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1.
J Med Genet ; 61(2): 186-195, 2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-37734845

RESUMO

PURPOSE: Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond the exome' in regular care of patients with inherited retinal degeneration (IRD) or inherited optic neuropathy (ION). METHODS: PCR-free short-read GS was performed on 1000 consecutive probands with IRD/ION in routine diagnostics. Complementary whole-blood RNA-sequencing (RNA-seq) was done in a subset of 74 patients. An open-source bioinformatics analysis pipeline was optimised for structural variant (SV) calling and combined RNA/DNA variation interpretation. RESULTS: A definite genetic diagnosis was established in 57.4% of cases. For another 16.7%, variants of uncertain significance were identified in known IRD/ION genes, while the underlying genetic cause remained unresolved in 25.9%. SVs or alterations in non-coding genomic regions made up for 12.7% of the observed variants. The RNA-seq studies supported the classification of two unclear variants. CONCLUSION: GS is feasible in clinical practice and reliably identifies causal variants in a substantial proportion of individuals. GS extends the diagnostic yield to rare non-coding variants and enables precise determination of SVs. The added diagnostic value of RNA-seq is limited by low expression levels of the major IRD disease genes in blood.


Assuntos
Exoma , Oftalmopatias , Humanos , Estudos Prospectivos , Sequência de Bases , RNA , Oftalmopatias/diagnóstico , Oftalmopatias/genética
2.
Exp Eye Res ; 226: 109349, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36516904

RESUMO

Recently, we proposed a method to assess cell-specific retinal functions based on the frequency-dependent responses to sinusoidal transcorneal electrostimulation. In this study, we evaluated the alterations in responsiveness in achromatopsia patients to explore the frequency-selectivity of photoreceptors. The electrical stimulation was applied to one eye of genetically confirmed achromatopsia patients via corneal electrodes. The stimulus was composed of amplitude-modulated sine waves with variable carrier frequencies (4-30 Hz) and a steady low-frequency envelope. The retinal responsiveness across the spectrum was calculated based on the velocity and the synchronicity of the electrically evoked pupillary oscillations. Achromats displayed a characteristic peak in responsiveness in the 6-10 Hz range. In contrast, stimulus frequencies above 16 Hz elicited only weak pupil responses and weak phosphenes. Compared to the tuning curve of the healthy retina, responses to low-frequency stimulation appear to reflect mainly rod activation while higher frequencies seem to activate cones. The possibility to examine cell-specific retinal functions independently from their responses to light may improve our understanding of the structural changes in the retina induced by gene therapy.


Assuntos
Defeitos da Visão Cromática , Humanos , Retina/fisiologia , Células Fotorreceptoras Retinianas Cones/fisiologia , Estimulação Elétrica/métodos , Estimulação Luminosa/métodos
3.
Graefes Arch Clin Exp Ophthalmol ; 261(6): 1713-1722, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36645454

RESUMO

PURPOSE: To explore the pupil redilation during persistent light exposure (pupillary escape phenomenon) at the macula and periphery with monochromatic light stimuli. METHODS: Forty healthy subjects aged 18-64 years (24 females) were examined by chromatic pupil campimetry (CPC) using red and blue 4-s stimuli of 10° radius at the center and 20°-peripheral locations one per quadrant. One glaucoma patient and one achromatopsia patient served as disease models. For statistical analyses, linear mixed-effects models were performed followed by post hoc t-tests. RESULTS: A distinct pupillary escape could be demonstrated peripherally (blue 0.099%*s, red 0.153%*s); at the central healthy retina, there was no relevant escape, neither for blue nor red stimulation. Comparing central versus peripheral stimulation revealed highly significant differences in the escape (difference blue 0.100 ± 0.013, red 0.144 ± 0.013, < 0.0001, respectively). In the periphery, the escape was significantly more pronounced for red compared with blue stimulation (difference 0.054 ± 0.013; p = 0.0001). Enhanced pupillary escape outside of the 95% confidence interval of the linear mixed-effects model of the healthy population could be exemplarily shown in a patient with glaucomatous ganglion cell damage. In the achromatopsia example, no relevant escape was found for blue stimulation, but for red stimulation in the periphery in a comparable range to healthy controls. CONCLUSION: The results emphasize that an intact inner retinal network of nerve fibers arising from the central macular region is necessary for maintaining pupillary constriction during a bright 4-s light stimulus and preventing increase of pupillary escape. Increasing receptive field sizes towards the periphery on the level of retinal ganglion cells and less input from central 1:1 connections could be one of the driving mechanisms for pupillary escape.


