[Diagnostics, clinical aspects and genetics of congenital corneal opacities]. / Diagnostik, Klinik und Genetik kongenitaler Hornhauttrübungen.

BACKGROUND: Congenital corneal opacities are comparatively rare diseases with high amblyogenic potential. PURPOSE: The present work provides an overview of the diagnostics, clinical aspects and genetics of congenital corneal opacities. METHODS: A literature search was carried out to compile an overview and illustration with own clinical case examples. RESULTS: Differentiated diagnostics are of high importance in the treatment of patients with congenital corneal opacities. A close cooperation between the medical departments involved and also the parents is absolutely essential. The structured classification of congenital corneal opacities provides the basis for a targeted treatment. DISCUSSION: The causes and the clinical symptoms of congenital corneal opacities are manifold. The correct diagnosis should be made early and in an interdisciplinary manner. Based on this, conservative and surgical treatment measures can be planned and an impending development of amblyopia can be specifically counteracted.

Long-term health sequelae and quality of life at least 6 months after infection with SARS-CoV-2: design and rationale of the COVIDOM-study as part of the NAPKON population-based cohort platform (POP).

PURPOSE: Over the course of COVID-19 pandemic, evidence has accumulated that SARS-CoV-2 infections may affect multiple organs and have serious clinical sequelae, but on-site clinical examinations with non-hospitalized samples are rare. We, therefore, aimed to systematically assess the long-term health status of samples of hospitalized and non-hospitalized SARS-CoV-2 infected individuals from three regions in Germany. METHODS: The present paper describes the COVIDOM-study within the population-based cohort platform (POP) which has been established under the auspices of the NAPKON infrastructure (German National Pandemic Cohort Network) of the national Network University Medicine (NUM). Comprehensive health assessments among SARS-CoV-2 infected individuals are conducted at least 6 months after the acute infection at the study sites Kiel, Würzburg and Berlin. Potential participants were identified and contacted via the local public health authorities, irrespective of the severity of the initial infection. A harmonized examination protocol has been implemented, consisting of detailed assessments of medical history, physical examinations, and the collection of multiple biosamples (e.g., serum, plasma, saliva, urine) for future analyses. In addition, patient-reported perception of the impact of local pandemic-related measures and infection on quality-of-life are obtained. RESULTS: As of July 2021, in total 6813 individuals infected in 2020 have been invited into the COVIDOM-study. Of these, about 36% wished to participate and 1295 have already been examined at least once. CONCLUSION: NAPKON-POP COVIDOM-study complements other Long COVID studies assessing the long-term consequences of an infection with SARS-CoV-2 by providing detailed health data of population-based samples, including individuals with various degrees of disease severity. TRIAL REGISTRATION: Registered at the German registry for clinical studies (DRKS00023742).

Spatial filtering of a six-wavelength DBR-RW laser in a MOPA system.

Lasing emission at multiple wavelengths can be used in different sensing applications and in optical telecommunication. In this work, we report a six-wavelength distributed Bragg reflector (DBR) laser, emitting around 976 nm with six ridge waveguide (RW) structures, where individual DBR gratings are combined into a common front section. These six elements are individually addressable and biased one at a time for individual wavelength selection. The drawback of this RW combination is observable in spatial characteristics where higher-order modes are supported. We addressed this issue by using a master oscillator power amplifier (MOPA) system that combines the six-wavelength MO laser with a tapered PA. Through this configuration, the PA acts as a spatial filter of the MO beam, providing a nearly diffraction-limited beam with M1/e22<1.5. In addition, the described MOPA system provides output powers around 4 W with spectral single-mode operation, with up to 9.36 nm of thermal wavelength tuning. We believe that the described MOPA configuration can be used in different applications, such as absorption spectroscopy.

Occurrence and determinants of parental psychosocial stress and mental health disorders in parents and their children in early childhood: rationale, objectives, and design of the population-based SKKIPPI cohort study.

