An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK).

PURPOSE: To propose an optimized microsurgical and medical approach to reduce the risk of complications after penetrating keratoplasty (PKP) in patients with aniridia-associated keratopathy (AAK). METHODS: Retrospective observational case series of 25 PKP performed in 16 patients with AAK. Preoperative indications were endothelial decompensation and vascularized scars (68%) or graft failure (32%) due to limbal stem cell deficiency. The optimized approach included a combination of a small corneal graft size (around 7.0 mm), interrupted 10-0nylon sutures, simultaneous AMT as a patch, large bandage contact lens, temporary lateral tarsorrhaphy, postoperative autologous serum eye drops, and systemic immunosuppression. Main outcome measures included: visual acuity, transplant survival, and complications encountered during follow-up of 107 weeks on average. RESULTS: A complete modified keratoplasty scheme was used in 10 of 25 PKP (group 1), while at least one of the modifications was missing in the other 15 PKP (group 2). After 8 weeks of follow-up, the epithelium was closed in 23 eyes. Visual acuity improved in 19 eyes at 6 months of follow-up, and remained stable in six eyes. None of the eyes showed a decrease in visual acuity. At the last post-operative follow-up, this visual improvement persisted in 14 eyes and graft survival rate after 156 weeks (3 years) was 69% in group 1 versus 44% in group 2 (p = 0.39, log-rank test). Secondary corneal neovascularization (8%), scarring (4%), ulcer (4%), or graft rejection (8%) happened mostly in the second group which was missing at least one of the suggested modifications. CONCLUSIONS: PKP in congenital aniridia must be considered as a high-risk keratoplasty. An optimized therapeutic approach seems to be promising in order to reduce the postoperative complication rate in these most difficult eyes.

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation syndrome). The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75.5%) to partial aniridia or iris hypoplasia (24.5%). Additional ocular abnormalities were consistent with previous reports. In our cohort, we saw a previously not described high percentage of patients (45%) who showed non-ocular phenotypes. Prevalence of deletions coherent with WAGR syndrome appeared to be 19.4% out of sporadic patients. Among the other aniridia cases, PAX6 deletions were identified in 18 probands, and small intragenic changes were detected in 58 probands with 27 of these mutations being novel and 21 previously reported. In 3 families mosaic mutation was transmitted from a subtly affected parent. Therefore, PAX6 mutations explained 96.7% of aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene.

[PONV after strabismus surgery : Risk adapted prophylaxis?]. / PONV nach Strabismus-OP : Risikoadaptierte Prophylaxe?

BACKGROUND: Following strabismus surgery, patients frequently develop variable degrees of postoperative nausea and vomiting (PONV). These symptoms cause discomfort and result in serious complications such as intramuscular bleeding and subconjunctival hemorrhage. In children long lasting PONV can lead to and electrolyte imbalance and dehydration. A prolonged course of recovery is the consequence. For the hospital, PONV can also involve negative economic impacts because of a damaged public reputation of the institution. There is still an ongoing debate on wether prophylaxis of PONV is necessary and how the prophylaxis of PONV should be performed. On one hand, there are proponents of a liberal prophylaxis. These intend to treat almost all patients regardless of their individual risk for PONV. On the other hand, opponents point out that every medication has to be indicated individually. In their view, risk scores should be the base of a risk-adapted approach. OBJECTIVES: The aim of the study was to reduce the frequency of PONV by using an anesthetic technique adapted to the individual risk for PONV. Until now, all trials studying the efficiency of a score-based antiemetic prophylaxis were performed on adult patients. In this study, a risk-adapted approach was evaluated on children for the first time. PATIENTS AND METHODS: In 92 patients, the incidence of PONV was analyzed after strabismus surgery. Before surgery we evaluated the risk factors for PONV according to the POVOC score in children (n = 45, 49 %) and the Apfel's score in adults (n = 47, 51 %). Patients with 0-2 risk factors received a balanced anesthesia (n = 47, 51 %). Those with 3-4 risk factors were operated in total IV anesthesia (TIVA) with propofol (n = 45, 49 %). In addition, as an antiemetic prophylaxis, 0.15 mg/kg dexamethason and 0.1 mg/kg ondansetron were applied in the latter patients. we documented the symptoms and severity of PONV 2, 6 and 24 h after surgery by means of a standardized questionnaire for PONV (Wengritzky-Score). RESULTS: The incidence of PONV was 17 % (n = 16) in all of the patients. The incidence in low-risk patients receiving a BA without prophylaxis were 21 % in adults and 38 % in children. Of the patients at high risk for PONV receiving the multimodal antiemetic approach 8 % (adults) and 9 % (children) suffered from PONV. The combination of TIVA and antiemetics could reduce the incidence of PONV compared to the predicted values in a clinically relevant manner (OR = 0.26, KI: 0.76-0.87). CONCLUSION: The overall incidence could be reduced to a level below 20 %. Particularly in patients with a high risk of PONV, TIVA could clearly reduce the incidence. However, the incidence in patients with 2 risk factors is still high (30-39 %). Therefore, it is important to reconsider the effort involved with risk screening and individually adapting anesthesia. Risk stratification means a pre- and perioperative effort. Therefore, we advocate a more liberal approach for PONV prophylaxis.