Assuntos
Defeitos da Visão Cromática , Glaucoma , Feminino , Humanos , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Retina , Estimulação Luminosa , Luz
4.
J Neuroophthalmol ; 43(3): 348-352, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36730153

RESUMO

BACKGROUND: It is generally believed that optic disc drusen (ODD) change only over long periods of time. Because, in our experience, this does not apply to younger patients, we investigated the natural course of changes of the peripapillary retinal nerve fiber layer (RNFL) in patients with ODD. METHODS: In this retrospective study, 40 eyes with and 40 eyes without ODD were examined, both cohorts were equally subdivided into younger subjects (20 years or younger) and older subjects (21 years or older). Three optical coherence tomography (OCT) scans of the peripapillary RNFL that had an interval of at least 1 month were required for each patient to be included in this study. The largest difference in total RNFL thickness (delta RNFL-t) and in RNFL thickness of the most differing sector (delta RNFL max) measured by OCT was compared. RESULTS: The differences in total RNFL thickness and in the most differing RNFL sector in the group of patients with ODD younger than 21 years were significantly larger than in each of the other 3 groups ( P = 0.0001). The other 3 groups did not differ significantly. CONCLUSIONS: Patients with ODD younger than 21 years have distinct variations in peripapillary RNFL thickness without evidence of increased intracranial pressure. In the absence of further pathological findings or neurological symptoms, an observational approach seems adequate in these patients.


Assuntos
Drusas do Disco Óptico , Disco Óptico , Humanos , Drusas do Disco Óptico/complicações , Drusas do Disco Óptico/diagnóstico , Disco Óptico/diagnóstico por imagem , Disco Óptico/patologia , Estudos Retrospectivos , Células Ganglionares da Retina/patologia , Fibras Nervosas/patologia , Tomografia de Coerência Óptica/métodos
5.
Exp Eye Res ; 222: 109185, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35850172

RESUMO

Studies on the electrical excitability of retinal neurons show that photoreceptors and other cell types can be selectively activated by distinct stimulation frequencies in vitro. Yet, this principle still needs to be validated in humans in vivo. As a first step, this study explored the frequency preferences of human rods by means of transcorneal electrostimulation (TES), using the electrically-elicited pupillary responses (EEPRs) as an objective readout. The stimulation paradigm contained a 1.2 Hz sinusoidal envelope, which was superimposed on variable carrier frequencies (4-30 Hz). These currents were delivered to one of the participant's eyes via a corneal electrode and consensual pupillary reactions were recorded from the contralateral eye. The responsiveness of the retina at each frequency was assessed based on the EEPR dynamics. Differences between healthy participants and patients with retinitis pigmentosa were evaluated to identify the preferred frequency range of rods. The responsiveness of healthy individuals revealed a clear peak around 6-8 Hz. In contrast, the pupillary responses of patients were significantly reduced in the lower frequency range. These findings suggest that the responses in this frequency bin were selectively mediated by rods. This work provides evidence that different retinal cell types can be selectively activated via TES in vivo, and that this effect can be captured noninvasively using EEPRs. This knowledge may be exploited for the diagnostics and therapy of retinal diseases, e.g., to design cell-specific functional tests for the degenerating retina, or to optimize stimulation paradigms which are currently used by retinal prostheses.