PURPOSE: The postnatal period is a vulnerable time for parents and children but epidemiological and health care utilisation data for Germany on parental mental health during early childhood is scarce. This protocol describes the rationale, aim and study design of a population-based cohort study to assess the occurrence and determinants of psychosocial stress and mental health disorders, as well as the use and cost of health care and social services in early childhood. METHODS: As part of the collaborative SKKIPPI project, we will contact a random sample of 30,000 infants listed in the residents' registration offices of three German towns and we expect to include 6,000 mother-child pairs. Both parents are invited to fill out an online screening questionnaire. Mothers with indications of psychosocial stress will be interviewed to assess mental health disorders, regulatory problems of their children, as well as health care and social services utilisation, with a follow-up assessment after 6 months. RESULTS: After description of sociodemographic and health data, we will analyse occurrences, patterns, and potential determinants (maternal age, social status, household factors, migration status etc.) of psychosocial stress and mental health disorders in the mothers and their children in early childhood. CONCLUSIONS: Our study will identify potential risk and protective factors for postnatal mental health and health care utilization of psychosocially burdened families. This will help to improve prevention and treatment strategies to strengthen the parent-child relationship, to reduce persisting vulnerability of children, and to improve health care and social services. TRIAL REGISTRATION: The study has been registered in the German Clinical Trial Registry on February 8th 2019 (DRKS-ID: DRKS00016653).

[Strabologic and neuro-ophthamologic aspects of childhood cancer]. / Strabologische und neuroophthalmologische Aspekte kindlicher Tumorerkrankungen.

Pediatric oncology has achieved major progress by continuous optimization of diagnostic and therapeutic approaches. In the interdisciplinary team, the ophthalmologist plays an important role. In the field of strabismus and neuro-ophthalmology clinical symptoms as strabismus, visual loss, anisocoria, visual field defects, and involuntary eye movements may be key indicators of childhood cancer. The appropriate diagnostic workup as well as the diagnostic and therapeutic steps during the course of the disease are important often requiring individually tailored approaches.

[Postoperative Follow-Up of Glaucoma Drainage Devices]. / Nachsorge von epibulbären Glaukomdrainageimplantaten.

There is an increasing trend towards using glaucoma drainage implants. The postoperative management of such devices depends on their technical characteristics and specific complications. The Baerveldt glaucoma implant with its larger surface area has been shown to lower mean intraocular pressure more effectively than the Ahmed-FP7 implant. As a non-valve implant, however, it has been associated with a higher rate of severe complications, particularly ocular hypotension. Moreover, glaucoma implants may induce diplopia if they interfere with extraocular muscles. Topical treatment with antibiotics and steroids is necessary in cases of intraocular inflammation. In refractory cases, the tube may even have to be removed. Surgical reposition of the tube may be indicated when it is severely dislocated. Increased intraocular pressure is primarily treated by pressure-lowering medications during postoperative follow-up. If topical glaucoma medication is insufficient to control increases in intraocular pressure due to encapsulation, a second implant may be considered or the capsule surrounding the implant may be excised to reduce outflow resistance or additional cyclodestructive procedures can be performed. Chronic hypotension may be treated with tube ligation or occlusion. Severe corneal oedema may require lamellar keratoplasty. Conjunctival erosions with tube exposure or tube retractions also require surgical correction.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal dystrophy, typically manifesting in the first year of life. Mutations in more than 18 genes have been reported to date. In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 have been found to cause LCA. PURPOSE: To broaden the knowledge regarding the phenotype of NMNAT1-associated LCA. METHODS: Clinical ophthalmologic examinations were performed in two sisters with LCA. Whole exome sequencing was performed in one of the affected girls, with subsequent segregation analysis in the affected sister and unaffected parents. The literature was reviewed for reports of NMNAT1-associated LCA. RESULTS: Exome sequencing revealed the known NMNAT1 mutation c.25G>A (p.Val9Met) in a homozygous state. Segregation analysis showed the same homozygous mutation in the affected younger sister. Both parents were found to be heterozygous carriers of the mutation. The two girls both presented with severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated. Both children were hyperopic. In the older sister, differential diagnosis included an inflammatory origin, but electrophysiology in her as well as her sister confirmed a diagnosis of LCA. Pallor of the optic nerve head was not present at birth but developed progressively. CONCLUSIONS: We confirmed a diagnosis of NMNAT1-associated LCA in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state. In infants with non-detectable electroretinogram (ERG), along with severe congenital visual dysfunction or blindness and central pigment epithelium atrophy with pigment clumping resembling scarring due to chorioretinitis, LCA due to NMNAT1 mutations should be considered.

Generation of spectrally stable continuous-wave emission and ns pulses with a peak power of 4 W using a distributed Bragg reflector laser and a ridge-waveguide power amplifier.