[Neuroimaging of color and spatial perception]. / "Neuroimaging" der Farb- und Raumwahrnehmung.

Spatial orientation and perception of distance are anchored in the visual system in the same way as color perception. However, different centers with different levels of expression are involved in the various aspects of visual processing starting from the primary visual cortex in the occipital lobes. In this article the investigation methods and designs are described by which the various functions within the visual system can be assigned to the appropriate specialized center in the parietal and temporal lobes using functional magnetic resonance imaging (fMRI).

Sonographic and ophthalmic assessment of optic nerve in patients with idiopathic intracranial hypertension: A longitudinal study.

BACKGROUND: To assess the validity of neurosonological parameters (transorbital sonography (TOS)) for detection and monitoring of patients with idiopathic intracranial hypertension (IIH). METHODS: Prospective, single-center, case-controlled study in 25 patients with IIH and 19 controls. Visual parameters of papilledema, visual acuity, computerized static threshold perimetry, fundus examination, and neurosonological parameters of papilledema/optic disc elevation (ODE), optic nerve sheath diameter (ONSD) and optic nerve diameter (OND) were recorded at baseline and only for patients with IIH again within 6 months. RESULTS: ONSD was significantly enlarged among individuals with IIH (6.2 ± 0.73 mm) compared to controls (4.99 ± 0.54 mm; p < 0.001). Bilateral ODE was found in 36/50 eyes in patients at their initial visit and in none of the controls. Re-evaluation 6 months later showed a significant reduction of ONSD (6.0 ± 0.7 mm; p = 0.024) and ODE (0.2 (0-1) mm; p ≤0.001). Best corrected visual acuity (BCVA) and square root of lost variance (sLV) remained stable. Headache intensity (Numeric rating scale, NRS) improved significantly p < 0.001. When compared to patients with first diagnosed IIH (n = 18), the subset of patients with preexisting IIH with acute relapse (n = 7) showed persistent but reduced levels of ICP increase. They also presented significant decrease of BVCA (p = 0.01) and mean defect (MD) (p = 0.012). Re-evaluation 6 months later showed significant change in ODE in both groups. CONCLUSIONS: Our study confirmed that TOS and ophthalmological parameters are a valuable and non-invasive method to detect and monitor elevated ICP in IIH.

Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia.

