thinner in the afternoon compared with the morning.

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 Keratoplastik mittels Phakoemulsifikation und Hinterkammerlinsen-Implantation behandelt werden. Zahlreiche, vergleichende Untersuchungen der einzelnen Operationstechniken sind hinsichtlich ihrer intra-und postoperativen Vorteile und Resultate im vollen Gange und benotigen noch Jahre fur eine endgultige Bewertung.

To demonstrate 5 different patterns of immunotactoid keratopathy (ITK) in monoclonal gammopathy of undetermined significance (MGUS) that can mimic hereditary and degenerative disorders. First follow-up of 1 female patient was performed.Colored slit-lamp photodocumentation of 6 MGUS light kappa patients with different types of ITK, one patient with a follow-up of 7 years. Systemic and serological examinations of all 6 patients were performed.The systemic and serological examinations disclosed an MGUS light kappa in all 6 patients. The 7-year follow-up of case 2 showed a reduction of lattice-like opacity to moderate diffuse corneal opacity. Corneal opacity patterns of the 6 patients were as follows: pattern 1, crystalline-like; pattern 2, lattice-like; pattern 3, peripheral granular-like; pattern 4, peripheral band-like; and patterns 5 and 6, peripheral patch-like.ITK of MGUS can mimic cystinosis, Schnyder corneal dystrophy (CD), pre-Descemet CD, lattice CD, granular CD, arcus lipoides, lecithin-cholesterol acyltransferase deficiency, gelatinous drop-like CD, and Salzmann nodular degeneration. ITK can be the first symptom of MGUS. An annual internal check of MGUS is recommended because of occurrence of a systemic monoclonal gammopathy in 20% of cases.

BACKGROUND: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis. PURPOSE: The purpose of this study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis. METHODS: The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. RESULTS: This anatomic classification continues to organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from 1 through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a welldefined corneal dystrophy in which a gene has been mapped and identified and specific mutations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available. CONCLUSIONS: The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is user-friendly and upgradeable and can be retrieved on the website www.corneasociety.org/ic3d . KEY WORDS: corneal dystrophy, inherited corneal disease, genetic corneal disease, corneal histopathology, gene, mutation, key reference, eponym, epithelial basement membrane dystrophy, epithelial recurrent erosion dystrophy, subepithelial mucinous corneal dystrophy, Meesmann corneal dystrophy, Lisch epithelial corneal dystrophy, gelatinous drop-like corneal dystrophy, Grayson-Wilbrandt corneal dystrophy, lattice corneal dystrophy, lattice gelsolin type dystrophy, granular corneal dystrophy 1, granular corneal dystrophy 2, Avellino corneal dystrophy, Reis-Bucklers corneal dystrophy, Thiel-Behnke corneal dystrophy, macular corneal dystrophy, Schnyder corneal dystrophy, Schnyder crystalline corneal dystrophy, congenital stromal corneal dystrophy, fleck corneal dystrophy, posterior amorphous corneal dystrophy, central cloudy dystrophy of Francxois, pre-Descemet corneal dystrophy, Fuchs endothelial corneal dystrophy, posterior polymorphous corneal dystrophy, congenital hereditary endothelial dystrophy 1, congenital hereditary endothelial dystrophy 2, X-linked endothelial corneal dystrophy

Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Recently, six different mutations on the UBIAD1 gene on chromosome 1p36 were found to result in SCCD. The purpose of this article is to further characterize the mutation spectrum of SCCD and identify structural and functional consequences for UBIAD1 protein activity. DNA sequencing was performed on samples from 36 individuals from 14 SCCD families. One affected individual was African American and SCCD has not been previously reported in this ethnic group. We identified UBIAD1 mutations in all 14 families which had 30 affected and 6 unaffected individuals. Eight different UBIAD1 mutations, 5 novel (L121F, D118G, and S171P in exon 1, G186R and D236E in exon 2) were identified. In four families with DNA samples from both affected and unaffected individuals, the D118G, G186R, T175I, and G177R mutations cosegregated with SCCD. In combination with our previous report, we have identified the genetic mutation in UBIAD1 in 20 unrelated families with 10 (including 5 reported here), having the N102S mutation. The results suggest that N102S may be a mutation hot spot because the affected families were unrelated including Caucasian and Asian individuals. There was no genotype phenotype correlation except for the T175I mutation which demonstrated prominent diffuse corneal haze, typically without corneal crystals. Protein analysis revealed structural and functional implications of SCCD mutations which may affect UBIAD1 function, ligand binding and interaction with binding partners, like apo E.

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 practice of medicine in England. RESULTS Oskar Fehr published >50 articles and was the first to describe the endemic swimming pool conjunctivitis. He was the first to specifically distinguish granular, lattice, and macular corneal dystrophies. Professor Oskar Fehr was the chair of one of the most important eye clinics in Germany for nearly 30 years. The "Anti-Jewish Medical Laws" with their terrible consequences on private and professional lives led to Fehr's emigration from his homeland to England in 1939. He obtained a British medical doctor degree after 4 years of study, and at an advanced age, he demonstrated his determination to practice ophthalmology successfully in London. Oskar Fehr died in London on August 1, 1959.

Corneal dystrophies typically result in a gradual bilateral loss of vision in a primary 'white eye' - often in conjunction with epithelial defects in later stages. Treatment of corneal dystrophies needs to be stage-related. To ensure a stage-related therapeutic approach, an adequate classification based on clinical, histopathological and genetic knowledge is indispensable. In principle, topical medications, contact lenses and various microsurgical approaches are applicable. In case of predominantly superficial dystrophies of the epithelium, basal membrane and/or Bowman's layer (map-dot-fingerprint, Meesmann, Lisch, Reis-Bücklers, Thiel-Behnke), recurrent epithelial defects may complicate the clinical picture. If conservative therapy with gels/ointments, application of therapeutic contact lenses and/or conventional corneal abrasion are not successful, phototherapeutic keratectomy (PTK) using a 193-nm excimer laser is the method of choice today. PTK can be repeated several times, thus post poning corneal transplantation (lamellar or even penetrating) for a long time. Three major goals may be achieved by PTK depending on the diagnosis: (1) to remove superficial opacities; (2) to regularize the surface and treat irregular astigmatism, and (3) to improve the adherence of the epithelium. In dystrophies with depositions predominantly in the stroma (e.g. granular, lattice, macular, recurrence on the graft), PTK may be a reasonable alternative to anterior lamellar or penetrating keratoplasty (PKP) depending on the exact localization of the lesions. Besides exact determination of the depth of depositions using a slit lamp, a preoperative topography analysis is indispensable. The therapy of endothelial dystrophies depends on diagnosis and age: Fuchs endothelial corneal dystrophy will need corneal transplantation (e.g. when visual acuity drops below 0.4). In contrast, transplantation will only be very rarely necessary in posterior polymorphous corneal dystrophy, but the intraocular pressure has to be checked frequently. Especially in elderly patients with reduced compliance, posterior lamellar keratoplasty - preferably in the form of Descemet stripping automated endothelial keratoplasty - may be performed instead of PKP. In case of congenital hereditary endothelial dystrophy, the best time point of PKP has to be determined with regard to amblyopia (surgery too late) and inadequate follow-up (surgery too early) together with parents and pediatric ophthalmologists on an individual basis. In conclusion, for stage-related therapy of corneal dystrophies, besides contact lenses, PTK and PKP, various techniques of lamellar keratoplasties represent an indispensable enrichment of our corneal microsurgical spectrum today.

The International Committee for Classification of Corneal Dystrophies, briefly IC3D, was founded to develop a new, internationally accepted classification of corneal dystrophies (CDs) based on modern clinical, histological and genetical knowledge. Being members of the IC3D, the authors of this chapter present a clinical landmark survey of the different CDs. The ophthalmologist is the first to examine and to diagnose a new patient with a probable CD using a slit lamp. The presented landmarks are supposed to be a bridge for the ophthalmologists to precisely define the corneal opacities of a presumed CD. This bridge makes it easier for them to study the IC3D publication and to get more information including adequate differential diagnosis.

The International Committee for Classification of Corneal Dystrophies, briefly IC3D, was founded to develop a new, internationally accepted classification of corneal dystrophies (CDs) based on modern clinical, histological and genetical knowledge. Being members of the IC3D, the authors of this chapter present a clinical landmark survey of the different CDs. The ophthalmologist is the first to examine and to diagnose a new patient with a probable CD using a slit lamp. The presented landmarks are supposed to be a bridge for the ophthalmologists to precisely define the corneal opacities of a presumed CD. This bridge makes it easier for them to study the IC3D publication and to get more information including adequate differential diagnosis.

