[Differential diagnosis of vertical strabismus in the elderly]. / Differenzialdiagnose der Vertikaltropie im Senium.

Due to the demographic changes, the number of older patients in ophthalmological practices and clinics, including those with diplopia, is increasing. Some of the patients report not only horizontally shifted double images but also or only vertically shifted double images. Vertical double vision often causes significant diagnostic problems for ophthalmologists. The underlying condition could urgently require further neurological, neuroradiological and/or internal medical diagnostics (e.g., skew deviation, 4th nerve palsy, myasthenia, Graves' orbitopathy, orbital floor fracture, orbital mass, 3rd nerve palsy) but the cause of diplopia could also be a condition in which overdiagnosis should be avoided (e.g., sagging eye syndrome, the prevalence of which significantly increases with increasing age; decompensated strabismus due to inferior oblique muscle overaction, myopia-associated vertical tropia). For some diseases early diagnosis is important for a better prognosis, e.g., tumor diagnosis, Graves' disease and stroke. This article presents an overview of the most common and most important differential diagnoses of vertical tropia in patients over 50 years of age.

Visual complaints in pregnancy: (pre)eclampsia as a chameleon.

Objective: The visual system often is affected in patients with preeclampsia and even more in cases of eclampsia, a life-threatening pregnancy complication. Symptoms include blurred vision and deterioration of visual acuity. Pregnancy can also affect pre-existing conditions, such as diabetic retinopathy. In this case series, we describe three patients with the same underlying condition, i.e. (pre)eclampsia who experienced acute visual disturbance whereas the final diagnosis was different: disseminated intravascular coagulopathy (DIC), posterior reversible encephalopathy syndrome (PRES), and diabetic retinopathy. Methods and results: All patients underwent a thorough slit lamp examination and ocular coherence tomography (OCT). All patients presented with acute impaired vision and subretinal fluid and-/or fibrin. Conclusions: These cases highlight the importance of early involvement of ophthalmologists when pregnant women complain about visual disorders.

Prism adaptation test before strabismus surgery in patients with decompensated esophoria and decompensated microesotropia.

PURPOSE: To evaluate the effect of Prism adaptation test (PAT) on the angle of squint in decompensated esophoria (decEPH) and decompensated microesotropia (decMET). METHODS: In this single-center retrospective study we reviewed the medical records of patients with the diagnosis of decEPH or decMET, aged at least 12 years, who were treated by strabismus surgery for the first time. The maximum Angle of squint (AOS) for far (F) and near (N) fixation and PAT results before surgery, as well as AOS (F) and AOS (N) after surgery and results of binocular function tests were considered. PAT included wearing a prism based on the largest angle for over 60 min. RESULTS: 100 patients (mean age 37 ± 17 years) were included in the decEPH group, 82 patients (mean age 30 ± 13 years) in the decMET group. For decEPH, before surgery AOS was 25.5 ± 8.8 pdpt (F) and 23.5 ± 9.8 pdpt (N). During PAT the AOS increased significantly by 2.7 ± 4.3 to 28.2 ± 8.6 pdpt (F) and by 4.9 ± 4.5 to 28.3 ± 9.5 pdpt (N). Altogether, in 82% of decEPH patients AOS (F) and/ or AOS (N) in- or decreased by at least 3 pdpt. For decMET, before surgery AOS was 28.6 ± 10.8 pdpt for far (F) and 30.9 ± 11.8 pdpt for near fixation (N). During PAT the AOS increased significantly by 4.2 ± 5.8 to 32.5 ± 9.5 pdpt (F) and by 3.7 ± 6.1 to 34.4 ± 9.5 pdpt (N). Altogether, in 51% of decMET patients, AOS (F) and/ or AOS (N) increased by at least 10 pdpt, therefore more than 5° which would have been maximally expected from mictrotropia, or decreased by at least 3 pdpt. CONCLUSIONS: The Prism adaptation test (PAT) showed remarkable changes in AOS in both decEPH and decMET. In patients with decEPH, the preoperative assessment of the "true AOS" under PAT reflects a pivotal requirement for successful strabismus surgery, as 82% had dose relevant angle changes ≥ 3 pdpt. For patients with decMET the preoperative prism adaptation test is especially of diagnostic value, but also 51% of decMET patients had changes in AOS beyond the expected microtropic angle (≥ 10 pdpt) or even a dose relevant angle decrease (≥ 3pdpt).

