Is there any correlation between alpha-synuclein levels in tears and retinal layer thickness in Parkinson's disease?

PURPOSE: To determine the total alpha-synuclein (αSyn) reflex tears and its association with retinal layers thickness in Parkinson's disease (PD). METHODS: Fifty-two eyes of 26 PD subjects and 52 eyes of age-and sex-matched healthy controls were included. Total αSyn in reflex tears was quantified using a human total αSyn enzyme-linked immunosorbent assay (ELISA) kit. The retinal thickness was evaluated with spectral-domain optical coherence tomography. The Movement Disorder Society-Unified Parkinsons Disease Rating Scale (MDS-UPDRS), Non-Motor Symptoms Scale (NMSS), and Montreal Cognitive Assessment (MoCA) were used to assess motor, non-motor, and cognition. RESULTS: In PD, total αSyn levels were increased compared to control subjects [1.76pg/mL (IQR 1.74-1.80) vs 1.73pg/mL (IQR 1.70-1.77), p < 0.004]. The nerve fiber layer, ganglion cell layer, internal plexiform layer, inner nuclear layer, and outer nuclear layer were thinner in PD in comparison with controls (p < 0.05). The outer plexiform layer and retinal pigment epithelium were thicker in PD (p < 0.05). The total αSyn levels positively correlated with the central volume of the inner nuclear layer (r = 0.357, p = 0.009). CONCLUSION: Total αSyn reflex tear levels were increased in subjects with PD compared to controls. PD patients showed significant thinning of the inner retinal layers and thickening of outer retinal layers in comparison with controls. Total αSyn levels positively correlate with the central volume of the inner nuclear layer in PD. The combination of these biomarkers might have a possible role as a diagnostic tool in PD subjects.

Ultrabiomicroscopía ultrasónica y estabilidad de la lente intraocular en pacientes con miopía axial sometidos a cirugía de facoemulsificación.

PURPOSE: To evaluate the stability and the refractive error of the different intraocular lens (IOL) after cataract surgery. METHOD: Retrospective, observational and single-center study. Patients diagnosed with cataract and myopia who underwent a phacoemulsification surgery with intraocular lens placement without complications were included. All patients underwent a complete ophthalmological examination, ultrasound biomicroscopy was performed at 2 weeks, 1 and 3 months after surgery. Descriptive statistics were performed using measures of central tendency and comparative analyzes. A value of p < 0.05 was considered significant. RESULTS: Thirty-one subjects with a diagnosis of axial myopia and senile cataract were included, 20 women (64.5%) and 11 men (35.5%), with a mean age was 62.8 ± 13.14 years. The IOL displacement were not different for the upper, lower, temporal and nasal quadrants; however, we observed a tendency to inclination to the temporal sector (p = 0.054) between the first and third postoperative month. Therefore, the were no significant differences in spherical equivalent between groups postoperatively. CONCLUSIONS: The inclination of the IOL did not change over time after surgery, the changes were similar with the different three types of IOL.

OBJETIVO: Evaluar la estabilidad y el desplazamiento de diferentes lentes intraoculares (LIO) a los 3 meses y los cambios refractivos asociados después de la facoemulsificación. MÉTODO: Estudio retrospectivo, observacional y unicéntrico. Se revisaron expedientes de pacientes sometidos a cirugía de facoemulsificación con colocación de LIO. Se realizó un examen oftalmológico completo, ultrabiomicroscopía a las 2 semanas, 1 y 3 meses después de la cirugía. Se realizó estadística descriptiva y análisis comparativos. Se tomó como diferencia significativa un valor de p < 0.05. RESULTADOS: Se incluyeron 31 ojos con diagnóstico de miopía y catarata senil, 20 mujeres (64.5%) y 11 hombres (35.5%), con una edad media de 62.8 ± 13.14 años. En cuanto al desplazamiento de la LIO, no se observaron diferencias significativas para los cuadrantes superior, inferior, temporal y nasal. Se observa una tendencia hacia temporal (p = 0.054) entre el primer y el tercer mes posoperatorios. El equivalente esférico tampoco mostró diferencias. CONCLUSIONES: El desplazamiento de la LIO no cambió con el tiempo después de la facoemulsificación. Los cambios fueron similares con los tres diferentes tipos de LIO y al compararlos proporcionan estabilidad refractiva en pacientes miopes.

Anxiety, depression, and stress in response to the coronavirus disease-19 pandemic.

OBJECTIVE: The objective of the study was to determine the state of anxiety, depression, and stress present in the society during the development of the 2019 coronavirus pandemic. METHODS: Mixed methods study; a three-section questionnaire was developed which included sociodemographic, perceptions, emotions, and behaviors related to the 2019 coronavirus pandemic, and two emotional assessment psychometric tests. The proportions and confidence intervals of the variables were calculated and compared using the Chi-square test. RESULTS: More than 40% of the subjects presented some degree of anxiety and 41.3% depression; the proportion of stress was < 30%. Of the subjects who experienced anxiety, 18.6% also had moderate-to-very severe depression or stress. CONCLUSION: There are emotional indicators derived from the 2019 coronavirus pandemic in almost half of the study population. The identification and timely treatment of these states could lessen the psychological impact due to 2019 coronavirus.