Assuntos
Córnea , Retinose Pigmentar , Córnea/fisiologia , Estimulação Elétrica , Humanos , Retina/metabolismo , Células Fotorreceptoras Retinianas Bastonetes , Retinose Pigmentar/metabolismo
6.
Graefes Arch Clin Exp Ophthalmol ; 260(2): 577-581, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34554296

RESUMO

BACKGROUND/OBJECTIVES: The correct classification of a slowly progressing optic atrophy can be challenging. The aim of this work was to find out if the characteristics of peripapillary retinal nerve fiber layer (RNFL) thickness loss differ between open angle glaucoma (POAG), optic nerve sheath meningioma (ONSM), and sphenoid wing meningioma (SWM). METHODS: A total of 45 patients with POAG, ONSM, and SWM were included in the retrospective study. The peripapillary RNFL thickness measured by spectral-domain optical coherence tomography was analyzed using the Heidelberg Engineering glaucoma module©. RESULTS: Each group consisted of 15 patients. The temporal sector of the RNFL thickness showed a median decrease of - 17 µm in glaucoma patients (range + 6/-34 µm), - 43 µm in ONSM (range - 19/ - 52 µm), and - 44 µm in SWM patients (range - 25/ - 52 µm). The RNFL thickness of the temporal sector of glaucoma patients differed significantly from the other groups (p < 0.001). All other sectors showed no significant difference between the 3 groups. CONCLUSION: The peripapillary RNFL thickness of the temporal sector of patients with beginning to moderate POAG is usually inside normal limits or borderline. In contrast, patients with ONSM and SWM are much more likely to show a considerable reduction in RNFL thickness of the temporal sector. RNFL thickness of the temporal sector marked outside normal limits occurred exclusively in meningioma patients. Considering the presence of this condition as a predictor for meningioma, sensitivity and specificity were 0.8 and 1.0, respectively. In patients with significant reduction in RNFL thickness of the temporal sector, magnetic resonance imaging of the head should be considered to rule out compression of the optic nerves.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Neoplasias Meníngeas , Meningioma , Atrofia , Glaucoma/patologia , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/patologia , Humanos , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/diagnóstico , Meningioma/complicações , Meningioma/diagnóstico , Fibras Nervosas/patologia , Nervo Óptico/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Campos Visuais
7.
Graefes Arch Clin Exp Ophthalmol ; 260(5): 1675-1685, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34902059

RESUMO

PURPOSE: To examine systematically how prechiasmal, chiasmal, and postchiasmal lesions along the visual pathway affect the respective pupillary responses to specific local monochromatic stimuli. METHODS: Chromatic pupil campimetry (CPC) was performed in three patient groups (10 subjects with status after anterior ischemic optic neuropathy, 6 with chiasmal lesions, and 12 with optic tract or occipital lobe lesions (tumor, ischemia)) using red, low-intensity red, and blue local stimuli within the central 30° visual field. Affected areas - as determined by visual field defects revealed using conventional static perimetry - were compared with non-affected areas. Outcome parameters were the relative maximal constriction amplitude (relMCA) and the latency to constriction onset of the pupillary responses. RESULTS: A statistically significant relMCA reduction was observed in the affected areas of postchiasmal lesions with red (p = 0.004) and low-intensity red stimulation (p = 0.001). RelMCA reduction in the affected areas seemed more pronounced for low-intensity red stimulation (46.5% mean reduction compared to non-affected areas; 36% for red stimulation), however statistically not significant. In prechiasmal lesions, a statistically significant latency prolongation could be demonstrated in the affected areas with low-intensity red stimulation (p = 0.015). CONCLUSION: Our results indicate that the choice of stimulus characteristics is relevant in detecting defects in the pupillary pathway of impairment along the visual pathway, favoring red stimuli of low intensity over blue stimuli. Such knowledge opens the door for further fundamental research in pupillary pathways and is important for future clinical application of pupillography in neuro-ophthalmologic patients.


Assuntos
Distúrbios Pupilares , Vias Visuais , Humanos , Estimulação Luminosa , Pupila/fisiologia , Distúrbios Pupilares/diagnóstico , Reflexo Pupilar/fisiologia , Testes de Campo Visual , Campos Visuais
8.
Nervenarzt ; 93(6): 629-642, 2022 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-35612648

RESUMO

There are many disease patterns that are treated jointly by neurologists and ophthalmologists, for which optical coherence tomography (OCT) is of important differential diagnostic significance. In this context neurologists are mainly confronted by two patient collectives: patients with an acute ischemic event, who present with an acute but painless monocular visual deterioration (for central retinal artery occlusion) or with a monocular visual field defect (for arterial branch occlusion or anterior ischemic optic neuropathy). The second collective is patients without ophthalmological symptoms but with conspicuous optic nerve findings (papilledema or optic disc drusen). In this overview article both patient collectives are considered separately. In addition, the most important OCT findings for optic neuritis are presented. Before the disease patterns are described in detail, the normal OCT findings and the diagnostic possibilities of OCT are explained.