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Infantile nystagmus syndrome (INS) denominates early-onset, involuntary oscillatory eye movements with different etiologies. Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in melanin synthesis or melanosome biogenesis. Dopachrome tautomerase (DCT, also called TYRP2) together with tyrosinase (TYR) and tyrosin-related protein 1 (TYRP1) is one of the key enzymes in melanin synthesis. Although DCT´s role in pigmentation has been proven in different species, until now only mutations in TYR and TYRP1 have been found in patients with OCA. Detailed ophthalmological and orthoptic investigations identified a consanguineous family with two individuals with isolated infantile nystagmus and one family member with subtle signs of albinism. By whole-exome sequencing and segregation analysis, we identified the missense mutation c.176G > T (p.Gly59Val) in DCT in a homozygous state in all three affected family members. We show that this mutation results in incomplete protein maturation and targeting in vitro compatible with a partial or total loss of function. Subsequent screening of a cohort of patients with OCA (n = 85) and INS (n = 25) revealed two heterozygous truncating mutations, namely c.876C > A (p.Tyr292*) and c.1407G > A (p.Trp469*), in an independent patient with OCA. Taken together, our data suggest that mutations in DCT can cause a phenotypic spectrum ranging from isolated infantile nystagmus to oculocutaneous albinism.

Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy.

BACKGROUND: For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger angles and maintains a sufficient arc of contact for rectus muscles. This study reports results for tendon elongation with bovine pericardium (Tutopatch®) in indications other than Graves' orbitopathy in which it is already widely used. METHODS: We reviewed the records of all patients who underwent surgery with Tutopatch® in our institution. Angles of squint and head postures were analyzed preoperatively, on the first postoperative day, and in the long term (median 9 weeks after the operation). Patients with Graves' orbitopathy were excluded. RESULTS: From 2011 to 2018, the procedures on 58 eyes of 54 patients (35 females, median age 35 years (3-75)) met the inclusion criteria. Horizontal rectus muscle surgery (53 eyes) was conducted on patients with residual strabismus (13), Duane's retraction syndrome with eso- (type I: 16)/exodeviation (type II: 2, type III: 1), 6th (7)/3rd nerve palsy (7), Möbius syndrome (2), congenital fibrosis of the extraocular muscles type 3A (CFEOM3A, TUBB3 mutation) (4), and orbital apex syndrome (1). Vertical rectus muscle surgery (5 eyes) was conducted on patients with myasthenia (1), vertical tropia after orbital floor fracture (1), CFEOM1 (2), and Parry-Romberg syndrome (1). 42 eyes had prior eye muscle surgery (1-5 procedures, median 1). Out of 45 patients with postoperative long-term data, 43 showed an angle reduction. Fifty-one percent had an angle of 10Δ (prism diopter) or less, one had a significant over-effect, and 10 had revision surgery. For the heterogeneous group of residual eso- and exotropias, the median absolute horizontal angle was reduced from 35Δ (16 to 45Δ) to 9Δ (0 to 40Δ), for Duane's retraction syndrome from 27.5Δ (9 to 40Δ) to 7Δ (0 to 40Δ), and for sixth and third nerve palsies from 43Δ (20 to 75Δ) to 18Δ (4 to 40Δ). For 3 patients with vertical rectus muscle surgery, the median absolute vertical angle was reduced from 30Δ (20 to 45Δ) to 4Δ (1 to 22Δ). The motility range was shifted in the direction contrary to the elongated muscle in all subgroups. A considerable reduction of the excursion into the field of action of the elongated muscle had to be registered. CONCLUSIONS: Strabismus surgery with bovine pericardium introduces new surgical options for complicated revisions and for rare and complex oculomotor dysfunctions. Yet, it has to be recognized that this type of surgery aiming at maximum effects, despite preservation or restitution of the arc of contact, leads to reduction of the excursion into the field of action of the elongated muscle. Furthermore, dose finding can be difficult depending on the underlying pathology and more than one intervention might be necessary for optimal results.

