Search results for "Cataracts"
showing 10 items of 34 documents
Objective Assessment of Nuclear and Cortical Cataracts through Scheimpflug Images: Agreement with the LOCS III Scale.
2016
Purpose To assess nuclear and cortical opacities through the objective analysis of Scheimpflug images, and to check the correlation with the Lens Opacity Classification System III (LOCS III). Methods Nuclear and cortical opacities were graded according to the LOCS III rules after pupil dilation. The maximum and average pixel intensity values along an elliptical mask within the lens nucleus were taken to analyse nuclear cataracts. A new metric based on the percentage of opaque pixels within a region of interest was used to analyse cortical cataracts. The percentage of opaque pixels was also calculated for half, third and quarter areas from the region of interest’s periphery. Results The maxi…
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
2020
International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…
Imbalance Between Oxidative Stress and Growth Factors in Human High Myopia.
2020
Este artículo se encuentra disponible en la siguiente URL: https://www.frontiersin.org/articles/10.3389/fphys.2020.00463/full Myopia is one of the commonest eye pathologies that could affect 2.56 billion people by 2020. Today high myopia is a leading cause of blindness worldwide due to associated ocular illness. Nevertheless, the cellular bases for these diseases to develop are unclear in many areas. We conducted a prospective study of oxidative stress and growth factors in human myopic and non myopic eyes in an attempt to increase our understanding of the underlying physiopathological conditions to adequately early diagnose, prevent and treat the retina problem that derives from myopia. Aq…
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
2017
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Prevalence of cataract after collagen copolymer phakic intraocular lens implantation for myopia, hyperopia, and astigmatism
2015
Purpose To evaluate the prevalence of cataract after Implantable Collamer Lens phakic intraocular lens (pIOL) implantation with different models at different ages and for different refractive powers. Setting Fernandez-Vega Ophthalmological Institute, Oviedo, Spain. Design Retrospective nonrandomized clinical study. Methods The pIOL (models V4, V4b, or V4c) was implanted in all cases. Results The study included 3420 eyes (1898 patients). The mean patient age at surgery was 31.2 years ± 6.4 (SD) (range 18 to 50 years) and the mean spherical refractive error, −7.27 ± 5.24 diopters (D) (range −26.5 to 12.5 D). Twenty-one eyes (0.61%) of 15 patients had pIOL explantation (all model V4) because c…
Casteldaccia eye study: prevalence of cataract in the adult and elderly population of a Mediterranean town.
1994
Prevalence of cataract was studied in a population based survey performed in adults aged 40 years or more living in Casteldaccia, a small Sicilian town. Lens opacities of moderate or severe grade (type II or worse, according to the Lens Opacity Classification System II) were found at the following rates: nuclear opalescence in 18.5%, cortical cataract in 12.9%, posterior subcapsular cataract in 10.8%. All these types of cataract were much more frequent in the elderly population and were about 1.5 times more common in women than in men. Late cataract was found in about 1/3 of subjects aged 60 to 69 years, in 2/3 of subjects aged 70 or more, but rarely under 60 years of age. However, early ca…
Lens Opacities in Valencia, Spain
2011
Purpose. To evaluate the most common lens opacities in Valencia (Spain), analyzed by gender, grade, and type of cataracts. The results are compared with other studies performed at other geographical latitudes and on different races. Methods. A total of 1951 eyes of patients diagnosed with cataracts, aged between 30 and 96 years, were evaluated in accordance with age, gender, type and degree of the cataract, bilaterality and symmetry of this disease. Lens Opacities Classification System III was used to classify the cataract and the degree was graded as mild or moderate to advanced. Results. The most common type of cataract is corticonuclear in the elderly and subcapsular in younger subjects.…
Senile cataract: a review on free radical related pathogenesis and antioxidant prevention
1990
Abstract Glutathione metabolism plays an essential role in the homeostasis of the lens. Thus, it is not surprising that experimental depletion of this substance leads to a process of lens disorganization similar to senile cataract and that in all types of irreversible cataract there is a decrease in the glutathione content of the lens. Therefore, it may be useful in preventive geriatrics to raise the glutathione concentration of the lens and, since glutathione monoethyl ester can cross the capsule and membranes of the lens, administration of this compound may be the treatment of choice. This could be complemented by long-term administration of small doses of acetylsalicylic acid, in the ear…
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
2013
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle a…