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PURPOSE: Myopia prevalence is increasing globally, with the highest rates found in Asia. Data from European countries is scarce. We aimed to investigate whether the prevalence of myopia is rising in our meridians. METHODS: Data from male military conscripts for the recruitment period of 2008-2017 were retrospectively analyzed. Year of recruitment, conscripts' birth year, visual acuity, refractive status (spherical equivalent), and spectacle wear (yes/no) were available. RESULTS: The dataset contained data of a total of 355,657 male conscripts, who had been recruited in the years 2008 to 2017. The mean number of conscripts per year was 35,566 (MD = 35,440, SD = 1249), reaching a minimum number of 33,998 conscripts in 2017 and a maximum of 37,594 in 2011. Mean age at recruitment was 19.7 years (MD = 19.0 years, SD = 1.1 years). Overall, the number of conscripts wearing spectacles remained stable over the observation time; on average 29.6% (n = 10,540; MD = 10,472; SD = 492) of conscripts wore glasses at recruitment. Of 21.8% (n = 77,698) of conscripts, data on the refractive status was available: The mean spherical equivalent for both right and left eyes was -2.3D (MD = -2 D, SD = 2.4 D). No decrease in mean spherical equivalent per recruitment year was noted over the observation period. Estimated myopia prevalence reached an average of 27.5% (SD = 0.8%) and did not increase during the observation period. CONCLUSION: In summary, no change in spherical equivalent refractive errors of male Swiss army conscripts was found for the years 2008-2017. Equally, the percentage of spectacle wearers (MN = 29.6%) and estimated myopia prevalence (MN = 27.5%) did not significantly increase during the observation time. TRIAL REGISTRATION: BASEC 2019-00060 (18/01/2019).
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Personal Militar , Miopía , Refracción Ocular , Agudeza Visual , Humanos , Masculino , Prevalencia , Miopía/epidemiología , Estudios Retrospectivos , Personal Militar/estadística & datos numéricos , Adulto Joven , Refracción Ocular/fisiología , Suiza/epidemiología , Anteojos/estadística & datos numéricos , Estudios de Seguimiento , Adolescente , AdultoRESUMEN
PURPOSE: Assessment of diagnostic and therapeutic strategies currently used in routine practice for myopia management in Europe. METHODS: Online survey study including 11 main questions. The questionnaire was sent to members of the European Paediatric Ophthalmology Society (EPOS). The following items and questions were surveyed: I. Profession and workplace of the survey participants. II. Preventive measures and recommendations for myopia management, a) regarding reading distance and near work, b) optical tools, i.e., application of Defocus Incorporated Multiple Segments (DIMS) glasses, near additions, or contact lenses, and c) the application of atropine eye drops. III. Application of additional diagnostic tools. RESULTS: Forty-eight individuals completed the survey. Of the respondents, 88% (n = 42) affirmed that they generally gave advice on strategies for myopia prevention and management strategies. Almost all study participants (n = 41; 85%) recommend outdoor time as a preventive measure. The recommendation on near distance is given less frequently, with 28 (58%) participants confirming that they do recommend a "safe" reading distance, and 15 (31%) negating this. Eight (17%) survey participants recommend using near addition glasses, while 36 (75%) do not. Similarly, 35 (73%) respondents do not apply DIMS glasses and 8 (17%) apply them. Fourteen (29%) participants recommend myopia-reducing contact lenses while 30 (63%) do not, and 29 (60%) confirmed that they applied atropine eye drops to slow myopia progression while 14 (29%) do not prescribe these eye drops. The majority of respondents (n = 25; 86%) who prescribe atropine eye drops use atropine 0.01% eye drops. CONCLUSIONS: Prevention and therapeutic management of childhood myopia is an essential part in the daily routine of pediatric ophthalmologists. Substantial agreement was found for the protective role of outdoor time (85%). The only common therapeutic approach is the administration of atropine eye drops (60%).