We have developed a diode-laser based master oscillator power amplifier (MOPA) light source which emits high-power spectrally stabilized and nearly-diffraction limited optical pulses in the nanoseconds range as required by many applications. The MOPA consists of a distributed Bragg reflector (DBR) laser as master oscillator driven by a constant current and a ridge waveguide power amplifier (PA) which can be driven by a constant current (DC) or by rectangular current pulses with a width of 5 ns at a repetition frequency of 200 kHz. Under pulsed operation the amplifier acts as an optical gate, converting the CW input beam emitted by the DBR laser into a train of short amplified optical pulses. With this experimental MOPA arrangement no relaxation oscillations occur. A continuous wave power of 1 W under DC injection and a pulse power of 4 W under pulsed operation are reached. For both operational modes the optical spectrum of the emission of the amplifier exhibits a peak at a constant wavelength of 973.5 nm with a spectral width < 10 pm.

[Medial rectus tendon elongation with bovine pericardium for type 1 Duane's retraction syndrome]. / M.-rectus-internus-Sehnenverlängerung mit bovinem Perikard bei Duane-Retraktionssyndrom Typ 1.

BACKGROUND: Some patients with esotropic Duane's retraction syndrome (type 1) adopt a head turn to gain binocular vision. For some patients recession of the ipsilateral medial rectus muscle is not sufficient to eliminate head turn and squint angle. Surgery with tendon elongation allows the correction of larger angles and maintains a sufficient arc of contact. We report our results and experience. METHODS: We retrospectively reviewed the medical records of 10 patients with unilateral, esotropic Duane syndrome type 1 who had tendon elongation with bovine pericardium to correct a head turn or squint angle. Two patients had primary surgery with tendon elongation due to preoperative excessive angles, eight patients had tendon elongations as secondary procedures. Nine of the patients had their follow-up examination at least six weeks after surgery. RESULTS: The median preoperative angle of squint in primary position was + 27.5 pdpt, the median postoperative angle + 0 pdpt. The median dose effect relation for secondary interventions was 2.4 pdpt reduction of squint angle/mm surgery, for one patient with primary surgery and long-term follow-up 2.75 pdpt/mm. The median, preoperative head turn of seven patients with preoperative binocular functions was 20°. Postoperatively, six patients with long-term follow-up showed a median head turn of 0°. The median dose-effect relation was 3.3° reduction of head turn/mm surgery. All nine patients with long-term follow-up had a maximal head turn of 10°, six of the patients had no persisting head turn. Binocular functions were stable or better than preoperatively. CONCLUSIONS: For patients with retraction syndrome type 1, tendon elongation of the medial rectus muscle using Tutopatch® is a good option for secondary interventions or excessive preoperative squint angle or head turn.

Inferior rectus muscle recession as a treatment for vertical diplopia following cataract extraction.

BACKGROUND: Persistent vertical diplopia may occur after cataract surgery as a rare complication of retro- or parabulbar anesthesia. This is probably caused by structural changes in the muscles, altering muscular elasticity and function and thus complicating setting of the dosage for corrective strabismus surgery. The aim of our study was to investigate the effect of strabismus surgery in this specific motility disorder. METHODS: The findings from 15 consecutive patients (six women, nine men, median age 76 years), who had undergone initial strabismus surgery in our eye clinic between 2007 and 2010 due to vertical diplopia following cataract surgery, were investigated retrospectively. In all cases, cataract surgery had been performed under retro- or parabulbar anesthesia. RESULTS: Preoperatively, all affected eyes (five right eyes, ten left eyes) showed hypotropia with elevation deficiency and overaction of the inferior rectus muscle and/or superior oblique muscle on down-gaze. The median vertical deviation in primary position was 9.1 deg (min. 4.6, max. 24.7), measured with the alternate prism cover test, and 8 deg (min. 3.5, max.18) at the tangent screen of Harms. In all cases, the inferior rectus muscle was recessed 3 to 6 mm (median 3.5 mm). On the first day after surgery, the median angle of squint in primary position was 2.3 deg (min. 0, max. 10.2), when measured with the alternate prism cover test, with a mean dose-effect relationship of 1.8 ± 0.7 deg angle reduction per millimetre recession (median 1.9 deg/mm). In the postoperative period, eight patients examined after 2 to 20 months (median 3.5 months) showed a median vertical deviation of 5.7 deg (min. 1.7, max. 11.3), with a mean dose-effect relationship of 1.7 ± 1.3 deg/mm (median 1.8 deg/mm), but the values ranged widely. Four patients were not examined but interviewed by telephone. There was no feed-back from three patients. Six of 12 follow-up patients had no complaints, three had prisms to correct a persisting angle, and three patients needed further squint surgery. CONCLUSIONS: The efficacy of inferior rectus muscle recession for correction of hypotropia following cataract surgery with local anesthesia ranged widely. In this condition, operating on one muscle is a good option for correction of squint angles of less than 12 deg. Squint angle enlargement can occur in the postoperative course, and may necessitate further surgery.