PURPOSE: To evaluate conjunctival cell microRNA (miRNAs) and mRNA expression in relation to observed phenotype of progressive limbal stem cell deficiency in a cohort of subjects with congenital aniridia with known genetic status. METHODS: Using impression cytology, bulbar conjunctival cells were sampled from 20 subjects with congenital aniridia and 20 age and sex-matched healthy control subjects. RNA was extracted and miRNA and mRNA analyses were performed using microarrays. Results were related to severity of keratopathy and genetic cause of aniridia. RESULTS: Of 2549 miRNAs, 21 were differentially expressed in aniridia relative to controls (fold change ≤ -1.5 or ≥ +1.5). Among these miR-204-5p, an inhibitor of corneal neovascularization, was downregulated 26.8-fold in severely vascularized corneas. At the mRNA level, 539 transcripts were differentially expressed (fold change ≤ -2 or ≥ +2), among these FOSB and FOS were upregulated 17.5 and 9.7-fold respectively, and JUN by 2.9-fold, all being components of the AP-1 transcription factor complex. Pathway analysis revealed enrichment of PI3K-Akt, MAPK, and Ras signaling pathways in aniridia. For several miRNAs and transcripts regulating retinoic acid metabolism, expression levels correlated with keratopathy severity and genetic status. CONCLUSION: Strong dysregulation of key factors at the miRNA and mRNA level suggests that the conjunctiva in aniridia is abnormally maintained in a pro-angiogenic and proliferative state, and these changes are expressed in a PAX6 mutation-dependent manner. Additionally, retinoic acid metabolism is disrupted in severe, but not mild forms of the limbal stem cell deficiency in aniridia.

[Evaluation of a virtual reality simulator for learning direct ophthalmoscopy in student teaching]. / Evaluierung eines VR-Simulators zum Erlernen der direkten Ophthalmoskopie in der studentischen Lehre.

BACKGROUND: The use of direct ophthalmoscopy in non-ophthalmological specialties seems to be decreasing in the clinical routine. This could be due to a lack of training and thus an uncertain assessment. OBJECTIVE: The aim of this study was to evaluate the effectiveness and acceptance of learning direct ophthalmoscopy on a simulator in comparison to the classical teaching method among students. MATERIAL AND METHODS: Within the framework of the student block internship for ophthalmology, a total of 34 students took part in the project. The first group received classical training, the second group received simulator training. The learning success was assessed by an objective structured clinical examination (OSCE). RESULTS: The simulator training group showed a significantly higher points score in individual disciplines. The subjects in the classical group achieved a learning success in the OSCE of 78%. In the simulator-based group a higher score of 91% was achieved with a lower scatter in all subdisciplines. DISCUSSION: The patient and instructor-independent availability of the teaching materials, a reduction of light exposure for patients and test subjects, as well as a standardized and controlled mediation of physiological and pathological findings can be emphasized as advantages of the tested simulator. CONCLUSION: The simulator-based training for learning direct funduscopy is effective. The virtual reality simulator evaluated in this project can improve the training of students and residents.

Increased intracranial pressure caused by non-space-occupying arachnoid cysts: report of two patients.

In this article we report on two patients with arachnoid cysts previously treated by shunt implantation presenting with clinical signs of an increased intracranial pressure i. e., papilledema, headache and nausea. Repeated MRI scans showed no alteration of the cerebrospinal fluid circulation and no space-occupying effect of the cysts. Although neuroimaging showed no signs of increased intracranial pressure, neurosurgical exploration was performed and revealed a distinctly increased pressure in both arachnoid cysts. After replacement of the shunt a prompt reduction of papilledema and relief of symptoms was observed.

[Work in progress: adaptation of electronic medical records to the requirements of a university eye clinic : Individual extensions of the software "FIDUS" at the Department of Ophthalmology of the Saarland University Medical Center UKS]. / Work in Progress: Anpassung der elektronischen Patientenakte an die Anforderungen einer Universitätsaugenklinik : Individuelle Erweiterungen der Software "FIDUS" an der Klinik für Augenheilkunde am Universitätsklinikum des Saarlandes UKS.

BACKGROUND: The implementation of electronic medical records (EMR) in the Department of Ophthalmology at the Saarland University Medical Center (UKS) in January 2016 was a timely response to growing documentation requirements and rapidly increasing electronic diagnostic data. The software system was primarily developed for private practices and cannot therefore meet the different requirements of various clinics out of the box. The purpose of this study was to identify features of the EMR beyond purely paper replacement that can assist in the clinical workflow and whether these features can be implemented in a running system. METHODS: The EMR was specifically individualized with respect to the work processes and documentation requirements of the Department of Ophthalmology at the UKS. In addition to a seamless integration into the hospital information system (HIS) the modifications included changes in the structure and visual presentation of the EMR as well as functional extensions. An internet-based platform was set up to enable a direct exchange of appointments and patient data with specialist practices. RESULTS: Due to the introduction of a so-called ghost list the position of patients within the hospital who are allocated to a physician, e.g. for diagnostics, can be reconstructed at any point in time. The logging of the individual treatment times enables tracking of patient flow within the clinic and a reduction of waiting times. Existing paper documents particularly for the graphic recording of findings, such as sketches, are digitalized eliminating the need to scan documents. The UKS.AUGEN.NETZ is an internet-based portal to facilitate direct organization of appointments with specialist practitioners and for the exchange of digital examination data and medical correspondence. CONCLUSION: The permanent close cooperation between employees of the Department of Ophthalmology at the UKS and the manufacturer of the software enables a continuous optimization of the EMR in a fully operational clinical workflow. In addition, the web-based interface improves the cooperation between the hospital and private practices.

[Per aspera ad astra: implementation of electronic patient records in a university eye hospital : Experience with FIDUS in the Clinic for Ophthalmology at the Saarland University Medical Center UKS]. / Per aspera ad astra: Einführung einer elektronischen Patientenakte an einer Universitätsaugenklinik : Erfahrungen mit "FIDUS" in der Klinik für Augenheilkunde am Universitätsklinikum des Saarlandes UKS.

BACKGROUND: For more than 60 years patient records of the Department of Ophthalmology at the Saarland Medical Center in Homburg were documented on handwritten paper documents and filed in archives. Increasing requirements for medical documentation, exploding volumes of diagnostic data, overcrowded archives and unavailable files when needed, were the essential rationales for the implementation of an electronic patient archive (EPA). METHODS: The EPA has been specifically adapted to the requirements of the Department of Ophthalmology in order to guarantee a standardized unobstructed documentation and patient care across all sections of the department. Seamless integration into the clinic information system (KIS) and network-compatible diagnostic software were essential as well as a timely digitization of existing paper charts. Decisive factors for using FIDUS (Arztservice Wente GmbH, Darmstadt, Germany) as the EPA software were the visual layout of the EPA, user friendliness and reference installations of the software in other ophthalmology departments. RESULTS: After one and a half years of meticulous preparation with specific adaptations to the requirements of our department, the EPA was finally implemented in January 2016 and since then we have been working on improvements. The EPA software retrieves basic patient data from the KIS and diagnostic data from electronic devices via various interfaces. Expenses for printers could be reduced but computer workplaces had to be expanded or newly created. For previous patients paper files are digitized externally and stored in an electronic archive directly accessible from the EPA. DISCUSSION: Successful reorganization and implementation of electronic documentation during clinical routine is feasible with careful preparation and timely involvement of information technology experts, motivated physicians, nurses, research departments and the administration.

[Phenotype of the visual system in oculocutaneous and ocular albinism]. / Phänotyp des visuellen Systems bei okulokutanem und okulärem Albinismus.