OBJETIVO: Determinar el estado de ansiedad, depresión y estrés en la sociedad durante el desarrollo de la pandemia de COVID-19. MÉTODO: Estudio de métodos mixtos. Se desarrolló un cuestionario de tres secciones que incluía aspectos sociodemográficos, percepciones, emociones y comportamientos relacionados con la pandemia de COVID-19, y dos pruebas psicométricas de evaluación emocional. Las proporciones y los intervalos de confianza de las variables se calcularon y compararon mediante la prueba de ji al cuadrado. RESULTADOS: Más del 40% de los sujetos presentaron algún grado de ansiedad y el 41,3% de depresión; la proporción de estrés fue inferior al 30%. De los sujetos que experimentaron ansiedad, el 18.6% también tenía depresión o estrés moderado a muy intenso. CONCLUSIÓN: Existen indicadores emocionales derivados de la pandemia de COVID-19 en casi la mitad de la población del estudio. La identificación y el tratamiento oportuno de estos estados podrían disminuir el impacto psicológico debido al COVID-19.

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.

Choroideremia is an X-linked recessive retinal dystrophy characterized by progressive loss of the photoreceptor, the retinal pigment epithelium, and the choriocapillaris layers which ultimately can result in blindness by the fifth decade of life. The disease is caused by mutations in the gene CHM, which encodes a protein involved in the regulation of intracellular vesicular traffic. Typically, hemizygous males are affected by the disease and female carriers are asymptomatic with only a diffuse mottled pattern of hyperpigmentation on funduscopy. Uncommon instances of fully affected females have been described previously and these cases are proposed to arise from an skewed Lyonization mechanism preferentially inactivating the X chromosome carrying the normal CHM allele. In this work, the clinical and molecular features of two Mexican families with choroideremia are described. A novel and a previously described CHM mutation were identified. X-chromosome inactivation assays were performed in a total of 12 heterozygous carriers from the two families. In an affected female from family A, a random X-inactivation pattern was demonstrated; on the other hand, in a female carrier from family B displaying a conspicuous pattern of pigment epithelium mottling at the peripheral retina, a skewed X-inactivation pattern was found. However, the X-chromosome preferentially inactivated in this female was the one carrying the mutated allele. Our results add to the genotypic spectrum in choroideremia and does not support a correlation between X-inactivation status and abnormal retinal phenotype in heterozygous female carriers from these two families.

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

PURPOSE: To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). METHODS: Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiography, and Goldmann kinetic perimetry. Molecular methods included linkage analysis using microsatellites markers located on the markers located on the Wofram syndrome 1 (WFS1) region at 4p16.1, PCR amplification and direct nucleotide sequencing analysis of the complete coding region and exon/intron junctions of WFS1. In addition, allele-specific cloning and sequencing techniques were used to characterize a heterozygous frameshift mutation. RESULTS: The four affected siblings presented with a homogeneous clinical picture characterized by early onset diabetes mellitus, severe optic atrophy, and progressive hearing loss. Linkage analysis indicated that all four sibs were heterozygous for markers linked to the WFS1 region and that each inherited the same allele from the mother and the same from the father, suggesting compound heterozygosity. Direct WFS1 analysis disclosed a paternally inherited novel missense R177P mutation whereas allele-specific cloning and sequencing revealed a novel WFS1 16 bp deletion that was inherited from the mother. CONCLUSIONS: Our report of two novel WFS1 mutations expands the molecular spectrum of Wolfram syndrome. This is the first documented case of the molecular basis of the disease in a Latin American family. Analysis of more patients from this population will establish if compound heterozygosity is commonly found in affected individuals from this ethnic group.

Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas.

PURPOSE: Keratoconus (KC) is a common progressive corneal disease characterized by excessive stromal thinning, central or paracentral conical protrusion, and disruptions in Bowman's layer. The etiology of KC is largely unknown, and a combination of genetic and environmental factors is believed to play a role in the origin of the disease. Recently, the absence of transcripts of the water channel, aquaporin-5 (AQP5), was demonstrated by reverse-transcription polymerase chain reaction (RT-PCR) in KC tissues and was proposed as a possible marker for KC. In this study, we sought to evaluate AQP5 mRNA and protein expression in KC and non-KC corneal tissues using a combination of techniques. METHODS: A total of 69 samples of corneal tissue were analyzed including 39 corneal buttons from patients with advanced KC, 16 samples of non-KC corneal epithelium belonging to patients who underwent surface refractive surgery, 12 sclerocorneal rims obtained from healthy donor subjects, and two healthy corneal buttons. Determination of AQP5 transcript and protein expression patterns was performed by means of real time RT-PCR, immunohistochemistry, immunocytochemistry, and flow cytometry methods. Cell culture was performed to identify AQP5 protein expression in KC epithelial cells. RESULTS: AQP5 mRNA was expressed with no significant differences between KC and non-KC tissues. Moreover, AQP5 protein expression analysis did not reveal differences in protein levels and/or cell location among KC and non-KC tissues. Interestingly, AQP5 expression continues for up to 21 days in the isolated KC corneal epithelial cells. CONCLUSIONS: Our results do not support a role for AQP5 in KC etiopathogeny or as a disease marker. Genetic background differences or a distinct pathogenetic KC cascade specific to the analyzed population could account for the dissimilarities observed in KC-related AQP5 expression.

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution.