Neuro-Ophthalmologic Evaluation as a Biomarker for Diagnosis and Progression in Parkinson Disease

Objectives: The purpose of current neuro-ophthalmologic research is to evaluate visual dysfunction and its correlation with structural changes in the retina of patients with Parkinson’s disease and to examine whether there is an association between retinal thinning and disease progression

An unusual case of testicular disorder in sex development of arabian mare (64,xx sry-negative)

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures

Functional Evaluation of the Visual Pathway in Patients with Multiple Sclerosis Using a Multifunction Stimulator Monitor

Objectives. To assess the capability of the vision monitor unit Monpack One of detecting visual function alterations in patients with multiple sclerosis (MS) and to evaluate the correlation between structural retinal parameters and functional measurements obtained with this device. Methods. Forty-eight patients with MS and 46 healthy controls were included in a cross-sectional study. All participants underwent a complete functional evaluation of the visual pathway, which included low-contrast visual acuity (LCVA), contrast sensitivity vision (CSV), automated perimetry, multifocal visual evoked potentials (mfVEPs), and pattern electroretinogram (ERG). All tests were performed using the vision monitor unit Monpack One (Metrovision, France), a multifunction stimulator device. Retinal structural measurements were obtained in all subjects using Triton swept source optical coherence tomography (Topcon, Japan). Results. Patients with MS presented reduced low-contrast VA (p<0.001) and reduced CSV at medium (p=0.001, p=0.013) and low (p=0.001, p=0.002) spatial frequencies. All visual field parameters were found to be altered in MS patients compared with controls (<= 0.001). Patients with MS presented lower amplitude of the P100 waveform of the mfVEP in areas corresponding to central (p<0.001), inferonasal (p=0.001), and inferotemporal (p=0.003) retina. The pattern ERG did not show significant differences. Significant correlations were observed between structural retinal measurements and functional parameters, especially between the inner macular areas and measurements corresponding to contrast sensitivity and perimetry indexes. Conclusions. Patients with MS present visual dysfunction detectable with the vision monitor unit Monpack One. This device may be a fast and useful tool to provide a full evaluation of axonal damage in patients with multiple sclerosis

Actualización sobre alteraciones de función visual y espesores coriorretinianos en la enfermedad de Parkinson

La enfermedad de Parkinson (EP) es un proceso neurodegenerativo que afecta a unos 7, 5 millones de personas en el mundo. Desde 2004, varios estudios han demostrado cambios en el espesor de diversas capas de la retina en la EP utilizando tomografía de coherencia óptica (OCT). Sin embargo, existen resultados contradictorios entre los diferentes estudios. Algunos de ellos relacionan los espesores retinianos con la severidad o duración de la enfermedad, lo cual convierte a las mediciones de la OCT en biomarcadores de progresión de la EP, inocuos y de fácil adquisición. También existen estudios que demuestran pérdida de capacidad o función visual desde fases tempranas de la enfermedad. Por último, los estudios más recientes que utilizan OCT de tecnología Swept Source demuestran aumento del espesor coroideo en la EP y aportan nueva información relacionada con el proceso degenerativo retiniano en esta enfermedad. Este trabajo pretende revisar la bibliografía existente sobre OCT y EP con el fin de determinar los parámetros retinianos y coroideos alterados en la EP y su posible utilidad clínica, así como analizar cuáles son las disfunciones visuales más relevantes en estos pacientes. Parkinson''s disease (PD) is a neurodegenerative process that affects 7.5 million people around the world. Since 2004, several studies have demonstrated changes in various retinal layers in PD using optical coherence tomography (OCT). However, there are some discrepancies in the results of those studies. Some of them have correlated retinal thickness with the severity or duration of the disease, demonstrating that OCT measurements may be an innocuous and easy biomarker for PD progression. Other studies have demonstrated visual dysfunctions since early phases of the disease. Lastly, the most recent studies that use Swept Source OCT technology, have found choroidal thickness increase in PD patients and provide new information related to the retinal degenerative process in this disease. The aim of this paper is to review the literature on OCT and PD, in order to determine the altered retinal and choroidal parameters in PD and their possible clinical usefulness, and also the visual dysfunctions with higher impact in these patients