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Miopía , Oftalmólogos , Humanos , Niño , Progresión de la Enfermedad , Miopía/diagnóstico , Miopía/prevención & control , Atropina/uso terapéutico , Encuestas y Cuestionarios , Soluciones Oftálmicas , Refracción OcularRESUMEN
BACKGROUND: Achromatopsia (ACHM) as a hereditary cone disease might manifest in a stationary and progressive manner. The proper clinical and genetic diagnosis may allow an individual prognosis, accurate genetic counselling, and the optimal choice of low vision aids. The primary aim of the study was to determine the spectrum of clinical and genetic diagnostics required to characterize the ACHM. METHODS: A retrospective analysis was performed in 8 patients from non-related families (5 â,3 â); age at diagnosis: 3â-â56 y, mean 18.13 (SD ± 18.22). Clinical phenotyping, supported by colour vision test, fundus photography-, autofluorescence- (FAF), infra-red- (IR), OCT imaging and electroretinography provided information on the current status and the course of the disease over the years. In addition, genetic examinations were performed with ACHM relevant testing (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and the transcription factor ATF6). RESULTS: All patients suffered photophobia and reduced visual acuity (mean: 0.16 [SD ± 0.08]). Nystagmus was identified in 7 from 8 subjects and in one patient a head-turn right helped to reduce the nystagmus amplitude. Colour vision testing confirmed complete achromatopsia in 7 out of 8 patients. Electrophysiology found severely reduced photopic- but also scotopic responses. Thinning and interruption of the inner segment ellipsoid (ISe) line within the macula but also FAF- and IR abnormalities in the fovea and/or parafovea were characteristic in all ACHM patients. Identification of pathogenic mutations in 7 patients helped to confirm the diagnosis of ACHM (3 adults, 4 children; 3 â and 4 â). Achromatopsia was linked to CNGA3 (2 â, 1 â) and CNGB3 variants (2 â, 3 â). The youngest patient (â, 10 y) had 3 different CNGB3 variants on different alleles. In a patient (â, 29 y) carrying 2 pathogenic digenic-triallelic CNGA3- and CNGB3-mutations, a severe progression of ISe discontinuity to coloboma-like macular atrophy was observed during the 12-year follow-up. The oldest female (67 y) showed a compound homozygous CNGA3- and heterozygous CNGB3-, as well as a heterozygous GUCY2D variants. The destruction of her ISe line was significantly enlarged and represented a progressive cone-rod phenotype in comparison to other ACHM patients. In a patient (â, 45 y) carrying a pathogenic CNGB3 and USH2 mutation, a severe macular oedema and a rod-cone phenotype was observed. In addition, two variants in C2ORF71 considered as VOS were found. One patient showed the rare ATF6 mutation, where a severe coloboma-like macular atrophy was observed on the left eye as early as at the age of three years. CONCLUSION: Combining multimodal ophthalmological diagnostics and molecular genetics when evaluating patients with ACHM helps in characterizing the disease and associated modifiers, and is therefore strongly recommended for such patients.
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BACKGROUND: The size of the anterior visual pathway (AVP) structures is affected by patient age and pathology. Normative data is useful when determining whether pathology is present. AVP structures do not respect the standard planes of magnetic resonance (MR) imaging. The aim of this study was to produce normative age-related and axis-corrected data of the AVP structures using multiplanar reformation (MPR) of high-resolution 3D T2-weighted fast spin echo (3D T2w FSE) images. METHODS: For each patient 32 measurements of AVP structures were obtained in 145 children (2 months - 18 years) with normal brain MR studies on high-resolution 3D T2w FSE images adjusted to the axis of each AVP structure. Descriptive statistics were calculated for different age classes and growth models were fitted to the data and assessed for their performance to create a formal statistical model that allows inference beyond the sample. RESULTS: Descriptive statistics were compiled in a reference table and prediction plots in relation to age, height, and body surface area (BSA) were obtained from the best overall performing statistical model, also taking field strength (1.5 vs. 3 T) into account. Intraclass correlation coefficient values were calculated for all variables ranging from 0.474 to 0.967, the most reliable being the transverse diameter of the globe, the maximum diameter of the retrobulbar nerve sheath, the intracranial segment of the optic nerve and the transverse diameter of the chiasm. The maximum retrobulbar diameter of the optic nerve sheath and the lateral superoinferior diameter of the chiasm showed no statistically significant change with age. CONCLUSION: Detailed charts of reference values for AVP structures as well as prediction plots in relation to age, height and BSA were established using axis-corrected measurements from the MPR of high-resolution 3D T2w FSE images. Furthermore, an Excel spreadsheet that allows users to calculate normative values for the 9 AVP structures of key interest is provided as supplementary material.
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Imagenología Tridimensional , Vías Visuales , Niño , Humanos , Imagenología Tridimensional/métodos , Imagen por Resonancia Magnética/métodos , Modelos Estadísticos , Valores de Referencia , Vías Visuales/diagnóstico por imagenRESUMEN
BACKGROUND: Brown syndrome is characterized by a restrictive elevation deficit of the affected eye in adduction. Besides the well-known congenital form, different acquired etiologies including inflammation, trauma, and surgery may prevent the superior oblique (SO) tendon from gliding freely through the trochlea on attempted upgaze. We present MRI findings in pediatric and adult patients with inflammatory acquired Brown syndrome. METHODS: Retrospective review of clinical and MRI findings of 6 patients (4 children: median age 8.4 years [range 6.1-8.7]; 2 adults: age 46.4 and 51.1 years). Median follow-up was 23 months (range 1-52). RESULTS: In all 6 patients, orbital MRI demonstrated inflammatory changes of the SO tendon-trochlea complex. A striking feature was circumferential contrast enhancement of the trochlea with central sparing where the tendon passes, reminiscent of an eyelet. In all cases, the motility restriction improved either spontaneously or with systemic anti-inflammatory treatment. Although both adult patients had a history of known seronegative spondyloarthritis, there was no associated systemic condition in the children in our series. CONCLUSIONS: Both in children and in adults, MRI can provide evidence of inflammatory changes located at the trochlea-tendon complex in acquired Brown syndrome here referred to as the "eyelet sign," which may be helpful in confirming the clinical diagnosis and guide appropriate treatment.
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Trastornos de la Motilidad Ocular , Adulto , Niño , Humanos , Imagen por Resonancia Magnética , Trastornos de la Motilidad Ocular/diagnóstico , Trastornos de la Motilidad Ocular/etiología , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/cirugía , Estudios Retrospectivos , Tendones/diagnóstico por imagen , Tendones/cirugíaRESUMEN
BACKGROUND: Surgical treatment of abducens nerve palsy depends on the remaining function of the lateral rectus muscle. Vertical rectus transposition surgery is indicated if the attempted maximal abduction effort does not rotate the eye beyond the midline. After the first description more than 100 years ago, a variety of muscle transposition modifications have been suggested. Nishida's minimally-invasive adaptation has attracted a great deal of attention in recent years. PATIENTS AND METHODS: Retrospective case series of four patients with abducens nerve palsy who were treated with Nishida muscle transposition surgery. Patients' characteristics with special emphasis on comparison between pre- and postoperative angle of deviation and ocular motility are reported. RESULTS: Four patients (2 females, 2 males) were included in this study. Unilateral transposition surgery was performed in a 7-year-old girl and a 37-year-old woman with a left abducens nerve palsy. In a 56-year-old male with a left sixth nerve palsy and in an 82-year-old male with a right sixth nerve palsy the transposition maneuver was combined with a recession of the medial rectus muscle in the same eye. In all patients, ocular motility was improved and the angle of deviation was reduced. CONCLUSIONS: Transposition of vertical rectus muscles is well established in the surgical treatment of abducens nerve palsy. Nishida's adaptation is a safe, effective and minimally-invasive treatment option. This vessel-sparing technique also allows for equilateral weakening of the medial rectus muscle.