Differential Diagnosis of Acquired Esotropia in the Elderly. / Differenzialdiagnose der erworbenen Esotropie im Alter.

AIM: To provide an overview of the differential diagnoses of acquired esotropia that occur in the elderly and to facilitate their differentiation in everyday clinical practice. METHODS: The data of all patients who presented in our outpatient university department for strabology and neuroophthalmology from March 2014 to October 2015 due to esotropia with diplopia with onset after age 50 were evaluated retrospectively. Exclusion criteria were a known strabismus before the age of 50 and/or vertical deviations in the primary position. Anamnestic characteristics, accompanying findings and orthoptic parameters, were analysed. RESULTS: 85 patients were included in the study, 42 of them female and 43 male. The following diagnoses were made: abducens nerve palsy (n = 34, 3 of them both sides), esotropia due to myopia magna (n = 12), esotropia with accompanying neurological symptoms (n = 6) and other etiology (n = 5). In 4 cases, the diagnosis was still unclear at the end of the study. In 24 patients, none of the above diagnoses existed and the diagnosis of "sagging eye syndrome" (ETSAG) was made. The abducens nerve palsy typically showed a sudden onset of double vision, slowed abduction saccades and asymmetrical abduction ability. With unilateral abducens nerve palsy, the esotropia increased continuously from the view to the unaffected side through the primary position to the view to the affected side. Patients with ETSAG and myopia-associated esotropia, on the other hand, reported a gradual onset of double vision, showed normal abduction saccades and a slightly reduced abduction ability. The squint angle often increased slightly to both sides. Esotropia with accompanying neurological symptoms was rare and was seen in various underlying diseases. CONCLUSIONS: The kind of onset of the double vision, the quality of the saccades, the incomitance pattern and the ability to abduct are important parameters for the etiological assignment of an esotropia in the elderly. The characteristics of the individual diagnoses are described and differential diagnostic aspects are discussed.

[Efficacy of Vertical Muscle Transpositions with and without Simultaneous Rectus Muscle Recession for Unilateral Sixth Nerve Palsy]. / Effekt von Muskeltranspositionen nach dem Hummelsheim-Prinzip mit und ohne zeitgleiche Rücklagerung des M. rectus internus.

BACKGROUND: We report results of a modified vertical muscle transposition procedure according to the Hummelsheim principle - with and without simultaneous rectus muscle recession - for unilateral sixth nerve palsy. We examine the influence of the duration of the palsy, preoperative angle of squint and preoperative abductive capacity on surgical results of the procedures. PATIENTS AND METHODS: Retrospective study of 29 consecutive patients with unilateral abducens nerve palsy who underwent surgery between 2001 and 2012. 21 patients had a modified vertical rectus muscle transposition according to the Hummelsheim principle (HUM); 8 patients had this operation combined with simultaneous medial rectus muscle recession (HUM+I). Surgery was performed at least 9 months after onset of the palsy (HUM: 9 to 98, median 19, mean 30 months; HUM+I: 12 to 65, median 25, mean 29 months). RESULTS: The median preoperative angle of squint (far distance) for the HUM group was 27.0° (20.0 to 45.0; mean 28.1°), and for the HUM+I group 30.5° (21.8 to 50.0; mean 33.4°). The median preoperative abductive capacity was for - 1,6 mm before midline (- 8.0 to + 1.2; mean - 1.8 mm) for the HUM group, and - 3.0 mm before midline (- 10.0 to - 1.0; mean - 4.1 mm) for the HUM+I group. The median postoperative angle of squint (far distance) was 0° (- 11.3 to + 20.0; mean 0.1°) for the HUM group, and - 2.3° (- 11.3 to + 12.0; mean - 2.1°) for the HUM+I group. The median postoperative abductive capacity was 1.0 mm (0 to + 3.0; mean + 1.1 mm) for the HUM group, and 1.1 mm (- 1.2 to + 3.0; mean + 0.9 mm) for the HUM+I group. The median reduction of squint angle was 27.0° (9.1 to 45.0; mean 28.0°) for the HUM group, and 36.8° (25.2 to 41.4; mean 35.5°) for the HUM+I group. The median effect on abductive capacity was 2.5 mm (0 to 11.0; mean + 2.9 mm) for the HUM group, and 4.6 mm (2.4 to 8.8; mean + 5.0 mm) for the HUM+I group. In the HUM group, the effect on squint angle reduced with the duration of the palsy, whereas, in the HUM+I group, the effect improved with the duration of the palsy. CONCLUSIONS: For patients with unilateral sixth nerve palsy, simultaneous medial rectus recession increases the effect of modified vertical rectus muscle surgery according to the Hummelsheim principle. The duration of the palsy is a relevant parameter for the selection of a sole or combined intervention with medial rectus recession.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function. In a five-generation pedigree, we identified a heterozygous mutation of TUBB6, a gene encoding a class V tubulin which has not been linked to a human hereditary disease so far. The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis. Expression of the mutated protein in yeast led to an impaired viability compared to wildtype cells when exposed to the microtubule-poison benomyl. Our findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy. Further studies are needed to verify whether this phenotype is indeed part of the CCDD spectrum.