In spite of albinism being one of the visual impairments which has been known for over a century, it has only been known for a few decades that albinism is correlated to severe cerebral morphological developmental alterations. The increasing knowledge about the role of melanin in the development and orientation of cerebral neurons not only renders more insight into albinism, but also a greater insight in the physiological neuronal and cerebral development in man. Concerning the morphological and visual phenotype there are new clinical findings which enlarge the known spectrum of albinism. In a representative group of 506 persons with oculocutaneous and ocular albinism who are in care at the Department of Ophthalmology at the University of Saarland (UKS), we present a staging of morphological findings of the iris, retinal pigment epithelium and macula, and of the optic nerve head which has been in use for 10 years. Albinism may present with a remarkably mild ocular phenotype and a near to normal functional phenotype. We present correlations between molecular genetic types of albinism, ocular phenotype and visual function. Of great importance concerning later visual acuity is the dysplasia of the optic nerve head (ONH), which is a frequent finding in albinism. The appearance of the ONH should always be included in any clinical description of an albinism patient. It is highly possible that due to a moderate phenotype there are still many patients who have not been diagnosed yet. Visual acuity of 30/20 to 20/20 and no nystagmus do not rule out albinism. In addition, when performing albino VEPs in phenotypically normal children with infantile strabismus, small ONHs, but normal visual acuity and no nystagmus, the classical atypical chiasmal crossing is sometimes found. Therefore, the number of persons having undiagnosed albinism is probably quite high, perhaps there even is a very broad transition zone from normal to albinotic.

[Genetics of oculocutaneous albinism]. / Genetik bei okulokutanem Albinismus.

Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin. Clinically, oculocutaneous and ocular types, as well as syndromes associated with albinism resulting from mutations in at least 14 genes, are distinguishable. Most frequent is oculocutaneous albinism (OCA), which is subdivided nowadays into four forms, OCA 1-OCA 4. OCA is inherited as an autosomal recessive trait. Clinical differentiation of OCA types is difficult due to the observed range of phenotypic variation. Thus, genetic analysis may be helpful with respect to a precise diagnosis. Sequencing of the four genes associated with OCA detects variations in approximately 60-70% of German patients with albinism. The majority of German patients are affected by OCA 1 resulting from mutations in the gene for tyrosinase, the key enzyme in the synthesis of melanin pigment. Worldwide, OCA2 is the most frequent form of albinism.

[Morphology of the optic chiasm in albinism]. / Morphologie des Chiasma opticum bei Albinismus.

Albinism is associated with a misrouting of fibers at the optic chiasm where the majority of fibers cross to the contralateral side. The cause of this abnormal decussation pattern reflects a disturbance of cell cycle regulation in the development of the retina which is in part controlled by melanin. Growing axons from retinal ganglion cells therefore arrive later than usual at the optic chiasm and are misrouted contralaterally. This atypical decussation leads to morphological changes of the optic chiasm including a reduced chiasm width with larger angles between optic nerves and tracts which can be shown by magnetic resonance imaging.

[Nystagmus. Clinical characteristics and therapeutic options]. / Nystagmus. Klinische Charakteristika, therapeutische Optionen.

This article presents an overview of the pathophysiology of nystagmus and the differential diagnostics of congenital and acquired nystagmus. In addition, the principles of conservative, surgical and pharmacotherapy treatment options are described. The pathophysiological basis of nystagmus deepens the understanding of the etiology of the individual forms of nystagmus. The therapeutic approach to calming of nystagmus aims at an extension of the foveation time, which has the most significant impact on visual acuity. In congenital nystagmus this can be carried out by optimization of the retinal image, prisms or by bilateral surgical muscle repositioning to use the phenomenon of a null or neutral zone. In acquired nystagmus the off-label use of centrally acting medications can sometimes be helpful to calm the nystagmus and the associated oscillopsia.

[Academic teaching at the department of ophthalmology of the University Clinic of Saarland (UKS) : The Homburg "Ophthalmo-Week"]. / Studentische Lehre an der Augenklinik des Universitätsklinikums des Saarlandes (UKS) : Der Homburger AUGENBLOCK.