96 mW longitudinal single mode red-emitting distributed Bragg reflector ridge waveguide laser with tenth order surface gratings.

Red-emitting ridge waveguide lasers with integrated tenth order surface distributed Bragg reflector gratings were developed. The grating was implemented by the use of a BCl3-Ar-plasma, while the shape of the grating trench was controlled by additional He-backside cooling of the wafer. The devices exhibit longitudinal single mode operation up to 96 mW at 635.3 nm with a side mode suppression ratio of 18 dB and a good beam quality of M2<3. The spectrum is free of mode hops for a span of more than 55 pm.

Functional states of mandibular movements and synovial pumps of the temporomandibular joint. Is it possible to provide a biomechanically correct replacement for the TMJ?

Due to its complexity, there is currently an incomplete understanding of temporomandibular joint (TMJ) function, especially in relation to the morphological interplay of the condyle and the disc as well as the disc, the Os temporale and the lateral pterygoid muscle. This also holds true for synovial flow and synovial pumps, the existence of which we postulate and for which we present a theory of their mechanism. In view of the complexity of mandibular movements and the morphology and function of the TMJ, we need to know how precisely a reconstruction of the TMJ, if necessary, must be adapted to nature. An analysis of the morphology of the functional states of the mandible, as well as the synovial pump system, should at least provide a basis for moulding reconstructions.

[Case report on OCT findings in a patient with hereditary optic neuropathy and a patient with autosomal dominant optic atrophy]. / Kasuistik über OCT-Befunde bei einem Patienten mit Leberscher hereditärer Optikusneuropathie und einem Patienten mit autosomal dominanter Optikusatrophie.

BACKGROUND: Hereditary optic neuropathies lead to a decrease in visual acuity corresponding to a reduction of the ganglion cell layer and the nerve fibre layer. The most common neuropathies, Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), are mitochondrial disorders. CASE REPORT: We describe two cases, one with LHON and one with ADOA, and demonstrate the decrease in thickness of the ganglion cell layer using spectral domain OCT (optical coherence tomography). RESULTS: In the case with LHON, the ganglion cell layer and the nerve fibre layer showed a considerable reduction from the initial occurrence of symptoms to the 1? years follow-up examination. In the patient with ADOA, the atrophy of the ganglion cell layer and the nerve fibre layer was clearly visible on OCT corresponding to the poor visual acuity of the patient. CONCLUSIONS: Spectral domain OCT instruments allow for high resolution imaging and quantitative analysis of the various retinal layers. Using this technology, it is possible to distinguish between retinal disorders of the outer retinal layers and disorders of the inner retinal layers, like in our cases with LHON and ADOA.

[Neuro-ophthalmological and ophthalmological findings in Joubert syndrome]. / Neuroophthalmologische und ophthalmologische Befunde beim Joubert-Syndrom.

BACKGROUND: Joubert syndrome (JS) belongs to the ciliopathies and is a mostly autosomal recessively inherited disease (in the case of OFD1 mutations, JS is an X-linked trait). It is characterised by midbrain-hindbrain malformations with developmental delay, hypotonia and ataxia and a broad spectrum of other facultative findings. The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies. METHODS: In a retrospective study we evaluated the ophthalmological and neuro-ophthalmological findings of 9 consecutive patients who met the diagnostic criteria of JS. RESULTS: All patients had abnormalities of ocular motility, 4/9 used head thrusts to shift gaze (oculomotor apraxia OMA). In 6/8 patients, the optokinetic reflex (OKN) was absent. Furthermore, 8/9 children showed nystagmus, mostly see-saw nystagmus. Manifest strabismus was found in 8/9 while 3/9 had a retinopathy with either abnormal ERG and/or fundus appearance with or without visual impairment. Chorioretinal colobomata were present in 5/9 cases. Two patients showed a unilateral congenital ptosis, one a facial nerve paresis. CONCLUSIONS: The early neuro-ophthalmological findings in JS are not pathognonomic, but may lead to the diagnosis of JS. The syndrome should be suspected in patients with nystagmus, especially see-saw nystagmus, and abnormal OKN and/or OMA, and/or colobomata of the fundus, and further paediatric examinations should be initiated.

[Surgical options for eye muscle surgery in third nerve palsy]. / Augenmuskelchirurgische Differenzialtherapie bei Okulomotoriusparesen.