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Enfermedades del Nervio Abducens , Esotropía , Enfermedades del Nervio Abducens/cirugía , Adulto , Anciano de 80 o más Años , Niño , Esotropía/cirugía , Movimientos Oculares , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Periodo Posoperatorio , Estudios RetrospectivosRESUMEN
BACKGROUND: The therapeutic treatment of ocular motility disorders and anomalous head postures (AHP) is often challenging. We report our experience with prism use in these patients. PATIENTS AND METHODS: Retrospective case series of three patients with ocular motility disorders and associated AHP who were treated with prism correction. RESULTS: A 37-year-old male with a traumatic left oculomotor nerve palsy suffered from a residual minor depression deficit and a severe elevation palsy. With OS: 10^ base-up he was corrected for left hypotropia only in down gaze. Ten yoked prisms base-up shifted the field of binocular single vision in primary position. A 45-year-old male with traumatic Parinaud syndrome and upward gaze palsy suffered from neck pain due to his pronounced chin elevation. He also had a right amaurosis with secondary exotropia. With OS: 8^ base-up, his AHP was corrected and his neck pain was alleviated. A 69-year-old woman with a left abducens nerve palsy adopted a left turn of 20° to compensate for her deviation in extreme right gaze. With OS: 20^ base-out, her AHP was corrected and she experienced no double vision in primary position. CONCLUSIONS: Prisms are used to correct strabismic deviations but also can successfully shift images towards another gaze in different clinical scenarios. Reduction of AHP, therefore, can be obtained by a prism-induced gaze shift in the direction of the motility restriction.
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Trastornos de la Motilidad Ocular , Estrabismo , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos de la Motilidad Ocular/diagnóstico , Trastornos de la Motilidad Ocular/etiología , Trastornos de la Motilidad Ocular/terapia , Músculos Oculomotores , Postura , Estudios Retrospectivos , Estrabismo/diagnóstico , Estrabismo/etiología , Estrabismo/terapia , Visión BinocularRESUMEN
PURPOSE: Describing optic disc appearance in familial retinal arteriolar tortuosity (fRAT) using multimodal imaging and raising awareness of peripapillary arterial changes due to this disorder. METHODS: A cross-sectional study was performed in four consecutive patients of two non-related families. Detailed ophthalmological examination was performed and supported by medical and family history and multimodal imaging. RESULTS: In all subjects, increased tortuosity of second- and third-order retinal arteries in superior and deeper vascular plexus was documented. Furthermore, tortuosity in the peripapillary circle of Zinn-Haller was found. In addition, retinal vessel oximetry confirmed tortuosity only of the arterial vessels. CONCLUSION: The present data suggests that a blurry bordered, hyperemic optic disc in the presence of abnormally tortuous arteriolar vessels and asymptomatically or oligosymptomatically spontaneously resolved hemorrhages could be associated with a fRAT. This finding could be linked to peripapillary arterial vessel tortuosity.
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Disco Óptico , Arteria Retiniana , Estudios Transversales , Humanos , Disco Óptico/diagnóstico por imagen , Retina , Arteria Retiniana/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagenRESUMEN
BACKGROUND: Paragliding is a risk-taking adventure sport. It can be performed either individually or accompanied by a pilot in tandem formation. Paragliding, as well as other types of "extreme" sport, have gained popularity over the past few years. Injuries predominantly involve the lower extremities and the spinal column. Head injuries occur only rarely. PATIENTS AND METHODS: Retrospective case series of three patients with ocular motor nerve palsies caused by paragliding accidents. Patients' characteristics with special emphasis on treatment strategies are reported. RESULTS: Two men (41 and 56 years of age) suffered from open head injuries and one 56-year-old male from a closed head injury as part of polytrauma caused by paragliding accidents. All patients complained of double vision. The first patient showed a right abducens nerve palsy and elevation deficit due to a complex orbital fracture. Patient 2 had a traumatic right six nerve palsy. The third patient had a complex motility disorder with a bilateral abducens and trochlear nerve palsy. In all three cases, eye muscle surgery improved ocular motility. Two patients regained binocular single vision. CONCLUSIONS: Characteristics of injuries caused by paragliding accidents depend on the trauma scenario. Injury pattern might differ widely. Ocular motor nerve palsies often accompany head trauma. Treatment is guided by common strategies for incomitant strabismus. These ocular motility disorders are often complex and require an individually tailored approach.