Ophthalmological manifestations of Parry-Romberg syndrome.

Parry-Romberg syndrome is a rare disease characterized by slowly progressive atrophy affecting facial subcutaneous tissues, including the underlying muscles and osteocartilaginous structures. Various periocular, ocular, and neuro-ophthalmological manifestations have been described in Parry-Romberg syndrome. The most common periocular disorders include enophthalmos, eyelid, and orbit alterations. The most frequent ocular disorders include corneal and retinal changes, and the most common neuro-ophthalmological disorders involve optic nerve, ocular motor and pupillary dysfunction. Besides the characteristic facial abnormalities, systemic manifestations may occur, including neurologic, dermatologic, cardiac, endocrine, infectious, orthodontic, and maxillofacial disorders. So far, mainly brief case reports describe these ophthalmological findings. Therefore, we summarize the ocular, periocular, and neuro-ophthalmological findings in detail, describe diagnostic modalities, and outline therapeutic options.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Knockdown of Poc1b in zebrafish caused cystic kidneys and retinal degeneration with shortened and reduced photoreceptor connecting cilia, compatible with the human syndromic ciliopathy. A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy. The phenotype associated with homozygous p.Arg106ProPOC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. Our study indicates that POC1B is required for retinal integrity, and we propose POC1B mutations as a probable cause for JBTS with severe PKD.

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.

SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations.

PURPOSE: To specify thickness values of various retinal layers on macular spectral domain Optical Coherence Tomography (SDOCT) scans in patients with autosomal dominant optic atrophy (ADOA) compared to healthy controls. METHODS: SDOCT volume scans of 7 patients with ADOA (OPA-1 mutation) and 14 healthy controls were quantitatively analyzed using manual grading software. Mean thickness values for the ETDRS grid subfields 5-8 were calculated for the spaces neurosensory retina, retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), a combined space of inner plexiform layer/outer plexiform layer/inner nuclear layer (IPL+INL+OPL), and a combined space of outer nuclear layer/photoreceptor layers (ONL+PL). RESULTS: ADOA patients showed statistically significant lower retinal thickness values than controls (P < 0.01). RNFL (P < 0.001) and GCL thicknesses (P < 0.001) were significantly lower in ADOA patients. There was no difference in IPL+INL+OPL and in ONL+PL thickness. CONCLUSION: Manual subanalysis of macular SDOCT volume scans allowed detailed subanalysis of various retinal layers. Not only RNFL but also GCL thicknesses are reduced in the macular area of ADOA patients whereas subjacent layers are not involved. Together with clinical findings, macular SDOCT helps to identify patients with suspicion for hereditary optic neuropathy before genetic analysis confirms the diagnosis.

Kestenbaum procedure with combined muscle resection and tucking for nystagmus-related head turn.