Assuntos
Neurologia , Neurite Óptica , Papiledema , Humanos , Neurite Óptica/diagnóstico por imagem , Papiledema/diagnóstico , Tomografia de Coerência Óptica/métodos
9.
Int Ophthalmol ; 42(5): 1427-1436, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34826023

RESUMO

PURPOSE: To assess the effect of central and peripheral stimulation on the pupillary light reflex. The aim was to detect possible differences between cone- and rod-driven reactions. METHODS: Relative maximal pupil constriction amplitude (relMCA) and latency to constriction onset (latency) to cone- and rod-specific stimuli of 30 healthy participants (24 ± 5 years (standard deviation)) were measured using chromatic pupil campimetry. Cone- and rod-specific stimuli had different intensities and wavelengths according to the Standards in Pupillography. Five filled circles with radii of 3°, 5°, 10°, 20° and 40° and four rings with a constant outer radius of 40° and inner radii of 3°, 5°, 10° and 20° were used as stimuli. RESULTS: For cone-and rod-specific stimuli, relMCA increased with the stimulus area for both, circles and rings. However, increasing the area of a cone-specific ring by minimizing its inner radius with constant outer radius increased relMCA significantly stronger than the same did for a rod-specific ring. For cones and rods, a circle stimulus with a radius of 40° created a lower relMCA than the summation of the relMCAs to the corresponding ring and circle stimuli which combined create a 40° circle-stimulus. Latency was longer for rods than for cones. It decreased with increasing stimulus area for circle stimuli while it stayed nearly constant with increasing ring stimulus area for cone- and rod-specific stimuli. CONCLUSION: The effect of central stimulation on relMCA is more dominant for cone-specific stimuli than for rod-specific stimuli while latency dynamics are similar for both conditions.


Assuntos
Reflexo Pupilar , Células Fotorreceptoras Retinianas Bastonetes , Humanos , Luz , Miose , Estimulação Luminosa , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Células Fotorreceptoras Retinianas Cones , Células Fotorreceptoras Retinianas Bastonetes/fisiologia
10.
Graefes Arch Clin Exp Ophthalmol ; 259(4): 1009-1013, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33337510

RESUMO

PURPOSE: In September 2015, the first and so far only medication for treatment of Leber's hereditary optic neuropathy (LHON) was approved in the EU. The drug in question is idebenone (©Raxone) and has been given to all newly diagnosed patients of the University Eye Hospital Tuebingen since the approval of the drug. The aim of the study was to find out whether regular administration of the drug led to an improvement in vision. We retrospectively examined 2 cohorts of consecutive patients with newly occurred visual impairment and LHON diagnosis: One with the initial diagnosis made from January 2010 until April 2014 and a second from October 2015 until January 2020. METHODS: Retrospective, observational cohort study. All electronic medical files of newly diagnosed and genetically confirmed LHON patients of the University Eye Hospital Tuebingen from January 2010 until April 2014 (cohort 1) and October 2015 until January 2020 (cohort 2) with at least 12 months of follow-up examinations have been analyzed. RESULTS: Five patients were included in the first and 7 patients in the second cohort. Patients of cohort 1 received no medication; patients of cohort 2, a daily dose of 900 mg idebenone. The primary visual acuity (VA) ranged between 0.03 and 0.5 in cohort 1 and did not improve during the observation period (median 60 months, range 23-87 months). The patients of cohort 2 have been observed for a median of 23 months (range 12-35 m). The primary VA ranged from 0.01 to 0.16. A recovery in one or both eyes with a final VA from 0.8 to 1.0 was experienced in 3 out of 7 patients. All patients showing a recovery of VA carried the m.11778G>A mutation. CONCLUSION: The observed improvement in the treated cohort may be considered as a hint on the efficacy of idebenone in LHON. The time course of improvement suggests that idebenone should be given 1.5 years in newly diagnosed LHON cases.