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Enfermedades del Nervio Abducens , Trastornos de la Motilidad Ocular , Enfermedades del Nervio Oculomotor , Enfermedades del Nervio Troclear , Accidentes , Adulto , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
BACKGROUND: Antibodies against myelin oligodendrocyte glycoprotein (MOG-IgG) have been consistently found in a range of demyelinating disorders. In this context, MOG-IgG-associated optic neuritis (ON) has been suggested as a new subset of optic neuropathy. However, clinical manifestations and distinctive characteristics have only rarely been described. PATIENTS AND METHODS: A retrospective case series of three patients with MOG-IgG-associated ON. Clinical morphological features using imaging techniques are presented. RESULTS: Three patients (8-year-old boy, 28-year-old female, 48-year-old male) were included. An 8-year-old boy suffered from a bilateral ON with severe visual loss. The best-corrected visual acuity (BCVA) was 0.05 in the right eye and finger counting in the left eye. The patient had a previous episode of acute disseminated encephalomyelitis (ADEM) with a right abducens nerve palsy. Visual acuity recovered after repeated cycles of intravenous methylprednisolone pulse therapy and 10 cycles of plasma exchange. During the last follow-up, BCVA was 0.9 in the right eye and 0.8 in the left eye. A 28-year-old female presented with a bilateral ON. Her BCVA was 0.5 in the right eye and 0.8 in the left eye. She fully recovered with pulse methylprednisolone therapy (1000 mg/d) with tapering after the second cycle and had a BCVA of 1.0 during the last follow-up visit. A 48-year-old male suffered from a relapsing bilateral ON. At first presentation, BCVA was 0.1 in the right eye and finger counting in the left eye. BCVA fully recovered after each pulse therapy with intravenous methylprednisolone (two cycles). Since the first relapse, the patient has been receiving long-term immunosuppression with rituximab. Despite rituximab and low-dose oral prednisone, the patient had another relapse with a left ON. After a third cycle with intravenous methylprednisolone, he partially recovered. BCVA at last follow-up was 1.0 in the right and 0.8 in the left eye. CONCLUSIONS: MOG-IgG antibodies have been identified in different acquired demyelinating syndromes. The patients reported had an ADEM followed by bilateral ON, an isolated bilateral ON, and a relapsing bilateral ON. Individual treatment strategies led to substantial visual recovery in all patients. We recommend inclusion of MOG-IgG antibodies in the diagnostic workup at least after the first recurrence of ON since they can serve as a diagnostic and potential prognostic tool and might lead to specific therapeutic recommendations.
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Autoanticuerpos , Neuritis Óptica , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Glicoproteína Mielina-Oligodendrócito , Nervio Óptico , Estudios RetrospectivosRESUMEN
BACKGROUND: Evaluation of a new method for cyclofusion measurement. PATIENTS AND METHODS: The maximal incyclofusion and excyclofusion tolerated of 20 normal subjects (15 females, mean age 36 ± 9.9 years) were measured by computer-generated dynamic random-dot stereograms (DRDS). Subjects had to detect the orientation of only binocularly visible Landolt C stimuli randomly presented with a 3-D monitor. Both eyes were separately stimulated with shutter glasses. The DRDS-pattern projected to the left and right eye were rotated in the opposite direction in 0.5° steps. In 10 subjects, cyclofusion measurements were repeated. RESULTS: Incylofusional amplitudes were between 2.5° and 6°, excyclofusional amplitudes measured between 3° and 5.5°. Mean incyclofusion was 3.71° (SD 0.82) and mean excyclofusion measured 4.24° (SD 0.73). Repeated measurements of incyclofusion and excyclofusion in the same subject demonstrated a difference of about 0.5° (0.55° for incyclofusion, 0.45° for excyclofusion). CONCLUSIONS: The DRDS Landolt C method provided a reliable assessment with good reproducibility of cyclofusion in healthy subjects with only binocularly perceivable objects. Our cyclofusional capabilities were slightly higher than those received with dissociating 2D measurements.
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Anteojos , Músculos Oculomotores , Adulto , Femenino , Humanos , Persona de Mediana Edad , Músculos Oculomotores/fisiología , Reproducibilidad de los Resultados , Rotación , EstrabismoAsunto(s)
Lipofuscinosis Ceroideas Neuronales , Humanos , Masculino , Diagnóstico Diferencial , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/complicaciones , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Lipofuscinosis Ceroideas Neuronales/complicaciones , Lipofuscinosis Ceroideas Neuronales/genética , Trastornos de la Visión/etiología , Trastornos de la Visión/diagnóstico , PreescolarRESUMEN
BACKGROUND: Acute macular neuroretinopathy (AMNR) is a rare unilateral or bilateral macular disorder. It typically occurs in young women presenting with sudden onset of central scotomas. They correspond to sharp reddish-brown areas in the macular region. The lesions often can only be observed with infrared reflectance imaging. These flat oval or wedge-shaped lesions are often grouped as a flower around the fovea. PATIENTS AND METHODS: Retrospective case series of 4 patients with AMNR. Clinical morphological features using different imaging techniques are presented. RESULTS: Four young women (26, 27, 28, 29 years of age) complained of seeing dark spots in the central visual field. In 3 patients, the scotomas occurred bilaterally. Three patients reported a history of preceding flu-like illness. In all 4 cases, visual acuity in both eyes was 1.0 with normal anterior and posterior segments. The corresponding retinal lesions were only noted in the infrared image of the optical coherence tomography (OCT). OCT images showed focal abnormalities in the photoreceptor outer segments. Follow-up periods varied between 9 and 36 months. In all patients, symptoms improved with at least partial recovery of the retinal architecture. CONCLUSIONS: Patients with AMNR suffer from acute onset of unilateral or bilateral central scotomas. Visual acuity is often only mildly affected. AMNR has a variable prognosis. In some cases, a self-limiting course with retinal recovery is observed while some patients have persistent reduction in visual acuity. Because there is no causative treatment for AMNR, an observational treatment approach is generally recommended.
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Mácula Lútea , Enfermedades de la Retina , Enfermedad Aguda , Adulto , Femenino , Humanos , Mácula Lútea/diagnóstico por imagen , Enfermedades de la Retina/diagnóstico por imagen , Estudios Retrospectivos , Escotoma , Tomografía de Coherencia ÓpticaRESUMEN
BACKGROUND: Pediatric vision screening has been shown to reduce the prevalence of amblyopia. To assess the current local situation in the Canton of St. Gallen, a survey study was performed. METHODS: A standardized questionnaire was sent to 191 general practitioners and school doctors to obtain information on the currently applied vision screening protocols for children. The questionnaire included 17 questions with multiple answers possible. RESULTS: Sixty-seven participants (35%) answered the survey. Overall, 61 (91%) of the repliers confirmed that some sort of vision screening exists. According to 45 (67%) repliers, a mandatory examination exists. As to the question about the person performing the examination, multiple answers were given; 39 (44%) answered that the secretary or the medical practical assistant performs the vision tests, 15 (17%) indicated the school doctor, and 25 (28%) indicated the general practitioner or the pediatrician. Most screening tests are performed in a general practitioner's practice (32; 40%), some are done in the kindergartens (17; 21%), and others are done in a pediatrician's practice (17; 21%). The majority of children are tested at the age of 5â-â6 years (58, 87%). Sixty-one (91%) of the repliers indicated that at least the children's visual acuity is measured. Acuity is assessed with different methods, mainly, with pictures (20; 30%), numbers (23; 34%), and Snellen optotypes (33; 49%). CONCLUSIONS: There are no consistent regulations regarding vision screening in the Canton of St. Gallen. Actually, rather different screening scenarios exist. Tests are performed by a variety of people in different locations with diverse testing procedures. A standardization of the applied screening procedures at cantonal and national levels seems reasonable.