BACKGROUND: Literature has dealt extensively with dose-effect relations for recess-resect procedures for correction of horizontal nystagmus-related head turn. However, muscle tucking procedures have some advantages compared to resection procedures. Aim of this study was to evaluate dose-effect relations of Kestenbaum surgery with symmetrical combined recession and tucking (instead of resection) of the horizontal rectus muscles for the reduction of a nystagmus-related head turn. METHODS: In a retrospective study, clinical findings of 42 patients who consecutively underwent treatment in our institution between 2000 and 2011 were investigated. The patients were aged 4-57 years (median age 6 years). For all patients, surgery aimed to correct a horizontal head turn (to the right: 18 patients) due to infantile nystagmus. The head turn was measured with a goniometer with the patient fixing the smallest age-appropriate target distinguishable for the patient. RESULTS: The median absolute head turn before surgery was 30° (min. 15°, max. 45°). The four horizontal rectus muscles were recessed or tucked between 5.5 and 10 mm, median 9 mm. All four muscles were recessed or tucked for the same amount. At the first postoperative day, the median dose-effect relation was 1.88° reduction of head turn per millimeter surgery on one eye (min. 0.5°/mm, max. 3.2°/mm). The median head turn was 0° (min. -20°, max. 15°). Surgery was considered successful in 88% of the patients with a reduction of the head turn to max. 10°. Data of 36 patients were available for the long-term postoperative period (median 1.5 years; min. 6 weeks, max. 11 years). The median head turn was 10° (min. -16°, max. 30°). The median dose-effect relation was reduced to 1.35°/mm per eye (min. 0°/mm, max. 2.9°/mm). Surgery was considered successful in 72 % of the patients with a reduction of the head turn to max. 10°. Three patients showed an overcorrection with a head turn of 8°, 15° and 16° to the other side. A squint has not been induced. CONCLUSIONS: The dose-effect relation for Kestenbaum surgery with symmetrical combined recession and tucking of the horizontal rectus muscles is comparable to the dose-effect relation reported by other authors for symmetrical combined recession and resection.

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

PURPOSE: Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene. METHODS: Four patients (aged 6 months to 13 years), two of them siblings, with features of horizontal gaze palsy and their parents were examined clinically and by molecular testing of the ROBO3 gene. The three families were unrelated, but parents in each family were consanguineous. RESULTS: We identified three novel homozygous ROBO3 mutations in four patients with typical ophthalmologic signs of HGPPS. We found an exonic insertion/deletion mutation (c.913delAinsTGC; p.Ile305CysfsX13), a 31 bp deletion including the donor splice site of exon 17 and adjacent exonic and intronic sequences (c.2769_2779del11, 2779+1_+20del20), and a missense mutation located next to a splice donor site (c.3319A>C) resulting in skipping of exon 22, as shown by cDNA analysis. CONCLUSIONS: We describe three novel mutations in the ROBO3 gene and the detailed clinical phenotype of HGPPS. One patient displayed marked convergence upon attempting smooth pursuits to both sides. In one patient, the typical ophthalmologic phenotype, the neuroradiologic findings, and molecular testing led to the diagnosis even before scoliosis developed. In addition to the typical magnetic resonance imaging brain signs of HGPPS, this patient had marked hypoplasia of the frontal lobes and corpus callosum. In summary, diagnosis of HGPPS may be established by ophthalmologic and molecular investigation early in life, allowing ongoing orthopedic surveillance from an early stage.

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

BACKGROUND: Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders. METHODS: Altogether, 29 patients with different congenital ocular motility disorders and a positive family history of congenital ocular motility disturbances or strabismus or bilateral affection or accompanying congenital disorders were enrolled in this study. DNA samples of patients suffering from DRS (n = 5), Brown syndrome (n = 13), other congenital motility disorders of the oblique eye muscles (n = 6), double elevator palsy (n = 4), and vertical retraction syndrome (n = 1) were investigated by direct sequencing of all coding exons of CHN1. RESULTS: In the families of our index patients with DRS, other family members displayed DRS, see-saw nystagmus, infantile esotropia, microtropia, or Brown syndrome, respectively. In the families of our patients with cases of Brown syndrome, bilateral abduction deficiency, infantile esotropia, and unspecified strabismus occurred. The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than Brown syndrome had relatives with ptosis, infantile esotropia, DRS, congenital abduction deficiency, and unspecified forms of strabismus. Thus a considerable intrafamilial overlap between different types of congenital forms of motility disorders and strabismus does exist. No mutations were detected in the CHN1 gene in our patients. In addition to known polymorphisms, we identified four novel heterozygous single-nucleotide substitutions, one in the 5'UTR, two in intronic regions, and one in the coding region leading to a synonymous amino acid substitution. CONCLUSIONS: We found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane's retraction syndrome and provide further evidence for genetic heterogeneity in familial forms of DRS.