Assuntos
Atrofia Óptica Hereditária de Leber , DNA Mitocondrial , Humanos , Mutação , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/genética , Estudos Retrospectivos , Ubiquinona/análogos & derivados
11.
Ophthalmologica ; 244(5): 396-407, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32805733

RESUMO

This work presents a quick clinical protocol for dark-adapted chromatic (DAC) perimetry as well as a novel clinical tool, scotopic chromatic pupil campimetry (CPC). The goal of the study was to explore the applicability of these methods in a clinical setting, their test-retest repeatability, and the congruence of the results. Local rod sensitivity was assessed at 36 locations within 30° eccentricity of the visual field in 15 healthy subjects (mean age 43 ± 16 years; 7 females and 8 males) with DAC perimetry (red and cyan stimuli) and CPC 2 times in repeated measurements. The duration of individual measurements was 370 ± 5 s for CPC and 366 ± 62 s for DAC perimetry. The intraclass correlation (ICC) coefficient was 0.53 for DAC perimetry cyan stimuli, 0.67 for red stimuli, and 0.93 for CPC. However, the spatial resolution of CPC was substantially smaller than in DAC perimetry. We did not find a correlation of DAC perimetry and CPC measurements on the global or the local level. In comparison to DAC perimetry, CPC shows a superior intervisit repeatability in detecting functional changes in the rod population in an objective way with lower spatial resolution. Our results also indicate that these 2 methods measure the rod function in different ways and could thus constitute complementary scotopic functional diagnostics.


Assuntos
Testes de Campo Visual , Campos Visuais , Adulto , Protocolos Clínicos , Adaptação à Escuridão , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade
12.
BMC Med Genet ; 21(1): 236, 2020 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-33243194

RESUMO

BACKGROUND: Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45-90% of affected individuals with DOA harbor pathogenic variants in the OPA1 gene. The mutation spectrum of OPA1 comprises nonsense, canonical and non-canonical splice site, frameshift and missense as well as copy number variants, but intragenic inversions have not been reported so far. CASE PRESENTATION: We report a 33-year-old male with characteristic clinical features of DOA. Whole-genome sequencing identified a structural variant of 2.4 kb comprising an inversion of 937 bp at the OPA1 locus. Fine mapping of the breakpoints to single nucleotide level revealed that the structural variation was an inversion flanked by two deletions. As this rearrangement inverts the entire first exon of OPA1, it was classified as likely pathogenic. CONCLUSIONS: We report the first DOA case harboring an inversion in the OPA1 gene. Our study demonstrates that copy-neutral genomic rearrangements have to be considered as a possible cause of disease in DOA cases.


Assuntos
GTP Fosfo-Hidrolases/genética , Atrofia Óptica Autossômica Dominante/genética , Inversão de Sequência , Adulto , Axônios , Sequência de Bases , GTP Fosfo-Hidrolases/deficiência , Expressão Gênica , Humanos , Masculino , Atrofia Óptica Autossômica Dominante/diagnóstico , Atrofia Óptica Autossômica Dominante/patologia , Tomografia de Coerência Óptica , Sequenciamento Completo do Genoma
13.
Graefes Arch Clin Exp Ophthalmol ; 258(7): 1523-1526, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32274587

RESUMO

PURPOSE: Analysis of a cohort of pediatric optic neuritis patients concerning the epidemiology, disease progression, and association with multiple sclerosis (MS). METHODS: Retrospective, observational cohort study. From 2004 to 2018, all electronic medical files of patients younger than 18 years referred to a tertiary care clinic in Germany with the diagnosis optic neuritis have been analyzed. RESULTS: Sixty-nine patients were referred in the study period, 16 did not suffer under optic neuritis and were excluded. The median visual acuity of the remaining 53 patients was 0.07 at the baseline examination and 1.0 at the latest follow-up examination (decimal notation, median 2.1 years after baseline). Forty-two percent of the patients developed MS during the study period. Female sex (p = 0.028) as well as higher age (p = 0.0082) proved to be statistically significant risk factors for MS development. CONCLUSION: The prognosis for restoring vision in pediatric optic neuritis was favorable. During the observation period, the risk of developing MS was overall 42% and 8% for patients younger than 11 years. The percentage of MS as underlying cause of optic neuritis does not differ remarkably between children older 10 years and adults.