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Ambliopía , Trastornos de la Visión , Selección Visual , Agudeza Visual , Niño , Preescolar , Humanos , Tamizaje Masivo , Prevalencia , Trastornos de la Visión/diagnóstico , Pruebas de VisiónRESUMEN
The prevalence of myopia has increased worldwide in recent decades. In East Asia's metropolises ≥ 80% of young adults are affected. This dramatic increase is mainly caused by changes in lifestyle and behaviour. Atropine has been used for more than 100 years to arrest myopia progression. It has become an evidence-based treatment regimen in the last decade, although the exact mechanism of the effect of treatment is still unknown. Atropine eye drops can slow myopia progression by an average of - 0.54 dioptres (D)/year in Asian children and - 0.35 D/year in Caucasian children. However, a non-response rate of about 10% has been found. Treatment should be established in schoolchildren only (age ≥ 6 years) with myopia ≤ - 2 D (spherical equivalent, cycoplegic refraction) and with documented myopic progression of - 0.5 D in the preceding year. 0.01% eyedrops should be instilled into the lower fornix at bedtime. Atropine 0.01% therapy is well tolerated. Atropine is usually administered for 2 years since efficacy is somewhat better in the second year. During treatment, a 6-month follow-up with cycoplegic refraction and axial length measurement is recommended. After the 2-year period, atropine withdrawal is justified if progression is less than - 0.25 D/year in the second year. Even after atropine has been stopped, follow-up examinations are needed to detect any rebound. Atropine-therapy is resumed if progression is again higher than - 0.5 D/year. Topical atropine is used off-label.
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Atropina/uso terapéutico , Adhesión a Directriz , Miopía/prevención & control , Factores de Edad , Atropina/efectos adversos , Longitud Axial del Ojo/efectos de los fármacos , Niño , Progresión de la Enfermedad , Estudios de Seguimiento , Humanos , Soluciones Oftálmicas , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto , Refracción Ocular/efectos de los fármacosRESUMEN
BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is an uncommon benign lesion with characteristic clinical features. Ophthalmoscopically it appears as a small localized, well circumscribed, pigmented tumor in the foveal region. In contrast to the more common flat congenital hypertrophy of the RPE the CSHRPE has an elevated nodular appearance. PATIENTS AND METHODS: Retrospective case series of three patients with CSHRPE. Clinical morphological features using different imaging techniques are presented. RESULTS: A typical dark lesion was incidentally noted in the macula of two patients. Optical coherence tomography (OCT) demonstrated a nodular preretinal hyperreflectivity with shadowing of deeper structures. In one patient the CSHRPE was hypofluorescent throughout the angiogram. The third patient presented with a reduced visual acuity of 0.3. A characteristic lesion was found at the foveal center. OCT revealed a hyperreflective preretinal lesion with associated moderate disruption of the foveal architecture. Amblyopia treatment slightly improved visual acuity in this case. The lesions remained stationary in two patients (follow-up 8â-â14 months). CONCLUSIONS: CSHRPE are usually detected as an incidental finding. Given its benign character and typically asymptomatic presentation an observational treatment approach is generally recommended. The lesions generally remain stationary and are not known to grow. In cases with visual impairment due to foveal involvement amblyopia treatment should be initiated.
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Hamartoma/congénito , Epitelio Pigmentado Ocular/anomalías , Enfermedades de la Retina/congénito , Niño , Femenino , Angiografía con Fluoresceína , Fóvea Central/diagnóstico por imagen , Hamartoma/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Oftalmoscopía , Epitelio Pigmentado Ocular/diagnóstico por imagen , Enfermedades de la Retina/diagnóstico por imagen , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families. All coding exons, as well as exon-intron boundaries of the OPA1 gene were sequenced. In addition, multiplex ligation-dependent probe amplification (MLPA) was performed to uncover copy number variations in OPA1. mRNA processing was monitored using RT-PCR and subsequent cDNA analysis. RESULTS: We report two novel splice region mutations in OPA1 in two unrelated individuals and their affected relatives, which were previously not described in the literature. In one family the heterozygous insertion and deletion c.[611-37_611-38insACTGGAGAATGTAAAGGGCTTT;611-6_611-16delCATATTTATCT] was found in all investigated family members leading to the activation of an intronic cryptic splice site. In the second family sequencing of OPA1 disclosed a de novo heterozygous deletion c.2012+4_2012+7delAGTA resulting in exon 18 and 19 skipping, which was not detected in healthy family members. CONCLUSION: We identified two novel intronic mutations in OPA1 affecting the correct OPA1 pre-mRNA splicing, which was confirmed by OPA1 cDNA analysis. This study shows the importance of transcript analysis to determine the consequences of unclear intronic mutations in OPA1 in proximity to the intron-exon boundaries.
