[Fitness to drive with glaucoma]. / Verkehrstauglichkeit beim Glaukom.

Glaucoma is one of the eye diseases that are particularly relevant to driving in old age. The ophthalmologist often has to take on the task of traffic medical consultation or medical appraisal. It is essential to distinguish between fitness to drive and driving ability or driving safety and driving capability. The medical examination of fitness to drive can only be carried out over long intervals and basically requires an ophthalmological examination in compliance with all the requirements of the driving license ordinance. This is not a healthcare task. In the case of clarification of the fitness to drive in people with known glaucoma on behalf of the test persons themselves or a driving license authority, visual field testing must be performed using manual kinetic perimetry according to Goldmann, especially for all borderline case decisions by traffic experts. The ophthalmologist faces the particular difficulty of maintaining a balance between the legal duty of care and patient-centered care in order not to strain the patient-physician relationship.

[Cut-off filter : Physical and physiological basics]. / Kantenfilter : Physikalische und physiologische Grundlagen.

Light filters with wavelength-dependent transmission and in particular cut-off or step filters (steep dependence of transmission on wavelength) have a broad optical application and are relevant in ophthalmology. This article describes some physical and physiological principles of cut-off filters, discusses the physiological aspects of applications, specifically the not always relevant necessity of blue-reducing filters and the lack of efficacy of color filters with color vision deficiencies.

[Edge filters : Medical indications and clinical application]. / Kantenfilter : Medizinische Indikation und klinischer Einsatz.

Edge filters are used in aphakic eyes as a substitute of the natural cut-off filter of the intact eye or in other causes of a lack of light absorption in the eye itself. Furthermore, they can remedy light adaptation disturbances, especially in hereditary retinal diseases and retinal dystrophy. They enhance contrast and reduce glare. In order to choose an adequate cut-off filter it is necessary to let the participants test various filters before prescription. Because of the (absolute) absorption of blue light, cut-off filters normally lead to a loss of ability to drive.

[Electronic vision aids : New options for rehabilitation of the visually impaired]. / Elektronische Hilfsmittel : Neue Möglichkeiten zur Rehabilitation Sehbehinderter.

Due to technical advances, there has been an enormous improvement of electronic vision aids in recent years. New developments are especially small portable devices which can be easily carried. The majority of electronic vision aids serve as a reading aid. Electronic magnifiers are a portable alternative to conventional screen readers. In addition, there are mobile reading devices and special computer tools. Color recognition devices and barcode scanners are helpful in everyday life. Ultrasonic orientation systems enable the recognition of obstacles also at head height. Mechanisms incorporated in shoes even comprise a navigation system. A brand new development is OrCam (OrCam Technologies Ltd., Israel), a small, inconspicuous camera system which is attached to the spectacles. It transmits vision information as a text. Smart phones and tablet personal computers have meanwhile been developed to such an extent that they replace more expensive special vision aids. Due to the immense technical progress, electronic vision aids provide visually impaired people with many elegant functions and new possibilities for ophthalmological rehabilitation. Besides the technical, mobile and financial aspects, the social acceptance of the devices, which should be as unobtrusive as possible, plays an essential role.

[Provision of aids to visually impaired people at the workplace]. / Hilfsmittelversorgung sehbehinderter Menschen am Arbeitsplatz.

The provision of aids for occupational use with partially sighted and blind people is not a measure for the necessary care but for an optimal work performance to secure the long-term occupational participation. This objective requires a significantly expanded consultation, which includes the occupational requirements at the specific workplace. The costs are not usually borne by the statutory health insurance but by another social insurance agency depending on the individual case. In this article several aids are presented in an occupational context, as well as the procedure for provision.

[Closed-circuit television systems : Current importance and tips on adaptation and prescription]. / Bildschirmlesegeräte : Aktueller Stellenwert und Hinweise zu Anpassung und Verordnung.

Closed-circuit television systems (CCTVs) have become an indispensable tool in rehabilitating low vision patients. Compared to optical visual aids, apart from providing maximum magnification these devices have the additional advantage of improved contrast sensitivity and an enlarged field of view. They are often the only visual aid enabling patients to regain reading ability. Our data reflect a decrease in the number of prescriptions caused by improved counseling of low-vision patients. Any prescription of reading aids must be preceded by comprehensive testing and counseling. More recent developments, such as electronic magnifiers are becoming increasingly more important but they are no substitute for CCTV.

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

We evaluated a multiple consanguineous Turkish family with two children, a boy and a girl, affected by severe encephalopathy, hypotonia, microcephaly and retinal dystrophy by a combination of linkage analysis and Whole Exome Sequencing (WES). We analyzed the sequence data by two different bioinformatics pipelines which did not differ in overall processing strategy but involved differences in software used, minor allele frequency (MAF) thresholds and reference data sets, the usage of in-house control exomes and filter settings to prioritize called variants. Assuming autosomal recessive mode of inheritance, only homozygous variants present in both children were considered. The resulting variant lists differed partially (nine variants identified by both pipelines, ten variants by only one pipeline). Major reasons for this discrepancy were different filters for MAF and different variant prioritizations. Combining the variant lists with the results of linkage analysis and further prioritization by expression data and prediction tools, an intronic homozygous splice variant (c.1090-2A>G; IVS9-2A>G; p.?) in PGAP1 (Post-GPI Attachment To Proteins 1) was identified and validated by cDNA analysis. PGAP1 ensures the first step of maturation of GPI (glycosylphosphatidylinositol)-anchor proteins. Recently, a homozygous loss-of-function mutation in PGAP1 has been reported in one family with two children affected by a similar phenotype. The present report not only illustrates the possible influence of specific filtering settings on the results of WES but also confirms PGAP1 as a cause of severe encephalopathy.

[Causes of blindness in students at the school for blind children in Ilvesheim. Changes between 1885 and 2008]. / Augenerkrankungen in der staatlichen Blindenschule Ilvesheim. Veränderungen von 1885 bis 2008.

PURPOSE: Since 1868, the Department of Ophthalmology at the University of Heidelberg has been providing care for the pupils of the school for blind and visually handicapped children in Ilvesheim, Germany. Previous studies on the causes of low vision have demonstrated the effects of the advances in medicine and ophthalmology with an explicit decrease in the number of inflammatory corneal diseases, followed by a reduced number of students suffering from congenital cataract and glaucoma. The aim of the present study was to evaluate current data and to compare it to previous data. METHODS: Ophthalmological data and additional disorders could be evaluated in 268 students visiting the special education school Schloßschule Ilvesheim between 2000 and 2008. The findings were compared to the results of previous studies concerning the degree of visual impairment and diagnosis. The children were divided according to German social law into blind, severely visually handicapped and visually handicapped. RESULTS: Out of the 268 students 83 (31.0%) were premature infants and 69 of these had additional disabilities, 130 were blind and 51 severely visually handicapped. Of the students 142 had additional learning, mental and/or motor handicaps. The most frequent cause of blindness or severe visual impairment was optic nerve atrophy (36.2 % and 37.3 %, respectively). The frequency of hereditary retinal diseases among the blind children was slightly higher with 24.6 % as compared to the data analysis from 1981 and was 15.7 % and 17.1 % among the severely visually handicapped and visually handicapped, respectively. Retinopathy of prematurity was diagnosed in approximately 20% of blind and severely visually handicapped children. CONCLUSIONS: As a result of the enormous advances of medical capabilities during the last decades the number of (formerly) premature infants has markedly increased. Most of these students are multiply handicapped and need extensive assistance. While the number of students suffering from hereditary retinal diseases was only minimally increasing during the last 40 years, the number of blind students without additional disabilities has decreased due to the improved technical means to integrate even blind students into main-stream schools.

[Functional diagnostic options for advanced and end stage glaucoma]. / Funktionsdiagnostische Möglichkeiten bei fortgeschrittenem oder präterminalem Glaukom.

The visual functional diagnostics for patients with advanced glaucomatous optic neuropathy are subject to challenge. Reduced visual acuity, instable fixation and extensive scotomata frequently lead to incorrect results within the central 30° or 24° field. Static automatic perimetry (SAP) in particular is often hampered by extended examination time and fatigue especially in older patients. Focusing of the examination towards the central 10° field using a dense test grid (2° distance between stimulus locations) allows a more exact assessment of the small remaining central island. Tailoring the examination area towards the central 10° field may be useful even in cases with a mean deviation (MD) of 15 dB. In cases of advanced visual field loss kinetic perimetry is superior to static perimetry for various reasons: sharply demarcated visual field defects can be comparatively easily delineated (edge detection); the results are more reliable because fixation can be easily controlled and fatigue is much less pronounced in this interactive examination procedure. However, manual kinetic visual field testing within the central 5° using the conventional Goldmann perimeter is almost impossible due to technical reasons. Semi-automated kinetic perimetry, presenting moving stimuli along interactively defined vectors is a useful tool under these circumstances. The standardized presentation of kinetic stimuli is also feasible within the pericentral region and has particular advantages also with regard to follow-up examinations. On the other hand, detection and delineation of small visual field remnants are comparatively difficult to handle with this kind of vector-based kinetic perimetry.

[Fundus perimetry in functional diagnostics of glaucoma. Applicable in the practice?]. / Fundusperimetrie in der Glaukomdiagnostik. Schon praktisch anwendbar?