Angiography with optical coherence tomography as a biomarker in multiple sclerosis

Purpose To investigate superficial retinal microvascular plexuses detected by optical coherence tomography angiography (OCT-A) in multiple sclerosis (MS) subjects and compare them with healthy controls. Methods A total of 92 eyes from 92 patients with relapsing-remitting MS and 149 control eyes were included in this prospective observational study. OCT-A imaging was performed using Triton Swept-Source OCT (Topcon Corporation, Japan). The vessel density (VD) percentage in the superficial retinal plexus and optic disc area (6 x 6 mm grid) was measured and compared between groups. Results MS patients showed a significant decrease VD in the superior (p = 0.005), nasal (p = 0.029) and inferior (p = 0.040) parafoveal retina compared with healthy subjects. Patients with disease durations of more than 5 years presented lower VD in the superior (p = 0.002), nasal (p = 0.017) and inferior (p = 0.022) parafoveal areas compared with healthy subjects. Patients with past optic neuritis episodes did not show retinal microvasculature alterations, but patients with an EDSS score of less than 3 showed a significant decrease in nasal (p = 0.024) and superior (p = 0.006) perifoveal VD when compared with healthy subjects. Conclusions MS produces a decrease in retinal vascularization density in the superficial plexus of the parafoveal retina. Alterations in retinal vascularization observed in MS patients are independent of the presence of optic nerve inflammation. OCT-A has the ability to detect subclinical vascular changes and is a potential biomarker for diagnosing the presence and progression of MS

Analysis of Retinal Layers in Fibromyalgia Patients with Premium Protocol in Optical Tomography Coherence and Quality of Life

Purpose To evaluate the inner retinal layers in fibromyalgia (FM) patients compared to control subjects using posterior pole protocol (PPole) analysis in optical coherence tomography (OCT) and to correlate structural retinal changes with subjective quality of life. Methods Seventy-four eyes of healthy subjects and 55 eyes of those with FM were analyzed. All subjects underwent retinal evaluation using the PPole protocol for Spectralis OCT (Heidelberg Engineering) to obtain measurements of the retinal nerve fiber layer (RNFL) and the ganglion cell layer (GCL) in the macular area. The EuroQol (EQ-5D) questionnaire and Fibromyalgia Impact Questionnaire (FIQ) were performed to analyze health-related quality of life. Additionally, the FM group was divided into three groups depending on the disease phenotype (atypical, depressive, and biological). Results Patients with FM presented with a reduction of the RNFL thickness compared to controls in 17/64 cells of the PPole area, and a reduction of the GCL thickness in 47/64 cells. Depressive FM phenotype showed the greatest number of cells with significant reduction compared with the control group in both RNFL and GCL layers. A correlation between temporal-inferior cells of the GCL and the EuroQol 5D questionnaire results was observed. Conclusions Patients with FM present with a reduction of the inner retinal layers in the macular area. This degeneration correlates with disease severity/reduced quality of life in these patients. The PPole protocol for OCT is a non-invasive and fast tool that might help clinicians diagnose and monitor neurodegeneration in FM patients

Relationship between visual dysfunction and retinal changes in patients with multiple sclerosis.

Aim To evaluate structural changes in the retina and their correlation with visual dysfunction in patients with multiple sclerosis. Methods Patients with multiple sclerosis (n = 84) and healthy controls (n = 84) underwent structural eval- uation of the retinal nerve fiber layer, and macular and ganglion cell layer thicknesses using Spectral domain optical coherence tomography (SD-OCT). All subjects underwent high and low contrast visual acuity, color vision (using the Farnsworth and L ´Anthony desaturated D15 color tests), and contrast sensitivity vision using the Pelli Robson chart and CSV 1000E test. Results Macular, retinal nerve fiber layer, and ganglion cell layer thinning was observed in multiple sclerosis patients compared to healthy controls (p<0.05). High- and low-contrast visual acu- ity and contrast sensitivity vision at four different spatial frequencies were significantly reduced in comparison with healthy subjects (p<0.05). Macular, retinal nerve fiber layer and ganglion cell layer measurements correlated with high and low contrast visual acuity, and contrast sensitivity vision. Contrast sensitivity vision was the functional parameter that most strongly correlated with the structural measurements in multiple sclerosis and was associ- ated with ganglion cell layer measurements. The L ´Anthony color vision score (age-cor- rected color confusion index) was associated with macular measurements. Conclusions Patients with multiple sclerosis had visual dysfunction that correlated with structural changes evaluated by SD-OCT. Macular and ganglion cell layer measurements may be good indicators of visual impairment in multiple sclerosis patients