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GTP Fosfohidrolasas/genética , Atrofia Óptica Autosómica Dominante/genética , Precursores del ARN/metabolismo , Secuencia de Bases , ADN/química , ADN/aislamiento & purificación , ADN/metabolismo , Análisis Mutacional de ADN , Exones , Heterocigoto , Humanos , Mutación INDEL , Intrones , Linaje , Precursores del ARN/genética , Empalme del ARN , Retina/diagnóstico por imagen , Tomografía de Coherencia ÓpticaRESUMEN
BACKGROUND: Treatment of retinopathy of prematurity (ROP) stage 3 plus with bevacizumab is still very controversial. We report the outcome of 6 eyes of 4 premature infants with ROP stage 3 plus disease treated with ranibizumab monotherapy. METHODS: Six eyes of 4 premature infants with threshold ROP 3 plus disease in zone II, were treated with one intravitreal injection of 0.03 ml ranibizumab. No prior laser or other intravitreal therapy was done. Fundus examination was performed prior to the intervention and at each follow-up visit. Changes in various mean vital parameters one week post intervention compared to one week pre-intervention were assessed. RESULTS: The gestational age (GA) of patient 1, 2, 3, and 4 at birth was 24 5/7, 24 5/7, 24 4/7, and 26 1/7 weeks, respectively. The birth weight was 500 grams, 450 grams, 665 grams, and 745 grams, respectively. The GA at the date of treatment ranged from 34 3/7 to 38 6/7 weeks. In one infant, upper air way infection was observed 2 days post injection of the second eye. Three eyes required paracentesis to reduce the intraocular pressure after injection and to restore central artery perfusion. After six months, all eyes showed complete retinal vascularisation without any signs of disease recurrence. CONCLUSIONS: Treatment of ROP 3 plus disease with intravitreal ranibizumab was effective in all cases and should be considered for treatment. One infant developed an upper air way infection suspicious for nasopharyngitis, which might be a possible side effect of ranibizumab. Another frequent complication was intraocular pressure rise after injection. More patients with longer follow-up duration are mandatory to confirm the safety and efficacy of this treatment. TRIAL REGISTRATION NUMBER: NCT02164604; Date of registration: 13.06.2014.
Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Ranibizumab/uso terapéutico , Neovascularización Retiniana/tratamiento farmacológico , Retinopatía de la Prematuridad/tratamiento farmacológico , Femenino , Edad Gestacional , Humanos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Recien Nacido Prematuro , Inyecciones Intravítreas , Neovascularización Retiniana/clasificación , Retinopatía de la Prematuridad/clasificación , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidoresRESUMEN
BACKGROUND: Monocular infantile blindness may be associated with bilateral horizontal nystagmus, a subtype of fusion maldevelopment nystagmus syndrome (FMNS). Patients often adopt a significant anomalous head posture (AHP) towards the fixing eye in order to dampen the nystagmus. This clinical entity has also been reported as unilateral Ciancia syndrome. The aim of the study was to ascertain the clinical features and surgical outcome of patients with FMNS with infantile unilateral visual loss. METHODS: In this retrospective case series, nine consecutive patients with FMNS with infantile unilateral visual loss underwent strabismus surgery to correct an AHP and/or improve ocular alignment. Outcome measures included amount of AHP and deviation at last follow-up. RESULTS: Eye muscle surgery according to the principles of Kestenbaum resulted in a marked reduction or elimination of the AHP. On average, a reduction of AHP of 1.3°/mm was achieved by predominantly performing combined horizontal recess-resect surgery in the intact eye. In cases of existing esotropia (ET) this procedure also markedly reduced the angle of deviation. A dosage calculation of 3 prism diopters/mm was established. CONCLUSIONS: We advocate a tailored surgical approach in FMNS with infantile unilateral visual loss. In typical patients who adopt a significant AHP accompanied by a large ET, we suggest an initial combined recess-resect surgery in the intact eye. This procedure regularly led to a marked reduction of the head turn and ET. In patients without significant strabismus, a full Kestenbaum procedure was successful, while ET in a patient with a minor AHP was corrected by performing a bimedial recession.