Examination of the visual field using static automated perimetry (SAP) is the method of choice for the detection of functional damage secondary to glaucoma. However, with SAP early visual field defects might be missed even if there is already visible damage of the retinal nerve fibre. The microperimetry or beter fundus perimetry provides a detailed examination of the differential luminance threshold within defined retinal areas. However, in contrast to lesions of the retinal receptors, in cases of glaucomatous damage the retinal fibre course has to be considered resulting in a displacement between the structural lesion and the location of the related functional defect. The functional damage may be detected at earlier stages and with enhanced spatial resolution compared to conventional SAP. The extra costs and time associated with the application of fundus perimetry have prevented its widespread use. Current developments are leading to new options.

[Blindness in Germany - comparison between retrospective data and predictions for the future]. / Blindheit in Deutschland - Vergleich zwischen bekannten Daten und Vorhersagen.

AIM: There are no exact figures on the number of blind and visually impaired persons in Germany. The purpose of this study was to compare the development over the last years with earlier predictions and an outlook into the future. METHODS: Data from scientific publications as well as the Federal Statistical Office and from organizations for the blind on the frequency of blindness was compared to the forecast development of blindness. In addition the development of the frequency of age-related macular degeneration (ARMD) was taken into consideration. RESULTS: While the proportion of over 60-year-olds has steadily increased from 21% in 1993 to 25.9% in 2009, the ratio of blind people has risen from 8.9 per 10,000 inhabitants in 1993 to 10.6 per 10,000 inhabitants in 2003. However, up to 2009 decreased every year to 9.7 which is approximately the same as 1995, although ARMD has also become much more frequent as the main cause. Additionally there are considerable differences up to a factor two between the various studies on the number of blind people in different regions of Germany. DISCUSSION: At present there are approximately 150,000 blind and about 500,000 visually impaired persons in Germany. However, these numbers are only on the basis of estimates and according to studies in other European nations. Similar uncertainty exists concerning the diseases causing blindness. A transfer from epidemiological studies is limited especially because of the different definition of blindness. The expected increase of visually impaired and blind persons for the last 20 years as a result of the increasing age cannot be confirmed from the present data. It would be desirable to extensively register the specifications to prevalence and incidence of visual impairment and blindness including valid information on the corresponding cause to confirm the rising importance of visual impairment.

[Ocular signs of a mitochondrial trifunctional protein defect. A long-term follow-up]. / Okuläre Zeichen eines mitochondrialen trifunktionalen Proteindefekts. Eine Langzeitbeobachtung.

A 13-year-old boy presented with a defect of the mitochondrial trifunctional protein (MTP). The MTP complex catalyses ß-oxidation of long chain fatty acids. Disorders of this multienzyme complex result in accumulation of hydroxylated long chain fatty acids which leads to chorioretinopathy. Ophthalmoscopic findings in these patients include fine hyperpigmentation while autofluorescence reveals hyperfluorescent granules at the posterior pole. Visual acuity, visual fields and electroretinography are within the normal range. A special long chain fatty acid-reduced diet seems to delay the progression of chorioretinopathy.

[Dice test--a simple method for assessment of visual acuity in infants with visual deficits]. / Würfel-Test--eine einfache Methode zur Visusbestimmung bei Sehbehinderung im Kleinkindalter.

PURPOSE: Determination of visual acuity in low vision infants or patients with additional cerebral retardation is difficult. In our low vision department we used dice of different sizes and colors as well as other defined objects to determine visual acuity (VA). In this study we compared the results of the dice test with conventional tests for measurement of visual acuity. METHODS: A total of 88 children with different causes of visual impairment e.g. albinism, retinal scars, retinopathy of prematurity (ROP), achromatopsia and optic atrophy etc., were included in this longitudinal study. Median follow-up time was 8.7 years (range 2.9-18.9 years). The first reliable examination was performed between the ages of 4 and 24 months (median 11 months). We estimated VA depending on the edge length of the dice, which were recognized at a distance of 30 cm, while 4 mm complied with VA 20/200. Best corrected binocular visual acuity was compared between the dice test, measurement with the Lea symbols and with numbers or Landolt rings. RESULTS: Estimation of visual acuity using the dice test was possible at the end of the first year of life (median 11 months, range 4-27 months). Although observation is limited to visual acuity results in the low vision range between light reaction and 20/120 there was nearly complete agreement between all three VA measurements. Visual acuity ranged from light perception to 20/20 with a median of 20/100. In 39 patients visual acuity was 20/200 or less at the end of the observation period. Visual acuity estimation overestimated visual acuity only in 5 out of the 88 patients, while in all of the patients with later acuity measurements better than 20/200, our best value of 20/200 was achieved. CONCLUSIONS: Using simple visual objects, such as dice with different colors and size down to an edge length of 4 mm, it is possible to estimate visual acuity in low vision infants within the first year of life. This option is also very helpful in patients who are not able to perform other visual acuity measurements or to give reliable answers using preferential looking, such as severely handicapped patients. In contrast to preferential looking with this dice test there is not only judgment of the reaction by the observer but also activity of the patient who grips the dice he can really see. This allows better counseling of families with low vision infants concerning current and later visual functions.