Uni- or bilateral third nerve palsies account for about one third of cranial nerve palsies affecting ocular motility. Due to the large nuclear complex of the third nerve and due to the multiple effector muscles of the third nerve, incomplete palsies are common. When conservative treatment is insufficient and a potential remission did not occur, surgical intervention on the extraocular muscles may be indicated to reduce diplopia, establish a field of binocular single vision or relieve annoying head postures or improve the patient's appearance. Standard procedures in strabismus surgery such as simple recessions or strengthening procedures often do not yield permanent effects under the conditions of third nerve palsies so that transposition procedures may be required. Special considerations in individual indications, e. g., concerning binocular prognosis, possible misinnervation and potential accompanying fourth nerve palsy are discussed in general and illustrated with case reports.

[Bilateral modified Hummelsheim procedure in severe bilateral abduction deficiency]. / Muskeltransposition modifiziert nach Hummelsheim bei bilateralen Abduktionseinschränkungen.

BACKGROUND: Bilateral sixth nerve paralysis is a rare motility disturbance. The functional and cosmetic problems, operative management and postoperative outcome in three patients are presented. MATERIAL AND METHODS: We report on the pre- and postoperative findings of three patients who in one operative session received bilateral transposition surgery in modification of the Hummelsheim procedure. RESULTS: All three patients postoperatively showed good cosmetic results with no significant head posture for far and near fixation. The abduction deficiency was reduced. In one case a field of binocular single vision at far fixation was established. This field was positioned centrally and measured 15 degrees in diameter. No intraoperative or postoperative complications occurred. CONCLUSION: Simultaneous bilateral transposition surgery as a modified Hummelsheim procedure can reduce head turn in patients with severe bilateral abduction deficiencies and may reestablish limited binocular single vision. In regard to their psycho-social interactions, the patients benefit from the diminished angle of squint.

High-power 808 nm ridge-waveguide diode lasers with very small divergence, wavelength-stabilized by an external volume Bragg grating.

We present data on ridge-waveguide diode lasers having a vertical far-field divergence of only 11.5 degrees (FWHM) owing to an appropriate waveguide design. The lasers emitted an optical power of more than 1 W into the spatial fundamental mode from a ridge width of 5 microm. The emission wavelength was stabilized to a narrow range around 808 nm by placing a volume Bragg grating in front of the outcoupling facet.

Kestenbaum procedure on the vertical rectus muscles with simultaneous compensation of the induced cyclodeviation for nystagmus patients with chin-up or chin-down head posture.

BACKGROUND: Kestenbaum surgery is performed for nystagmus-related abnormal head posture, and symmetrically changes the position of both eyes to shift the null point to the primary position. Most patients with infantile nystagmus have their null point zone in a lateral gaze position. Less frequently, surgery can be performed to reduce chin-up or chin-down head posture. We report indications for, and the results of eight consecutive interventions performed according to the Kestenbaum principle for the reduction of a chin-up or chin-down head posture. METHODS: In a retrospective study, the clinical findings for eight patients who consecutively underwent treatment in the University Eye Hospital of Cologne between 2001 and 2007 were investigated. The patients were aged 6 to 16 years; median age was 6.5 years. For all patients, surgery was to correct a chin-up or chin-down head posture due to infantile nystagmus. Preoperatively, five patients showed a chin-down, three a chin-up head posture. All vertical rectus muscles were recessed or tucked between 6 and 7 mm; the resulting cyclodeviation was reduced by an intervention on the superior oblique muscles (6 to 8 mm tucking, in the case of chin-down, or recession in the case of chin-up head posture). RESULTS: Surgery was successful in seven of the eight patients, with a reduction of the vertical head posture to less than 10 degrees. In the cases of chin-down posture, head posture was reduced to between 0 degrees and a maximum of 20 degrees in one case postoperatively (before the operation 20 degrees to 35 degrees ); in the cases of chin-up posture, to less than 8 degrees (before the operation 25 degrees to 35 degrees). One case showed no postoperative improvement in chin-down posture but a head turn to the left of up to 20 degrees; another case had a remaining chin-up posture of 8 degrees with a right turn of 15 degrees . Binocular vision was better or the same in all cases after surgery. CONCLUSION: For nystagmus patients with chin-up or chin-down head posture, surgery for bilateral parallel shifting of the eyes can considerably improve the head posture. It is possible to compensate the induced cyclodeviation at the same time by bilateral surgery on the superior oblique muscles.