Corneal dystrophies typically result in a gradual bilateral loss of vision in a primary 'white eye' - often in conjunction with epithelial defects in later stages. Treatment of corneal dystrophies needs to be stage-related. To ensure a stage-related therapeutic approach, an adequate classification based on clinical, histopathological and genetic knowledge is indispensable. In principle, topical medications, contact lenses and various microsurgical approaches are applicable. In case of predominantly superficial dystrophies of the epithelium, basal membrane and/or Bowman's layer (map-dot-fingerprint, Meesmann, Lisch, Reis-Bucklers, Thiel-Behnke), recurrent epithelial defects may complicate the clinical picture. If conservative therapy with gels/ointments, application of therapeutic contact lenses and/or conventional corneal abrasion are not successful, phototherapeutic keratectomy (PTK) using a 193-nm excimer laser is the method of choice today. PTK can be repeated several times, thus post poning corneal transplantation (lamellar or even penetrating) for a long time. Three major goals may be achieved by PTK depending on the diagnosis: (1) to remove superficial opacities; (2) to regularize the surface and treat irregular astigmatism, and (3) to improve the adherence of the epithelium. In dystrophies with depositions predominantly in the stroma (e.g. granular, lattice, macular, recurrence on the graft), PTK may be a reasonable alternative to anterior lamellar or penetrating keratoplasty (PKP) depending on the exact localization of the lesions. Besides exact determination of the depth of depositions using a slit lamp, a preoperative topography analysis is indispensable. The therapy of endothelial dystrophies depends on diagnosis and age: Fuchs endothelial corneal dystrophy will need corneal transplantation (e.g. when visual acuity drops below 0.4). In contrast, transplantation will only be very rarely necessary in posterior polymorphous corneal dystrophy, but the intraocular pressure has to be checked frequently. Especially in elderly patients with reduced compliance, posterior lamellar keratoplasty - preferably in the form of Descemet stripping automated endothelial keratoplasty - may be performed instead of PKP. In case of congenital hereditary endothelial dystrophy, the best time point of PKP has to be determined with regard to amblyopia (surgery too late) and inadequate follow-up (surgery too early) together with parents and pediatric ophthalmologists on an individual basis. In conclusion, for stage-related therapy of corneal dystrophies, besides contact lenses, PTK and PKP, various techniques of lamellar keratoplasties represent an indispensable enrichment of our corneal microsurgical spectrum today.

Patient: A 63-year-old man without complaints presented with a bilateral symmetric opacity of the cornea between the mid and the outer periphery which was classified as Ascher's ring. Conclusions: Ascher's ring is a very rare entity. Characteristic slit lamp features allow its differentiation from other anular corneal opacities. Corneal or systemic alterations of the lipid metabolism can be discussed. Heredity can be suspected but could not be proved as yet. The visual prognosis is excellent. Therapy is not necessary.

PURPOSE: To describe the use of soft contact lenses (CL) to reduce the epithelial opacities of Lisch epithelial corneal dystrophy (LECD). First presentation of confocal microscopy in LECD. METHODS: Two unrelated female patients with LECD demonstrated a central gray opacity with distinct visual impairment. The first patient wore a daily hydroxyethlmethacrylate (HEMA) CL for 3 months and the second, a daily silicone hydrogel CL for 1 month. Pre-CL and post-CL appearances of the cornea were photodocumented at the slit lamp. Additionally, in the second patient, a confocal microscopic evaluation of LECD was performed. RESULTS: In both patients, the wearing of CL resulted in a distinct reduction of central corneal opacification with a visual improvement. Discontinued wearing of CL induced again a progression of opacity. The confocal microscopy disclosed the typical intracytoplasmatic vacuolization of the involved epithelial cells. CONCLUSIONS: Wearing CL for a longer duration causes a significant regression of corneal opacities in LECD. The etiology of this phenomenon is interpreted as a CL-induced thinning of corneal epithelium and reduction of epithelial layers.

Five family members and three unrelated patients (four women, four men, 23 to 71 years old) had a dystrophy of the corneal epithelium. Direct slit-lamp examination showed bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in three patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before. The corneal opacities were progressive in two patients but diminished noticeably in another after he began using a hard contact lens. We found no other ophthalmic irregularities or associated systemic abnormalities and no indication of drug-induced keratopathy.