Assuntos
Esclerose Múltipla/complicações , Neurite Óptica/epidemiologia , Acuidade Visual , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Masculino , Neurite Óptica/etiologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco
14.
Graefes Arch Clin Exp Ophthalmol ; 257(6): 1207-1215, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30982101

RESUMO

PURPOSE: To assess the pupil light response (PLR) to chromatic stimulation in patients with different types of X-linked congenital stationary night blindness (CSNB). METHODS: Eight patients with CSNB due to CACNA1F and NYX mutations were exposed to blue and red light stimuli, and PLR was evaluated using infrared video pupillography. Pupil responses were compared between CSNB patients and healthy subjects (n = 34) at baseline, at maximum of constriction, for post-illumination pupil responses (PIPR) and the slope of redilation using Cohen's d. A subgroup comparison was performed descriptively between CACNA1F and NYX associated CSNB patients using the same parameters. RESULTS: In CSNB, smaller baseline pupil diameters compared to healthy subjects were measured both before blue and red light stimulation (d = 1.44-1.625). The maximum constriction to blue light stimuli was smaller for the CSNB group compared to healthy subjects (d = 1.251) but not for red light stimuli (d = 0.449). Pupil response latencies were prolonged in CSNB for both light stimuli (d = -1.53 for blue and d = -1.011 for red stimulation). No relevant differences were found between the CSNB group and healthy subjects for PIPR (d = 0.01), but the slope of redilation was smaller for CSNB patients (d = 2.12). Paradoxical pupil constriction at light offset was not seen in our patients. CONCLUSION: A reduced redilation and smaller baseline pupil diameters for patients with CSNB indicate a disinhibition of intrinsically photosensitive retinal ganglion cells due to affected post-photoreceptor transduction via bipolar cells and can explain the pupillary behavior in our patient group.


Assuntos
Adaptação à Escuridão/fisiologia , Técnicas de Diagnóstico Oftalmológico , Oftalmopatias Hereditárias/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Miopia/fisiopatologia , Cegueira Noturna/fisiopatologia , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Células Ganglionares da Retina/fisiologia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/diagnóstico , Cegueira Noturna/diagnóstico , Estimulação Luminosa , Opsinas de Bastonetes/metabolismo
15.
Klin Monbl Augenheilkd ; 236(8): 1033-1050, 2019 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-30999363

RESUMO

The evaluation of pupillary function is a keystone in the neuro-ophthalmic assessment of patients. The diagnosis of an afferent or efferent pupillary disorder is crucial in the acquisition of a broad range of diseases of the brain or the peripheral nervous system. This "update" of pupillary disorders covers a major part of clinical conditions eye doctors have to expect in their daily practice. The significance of pupillary evaluation, however, extends far beyond the area of ophthalmology.


Assuntos
Oftalmopatias , Distúrbios Pupilares , Humanos , Pupila , Distúrbios Pupilares/diagnóstico , Distúrbios Pupilares/terapia , Reflexo Pupilar
16.
Klin Monbl Augenheilkd ; 236(11): 1292-1297, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31416098

RESUMO

With a prevalence of about 2%, drusen papillae are a very frequent papilla anomaly. The pathological mechanism of their origin is unclear. If the ophthalmoscopic image is not unambiguous, it may be helpful to examine relatives, as the heredity exhibits irregular dominance. Calcium deposits are common and can be detected by sonography. Glands can also be detected by OCT in section and by autofluorescence. Precise funduscopy and documentation of the findings and follow-up are very important. There is no therapy for drusen papillae. The internal ocular pressure must be regularly controlled, as glaucoma cannot be identified from the papilla findings. The risk is increased of anterior ischaemia of the optical nerve.