[Coats' disease. Important differential diagnosis for retinoblastoma]. / Morbus Coats : Wichtige Differenzialdiagnose zum Retinoblastom.

Advanced Coats' disease is one of the most difficult differential diagnoses of retinoblastoma in early childhood. We describe the clinical and histological findings in two boys, ages 9 months and 21 months, with unilateral leucocoria. Despite comprehensive diagnostics that included examination under general anaesthesia, magnetic resonance imaging, and ultrasound, retinoblastoma could not be excluded, and the eyes were enucleated. Histological diagnosis of Coats' disease was confirmed. Because differentiation between retinoblastoma and Coats' disease may be difficult, enucleation seems to be indicated in uncertain cases due to the reduced visual prognosis and the risk of secondary complications in advanced Coats' disease.

[Determination of visual function in legal assessment]. / Objektivierung der Sehfunktionen bei Begutachtungen.

For the determination of visual function an objective assessment is essential. Basic ophthalmologic examinations such as measurement of visual acuity and perimetry are dependent on patient statements. If the patient is not being able to provide adequate answers, as is the case for small children or mentally retarded patients, or also if the accuracy of the patient's statements is doubtful or simulation or aggravation is suspected, the denoted function in the evaluation of visual acuity has to be checked on consistency using different examination methods, and the results of objective functional tests, such as electrophysiology and morphological features, have to be taken into account.

[Errors and difficulties in the assessment of severely handicapped and blind persons]. / Fehler und Schwierigkeiten der Beurteilung im Schwerbehinderten- und Blindenrecht.

The assessment of ophthalmological examination reports in social law is usually based on subjective statements by the petitioner made towards his ophthalmologist. Insufficient consideration of objective results as well as the limited experience of the officials in charge may lead to errors. An analysis of patients for consideration as legally blind in Baden, Germany, between 1980-1999, based upon 2,265 doubtful applications resulted in 33.3% false estimates by the patient's ophthalmologist. The reason, in the vast majority of cases, was misjudgment involving visual field defects or even missing manual-kinetic Goldmann perimetry. It may be assumed that this is also true for petitions in legislation for severely handicapped persons, particularly because the officials in charge are rarely ophthalmologists.

[Fundamentals for the medical evaluation of handicapped people in legislation]. / Grundlagen der Begutachtung nach dem Schwerbehindertengesetz und im sozialen Entschädigungsrecht.

In claims from social law, evaluation by the treating physician is often mandatory. He is obliged to provide information at the request of the social insurance carrier. Ophthalmologists are required to independently and objectively assess medical conditions, apart from a routine visit, and pass the data on to the consultants at the pension office in a understandable way. Functional impairment must be explained on the basis of morphology, diagnosis and examination results so that it becomes impartially comprehensible. Basically, examination results must be presented according to the standards of medical evaluation, such as DIN 58220 visual acuity testing and visual fields analogous to manual-kinetic perimetry by Goldmann perimeter or approved comparable methods of visual field testing. Results that are not compliant with the official standards need to be identified accordingly.

[Central serous chorioretinopathy--retinal function and morphology: microperimetry and optical coherence tomography]. / Chorioretinopathia centralis serosa--Netzhautfunktion und -morphologie: Mikroperimetrie und optische Kohärenztomografie im Vergleich.

BACKGROUND: The purpose of this study was to evaluate and compare retinal function and morphology in patients with central serous chorioretinopathy (CSC) using fundus perimetry and optical coherence tomography (OCT). PATIENTS AND METHODS: In 14 eyes of 14 patients with unilateral and first manifestation of CSC, fundus perimetry with the Microperimeter 1 (MP1) as well as OCT were carried out. The average retinal thickness and the average differential light threshold of the corresponding visual field were analyzed. RESULTS: All patients presented a serous detachment of the central neurosensory retina with a maximal retinal thickness of 381+/-82 microm. The microperimetric examination revealed on average a mean defect of 8.3+/-3.8 dB, which showed a good correlation to retinal thickness (r=0.73). Likewise, maximal retinal thickness and mean threshold values in the corresponding visual field displayed a good correlation (r=-0.58). CONCLUSION: The MP1 enables quantification of functional defects in patients with CSC. Although visual acuity was only slightly reduced, all patients showed extensive scotomata in fundus perimetry, which correlated well with retinal thickness.