Retinal and Optic Nerve Degeneration in Patients with Multiple Sclerosis Followed up for 5 Years

Purpose: To quantify retinal nerve fiber layer (RNFL) changes in patients with multiple sclerosis (MS) and healthy controls with a 5-year follow-up and to analyze correlations between disability progression and RNFL degeneration. Design: Observational and longitudinal study. Participants: One hundred patients with relapsing-remitting MS and 50 healthy controls. Methods: All participants underwent a complete ophthalmic and electrophysiologic exploration and were re-evaluated annually for 5 years. Main Outcome Measures: Visual acuity (Snellen chart), color vision (Ishihara pseudoisochromatic plates), visual field examination, optical coherence tomography (OCT), scanning laser polarimetry (SLP), and visual evoked potentials. Expanded Disability Status Scale (EDSS) scores, disease duration, treatments, prior optic neuritis episodes, and quality of life (QOL; based on the 54-item Multiple Sclerosis Quality of Life Scale score). Results: Optical coherence tomography (OCT) revealed changes in all RNFL thicknesses in both groups. In the MS group, changes were detected in average thickness and in the mean deviation using the GDx-VCC nerve fiber analyzer (Laser Diagnostic Technologies, San Diego, CA) and in the P100 latency of visual evoked potentials; no changes were detected in visual acuity, color vision, or visual fields. Optical coherence tomography showed greater differences in the inferior and temporal RNFL thicknesses in both groups. In MS patients only, OCT revealed a moderate correlation between the increase in EDSS and temporal and superior RNFL thinning. Temporal RNFL thinning based on OCT results was correlated moderately with decreased QOL. Conclusions: Multiple sclerosis patients exhibit a progressive axonal loss in the optic nerve fiber layer. Retinal nerve fiber layer thinning based on OCT results is a useful marker for assessing MS progression and correlates with increased disability and reduced QOL

Evaluation of progressive visual dysfunction and retinal degeneration in patients with parkinson’s disease

PURPOSE. To quantify changes in visual function parameters and in the retinal nerve fiber layer and macular thickness over a 5-year period in patients with Parkinson’s disease (PD). METHODS. Thirty patients with PD and 30 healthy subjects underwent a complete ophthalmic evaluation, including assessment of visual acuity, contrast sensitivity vision, color vision, and retinal evaluation with spectral-domain optical coherence tomography (SD-OCT). All subjects were reevaluated after 5 years to quantify changes in visual function parameters, the retinal nerve fiber layer, and macular thickness. Association between progressive ophthalmologic changes and disease progression was analyzed. RESULTS. Changes were detected in visual function parameters and retinal nerve fiber layer thickness in patients compared with controls. Greater changes were found during the follow-up in the PD group than healthy subjects in visual acuity, contrast sensitivity, Lanthony color test (P < 0.016), in superotemporal and temporal retinal nerve fiber layer sectors (P < 0.001), and in macular thickness (all sectors except inner superior and inner inferior sectors, P < 0.001). Progressive changes in the retinal nerve fiber layer were associated with disease progression (r = 0.389, P = 0.028). CONCLUSIONS. Progressive visual dysfunction, macular thinning, and axonal loss can be detected in PD. Analysis of the macular thickness and the retinal nerve fiber layer by SD-OCT can be useful for evaluating Parkinson’s disease progression