Assuntos
Glaucoma , Drusas do Disco Óptico , Disco Óptico , Humanos , Oftalmoscopia , Tomografia de Coerência Óptica
17.
Klin Monbl Augenheilkd ; 236(11): 1298-1303, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31639882

RESUMO

BACKGROUND: It has been assumed that visual field defects in optic disc drusen slowly increase with age or occur during adolescence and do not change substantially in later years. In our study, we aimed to validate these assumptions. MATERIAL AND METHODS: 255 consecutive cases with optic disc drusen were identified from the patient records of the University Eye Hospital Tübingen; the diagnosis was verified and visual fields were quantified as long as available and of sufficient quality. Additionally, visual acuity was evaluated. RESULTS: In 104 cases, quantifiable visual fields of sufficient quality for both eyes were available. In general, few patients with marked visual field defects could be detected. Only three patients showed visual field defects of ≥ 50% in both eyes. Both eyes were usually involved to approximately the same extent. Older age was correlated with more visual field defects. Only one patient remained below visual acuity of 0.3 in both eyes. DISCUSSION: By means of our patient base, a continuous slight decline in the visual field with age can be assumed. Marked visual field defects were rare. The same was true for visual acuity, which showed some mild decline above the age of 60 years.


Assuntos
Drusas do Disco Óptico , Disco Óptico , Acuidade Visual , Campos Visuais , Adolescente , Idoso , Humanos , Drusas do Disco Óptico/complicações , Testes de Campo Visual
18.
Exp Eye Res ; 176: 210-218, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30003883

RESUMO

The purpose was to evaluate retinal function by measuring pupillary responses to sinusoidal transcorneal electrostimulation in healthy young human subjects. This work also translates data from analogous in vitro experiments and connects it to the pupillary responses obtained in human experiments. 14 healthy human subjects participated (4 males, 10 females); for the in vitro experiments, two male healthy mouse retinas (adult wild-type C57B/6J) were used. Pupillary responses to sinusoidal transcorneal electrostimulation of varying stimulus carrier frequencies (10, 20 Hz; envelope frequency constantly kept at 1.2 Hz) and intensities (10, 20, 50 µA) were recorded and compared with those obtained with light stimulation (1.2 Hz sinusoidal blue, red light). A strong correlation between the sinusoidal stimulation (electrical as well as light) and the pupillary sinusoidal response was found. The difference between the lag of electrical and light stimulation allowed the estimation of an intensity threshold for pupillary responses to transcorneal electrostimulation (mean ±â€¯SD: 30 ±â€¯10 µA (10 Hz); 38 ±â€¯10 µA (20 Hz)). A comparison between the results of the two stimulation frequencies showed a not statistically significant smaller lag for 10 Hz (10 Hz: 633 ±â€¯90 ms; 20 Hz: 725 ±â€¯178 ms; 50 µA intensity). Analogous in vitro experiments on murine retinas indicated a selective stimulation of photoreceptors and bipolar cells (lower frequencies) and retinal ganglion cells (higher frequencies) and lower stimulation thresholds for the retinal network with sinusoidal compared to pulsatile stimulation - emphasizing that sinusoidal waveforms are well-suited to our purposes. We demonstrate that pupillary responses to sinusoidal transcorneal electrostimulation are measurable as an objective marker in healthy young subjects, even at very low stimulus intensities. By using this unique approach, we unveil the potential for an estimation of the individual intensity threshold and a selective activation of different retinal cell types in humans by varying the stimulation frequency. This technique may have broad clinical utility as well as specific relevance in the monitoring of patients with hereditary retinal disorders, especially as implemented in study protocols for novel therapies, e.g. retinal prostheses or gene therapies.


Assuntos
Estimulação Elétrica , Fosfenos/fisiologia , Reflexo Pupilar/fisiologia , Retina/fisiologia , Percepção Visual/fisiologia , Adulto , Animais , Córnea/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Estimulação Luminosa , Células Fotorreceptoras de Vertebrados/fisiologia , Células Bipolares da Retina/fisiologia , Células Ganglionares da Retina/fisiologia
19.
Graefes Arch Clin Exp Ophthalmol ; 255(9): 1837-1842, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28687871

RESUMO

PURPOSE: The pupil light reflex is considered to be a simple subcortical reflex. However, many studies have proven that patients with isolated occipital lesions with homonymous hemianopia show pupillary hemihypokinesia. Our hypothesis is that the afferent pupillary system consists of two pathways: one via intrinsically photosensitive retinal ganglion cells (ipRGCs), the other running through the normal RGCs via the visual cortex. The purpose of this study was to test the hypothesis of these two separate pupillomotor pathways. METHODS: 12 patients (59.1 ± 18.8 years) with homonymous hemianopia due to post-geniculate lesions of the visual pathway and 20 normal controls (58.6 ± 12.9 years) were examined using chromatic pupillography: stimulus intensity was 28 lx corneal illumination, stimulus duration was 4.0 s, and the stimulus wavelengths were 420 ± 20 nm (blue) and 605 ± 20 nm (red), respectively. The examined parameters were baseline pupil diameter, latency, and relative amplitudes (absolute amplitudes compared to baseline), measured at maximal constriction, at 3 s after stimulus onset, at stimulus offset, and at 3 s and 7 s after stimulus offset. RESULTS: The relative amplitudes for the red stimulus were significantly smaller for hemianopia patients compared to the normal controls [maximal constriction: 35.6 ± 5.9% (hemianopia) to 42.3 ± 5.7% (normal); p = 0.004; 3 s after stimulus onset: p = 0.004; stimulus offset: p = 0.001]. No significant differences in any parameter were found between the two groups using the blue stimulus. CONCLUSIONS: The results support the hypothesis that the ipRGC pathway is mainly subcortical, whereas a second, non-ipRGC pathway via the occipital cortex exists.


Assuntos
Encefalopatias/complicações , Técnicas de Diagnóstico Oftalmológico , Hemianopsia/diagnóstico , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Córtex Visual/fisiopatologia , Campos Visuais/fisiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encefalopatias/diagnóstico , Feminino , Hemianopsia/etiologia , Hemianopsia/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mesencéfalo/diagnóstico por imagem , Pessoa de Meia-Idade , Estimulação Luminosa , Reprodutibilidade dos Testes , Células Ganglionares da Retina/fisiologia , Tomografia Computadorizada por Raios X , Córtex Visual/diagnóstico por imagem , Adulto Jovem
20.
J Neuroophthalmol ; 37(3): 247-252, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28708670

RESUMO

OBJECTIVE: The purpose of this study was to evaluate the pupil response to chromatic stimuli in patients with lesions in the dorsal midbrain and possibly gain new insights into the afferent pupillary pathways. METHODS: Color pupillography was performed in 5 patients with dorsal midbrain syndrome (DMS), and their results were compared with those of 20 healthy control subjects. We used full-field red stimuli (605 nm) that primarily address the rod/cone system and blue stimuli (420 nm) that preferentially activate intrinsically photosensitive retinal ganglion cells (ipRGCs) directly, with a duration of 4 seconds and a stimulus intensity of 28 lx corneal illumination under mesopic conditions. One eye was stimulated, and the consensual pupil response was recorded and analyzed. RESULTS: The pupillary light reflex in patients with DMS was reduced, differed in shape, and showed a prolonged latency time compared to normal subjects. The blue response was less affected than the red response: the mean maximal relative amplitude (M) was 15.8% (SD = 7.8) in patients with DMS compared with 43.0% (SD = 5.5) in normal subjects for red stimulation, and M = 40.8%, SD = 8.4 (DMS) with M = 58.3%, SD = 4.8 (normals) for blue stimulation. The reduction was 63% for red stimulation but only 30% for blue stimulation in patients with DMS. Moreover, there was a preserved postillumination pupil response to blue stimulation in DMS patients. CONCLUSIONS: In DMS, the melanopsin-mediated ipRGC pathway appeared relatively preserved.


Assuntos
Técnicas de Diagnóstico Oftalmológico , Mesencéfalo/fisiopatologia , Transtornos da Motilidade Ocular/diagnóstico , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/fisiopatologia , Estimulação Luminosa , Opsinas de Bastonetes/metabolismo , Síndrome , Adulto Jovem
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