Sinuorbital complications after intranasal cocaine abuse.

Proptosis and double vision were the presenting signs in a case of chronic orbital inflammation generated by osteolytic destruction of the sinuorbital barriers due to intranasal abuse of cocaine. The pathophysiologic background and reports from the literature dealing with orbital involvement in this condition are discussed.

A cost-effectiveness model of screening strategies for amblyopia and risk factors and its application in a german setting.

PURPOSE: To develop a general setting-independent decision-analytical model that determines the costs, effectiveness, and cost-effectiveness of four screening strategies to detect amblyopia or amblyogenic factors in pre-school children and to apply the model in a German setting. METHODS: The general setting-independent decision-analytical model was developed from the perspective of society and the statutory health insurance was developed. Outcomes were the total number of newly detected true positive cases of amblyopia and the costs per newly detected true positive case of amblyopia. Strategies were screening of high-risk children up to the age of 1 year (ophthalmologists), screening of all children up to the age of 1 year (ophthalmologists), screening of all children aged 3 to 4 years (pediatricians or general practitioners), and screening of children aged 3 to 4 years visiting kindergarten (orthoptists). For the application example in a German setting, data from the published medical literature were used. RESULTS: In the base-case analysis of the application example, screening high-risk children by ophthalmologists had the lowest average cost per case detected but became dominated (less effective and more costly than an alternative) if a low (5.3%) probability of familial clustering of strabismus was assumed. Considering the various assumptions tested in the sensitivity analysis, screening of all children up to the age of 1 year by ophthalmologists was the only strategy not dominated by others. Detection rates, including cases detected before screening, were between 72% and 78% for the strategies that screen for all children. CONCLUSIONS: The model suggests that in Germany, both from a cost-effectiveness and a pure effectiveness point of view, screening all children up to the age of 1 year by ophthalmologists is the preferred strategy to detect amblyopia or amblyogenic factors. All strategies left a significant portion of children undetected.

Ocular neuromyotonia: a case report.

Ocular neuromyotonia is a rare motility disorder occurring after tumor irradiation near the skull base or as a consequence of vascular abnormalities. Ocular myasthenia, convergence spasm and a cyclic third nerve palsy must be considered as differential diagnoses. The case of a 32-year-old woman suffering from intermittent diplopia six months after radiation therapy of a recurrent pituary gland adenoma is presented.

Macular translocation with 360 degrees retinotomy for exudative age-related macular degeneration.

BACKGROUND: Macular rotation surgery comprises surgical extraction of choroidal neovascular membranes in age-related macular degeneration (AMD) and translocation of the foveal neural retina over adjacent retinal pigment epithelium. OBJECTIVE: To determine whether macular translocation with 360 degrees retinotomy can stabilize and/or improve visual acuity in patients with subfoveal choroidal neovascularization (CNV) secondary to AMD. DESIGN: This study consisted of a standardized surgical procedure on a series of 90 consecutive patients and follow-up examinations at fixed intervals for 12 months. PARTICIPANTS: All patients in this study had experienced recent visual loss resulting from subfoveal CNV caused by AMD. Twenty-six patients had major macular subretinal hemorrhage, 39 patients had occult subfoveal CNV, and 25 patients had classic subfoveal CNV. METHODS: Macular translocation surgery was performed between 1997 and 1999. The patients were examined preoperatively and at 3, 6, and 12 months postoperatively, including visual acuity, microperimetry, angiography, and orthoptic assessment. RESULTS: Visual acuity increased by 15 or more letters in 24 patients, remained stable in 37 patients, and deteriorated by 15 or more letters in 29 patients at 12 months postoperatively. A secondary procedure was necessary in 17 patients because of severe complications; proliferative vitreoretinopathy was observed in 17 eyes, macular pucker in 5 eyes, and macular hole in 1 patient. CONCLUSION: Macular translocation is a technically demanding surgical procedure. Although the procedure has a high rate of surgical and postoperative complications, the functional and anatomical results appear to be promising for selected patients with subfoveal CNV secondary to AMD.