BACKGROUND: Academic teaching activities at the department of ophthalmology of the University Clinic of Saarland (UKS) include the teaching of students during the "Ophthalmo-Week" with lectures and bedside teaching according to the academic conditions given by the law for medical schools in Germany, a spezialized course "Anterior Pole to Posterior Pole", teaching of locum students, students in their final year and tuition of PhD students. PURPOSE: Demonstration of the development of a structured teaching concept for medical students in ophthalmology including blended learning. Description of the problems encountered and the changes made during the transition from ex cathedra teaching to a mixture of lectures and practical hands-on and patient-centered teaching of the current Homburg "Ophthalmo-Week". In addition, the aim is to emphasize the importance of structured and detailed evaluation as a means to continually improve academic teaching. CONCLUSION: In the light of the current demographic changes and the relative lack of young trainees in many medical specialities in Germany, good academic teaching is becoming more and more important. Good academic teaching including positive evaluations can elucidate the interest of medical students for non-mainstream medical specialties such as ophthalmology. In addition, good and profiled academic teaching promotes research by attracting medical students to apply for PhD work at these hospitals. Furthermore, the profile of the department can be improved in comparison to departments of the same specialty in neighboring universities. Transferability of methods of academic teaching is as important as sustainability. To keep up the high standards of blended learning all medical personnel of the hospital need to be involved during the short-term focused teaching periods.

[Unusual course of a chalazion]. / Ungewöhnlicher Verlauf eines "Chalazions".

BACKGROUND: A chalazion is a benign, inflammatory tumor of the eyelid caused by an obstruction of the excretory duct of a meibomian gland. Usually a chalazion shows a slow painless and non-inflammatory progression. Interestingly, sinus infections can initially simulate chalazia by causing an orbital involvement with eyelid swelling. CASE REPORT: We report the case of a 15-year-old boy with frontal and ethmoidal sinusitis with inflammatory orbital infiltration and subacute eyelid swelling. The cerebral imaging showed an encapsulated brain abscess so that an urgent surgical removal of the abscess cavity was indicated. After several neurosurgical procedures a complete remission of the abscess could be achieved. In spite of the large abscess in the frontal lobe the boy never showed any neurological or psychiatric symptoms. CONCLUSION: In atypical courses of a chalazion the clinical picture requires further diagnosis including evaluation and imaging in otorhinolaryngology and neurology.

[Trabeculotomy before the estimated delivery date. Case report of a preterm infant with buphthalamus]. / Trabekulotomie vor dem errechneten Geburtstermin. Falldarstellung eines Frühgeborenen mit Buphthalmus.

Congenital glaucoma is a disease potentially leading to blindness in children. It poses a diagnostic and therapeutic challenge even though new knowledge has been acquired and a sufficient understanding of the pathogenesis has been gained. New discoveries, such as the exact time when Schlemm's canal develops could lead to a prenatal diagnosis and therefore surgical intervention so that other complications including blindness can be avoided. This case report demonstrates that an early prenatal eye screening with ultrasound (after approximately 30 weeks of pregnancy) would be desirable in order to diagnose buphthalmus early and to plan postnatal surgery.

[Eye and general illnesses in the public school for blind and visually handicapped students in Saarland. Developments in the last 20 years]. / Augen- und Allgemeinerkrankungen in der Landesschule für Blinde und Sehbehinderte des Saarlands. Entwicklungen in den letzten 20 Jahren.

BACKGROUND: The aim of the study was the evaluation of how ophthalmological diagnoses and the proportion of multiply handicapped children has changed within the last 20 years at a state school for visually handicapped and blind children. PATIENTS AND METHODS: A profile investigation was conducted on all 105 children at the Landesschule für Blinde und Sehbehinderte des Saarlandes and compared to the results of an examination from 1975. RESULTS: The predominant ophthalmological diagnoses were: optic atrophy (17.5%), ocular albinism (11.9%), scar-stage IV and V of retinopathy of prematurity (11.1%), as well as tapetoretinal dystrophies with related syndromes (8.7%) and myopia magna (7.9%). Blind: 10.3% (1975: 36.4%); visually handicapped: 47.1% (1975: 49.2%); multiply handicapped: 42.5% (1975: 14.4%). CONCLUSIONS: (1) The diseases that dominated in earlier years in schools for the visually handicapped have become rare (cataract, aphakia, buphthalmia, macular dystrophy--all less than 5%); (2) the proportion of completely blind pupils has become much smaller; (3) there is an increasing tendency to educate visually handicapped pupils in regular schools with integrative aids; (4) there is also an increasing proportion of multiply handicapped children (school and kindergarten: 42%, early patronage 74%).