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1.
Ophthalmic Physiol Opt ; 44(5): 819-828, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38682438

RESUMEN

PURPOSE: Previous research highlights the adverse effects of visual impairment (VI) on academic achievement in children, yet its impact on cognitive performance among adolescents and young adults remains under-studied. Therefore, this investigation aimed to analyse this association in a nationwide sample of Israeli adolescents. METHODS: A retrospective population-based cross-sectional study was conducted among 1,410,616 Israeli-born adolescents aged 16-19 years, who were assessed before mandatory military service between 1993 and 2017. The definition of VI was based on best-corrected visual acuity (BCVA) measurements using a standard Snellen chart. Adolescents with BCVA worse than 6/9 in either or both eyes were classified as having unilateral or bilateral VI, respectively. Cognitive performance was measured using the General Intelligence Score (GIS), based on a validated four-domain test. Relationships were analysed using regression models yielding adjusted odds ratios (ORs) for low (<-1 standard deviation [SD]) and high (≥1 SD) cognitive Z-scores. RESULTS: Of 1,410,616 adolescents (56.1% men), 13,773 (1.0%) had unilateral and 3980 (0.3%) had bilateral VI. Unilateral VI was associated with adjusted ORs for low and high cognitive Z-scores of 1.24 (1.19-1.30) and 0.84 (0.80-0.89), respectively. ORs were accentuated for bilateral VI, reaching 1.62 (1.50-1.75) and 0.81 (0.74-0.90) for low and high cognitive Z-scores, respectively. Cognitive performance subscores mirrored these results, with the visual-spatial functioning subtest demonstrating the greatest effect size. These associations persisted in sub-analyses restricted to adolescents with amblyopia-related VI, mild VI and unimpaired health status. CONCLUSIONS: Visual impairment, including mild and unilateral cases, is associated with reduced cognitive performance scores assessed in late adolescence. Further research is required to gain a comprehensive understanding of the dynamics underlying this relationship.


Asunto(s)
Cognición , Trastornos de la Visión , Agudeza Visual , Humanos , Adolescente , Masculino , Femenino , Estudios Transversales , Trastornos de la Visión/epidemiología , Trastornos de la Visión/fisiopatología , Estudios Retrospectivos , Adulto Joven , Cognición/fisiología , Israel/epidemiología
2.
Int Ophthalmol ; 44(1): 157, 2024 Mar 24.
Artículo en Inglés | MEDLINE | ID: mdl-38522059

RESUMEN

PURPOSE: This meta-analysis aimed to review the safety and efficacy of topical cyclosporine A (CsA) and topical tacrolimus in allergic eye disease. METHODS: A systematic search identified thirteen studies and a total of 445 patients for inclusion, making this the largest meta-analysis published on the subject. The current review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). RESULTS: Thirteen randomized control trials were included in the meta-analysis. Eleven studies used CsA as the treatment, and two used Tacrolimus. In total, 445 participants were included, of whom 76.6% were male. The mean age of participants across the included studies was 14 years. All studies reported clinical signs as evaluated by an examining clinician. Signs were usually assessed by anatomical region, with the most common regions being the conjunctiva and the cornea, and the most common signs assessed were hyperemia and papillae. Three studies accounted for more than 50% of the meta-analysis's weight. Effect size (d) ranged from - 2.37 to - 0.03, negative values favoring immunomodulators. Fixed Effect Meta-Analysis returned an SMD of - 0.81 (95% CI [- 0.98, - 0.65]). However, there was significant heterogeneity (I2 = 61%, Qw = 30.76) in the outcome measure (P = 0.0021); therefore, a random-effect meta-analysis was also completed in which the pooled SMD was - 0.98 (95% CI [- 1.26, - 0.69], τ2 = 0.16). CONCLUSIONS: This study affirms the current scientific community's stance that immunomodulators effectively treat clinical signs, including blepharitis, conjunctival hyperemia, edema, papillae, and corneal damage in severe ocular allergic disease.


Asunto(s)
Conjuntivitis Alérgica , Queratoconjuntivitis , Soluciones Oftálmicas , Humanos , Conjuntivitis Alérgica/tratamiento farmacológico , Conjuntivitis Alérgica/diagnóstico , Queratoconjuntivitis/tratamiento farmacológico , Queratoconjuntivitis/diagnóstico , Soluciones Oftálmicas/administración & dosificación , Ciclosporina/administración & dosificación , Ciclosporina/uso terapéutico , Inmunosupresores/administración & dosificación , Inmunosupresores/uso terapéutico , Tacrolimus/administración & dosificación , Administración Tópica , Agentes Inmunomoduladores/administración & dosificación , Factores Inmunológicos/administración & dosificación , Factores Inmunológicos/uso terapéutico
3.
Harefuah ; 163(5): 278-285, 2024 May.
Artículo en Hebreo | MEDLINE | ID: mdl-38734939

RESUMEN

INTRODUCTION: The importance of myopia management lies in the desire to minimize the potential ocular risks that increase with high myopia. AIMS: To assess the decrease in myopia progression using topical low dose atropine combined with peripheral blur contact lenses (CL). METHODS: This retrospective review study included 25 children between the ages of 8.5 years to 14 years. The children all had a minimal increase in myopia of 0.75D during the year prior to treatment. The children were divided into two groups. The control group included 14 children who wore single-vision spectacles )SV) averaging 3.20±0.9D ranging from 1.5-5.3D. The study group included 11 children who wore dual-focus CL, with an average prescription of 3.4±0.7D ranging from 2.5 to 4.3D, for one year. At that point, when an additional myopia increase was observed, the children were additionally treated with topical 0.01% atropine for two years (CL+A0.01). RESULTS: There was an increase in myopia in the SV group of 1.12±0.52D, 1.08±0.56D and 0.96±0.53D in the first, second, and third years, respectively. The myopia increase in the CL+A0.01 group was 0.57±0.48D, 0.14±0.34D, and 0.17±0.29D in the first, second, and third years, respectively. CONCLUSIONS: Low-dose atropine combined with peripheral blur contact lenses was effective in decreasing myopia progression in this study. Additional, larger-scale studies are required in the future. DISCUSSION: This study found a significant decrease in myopia progression in the second and third years of treatment. The CL group showed less effectivity than the CL+A0.01 group.


Asunto(s)
Atropina , Lentes de Contacto , Progresión de la Enfermedad , Miopía , Humanos , Atropina/administración & dosificación , Niño , Miopía/terapia , Miopía/fisiopatología , Estudios Retrospectivos , Adolescente , Masculino , Femenino , Resultado del Tratamiento , Midriáticos/administración & dosificación , Soluciones Oftálmicas/administración & dosificación , Anteojos
4.
Harefuah ; 163(1): 37-42, 2024 Jan.
Artículo en Hebreo | MEDLINE | ID: mdl-38297419

RESUMEN

INTRODUCTION: Artificial intelligence (AI) was first introduced in 1956, and effectively represents the fourth industrial revolution in human history. Over time, this medium has evolved to be the preferred method of medical imagery interpretation. Today, the implementation of AI in the medical field as a whole, and the ophthalmological field in particular, is diverse and includes diagnose, follow-up and monitoring of the progression of ocular diseases. For example, AI algorithms can identify ectasia, and pre-clinical signs of keratoconus, using images and information computed from various corneal maps. Machine learning (ML) is a specific technique for implementing AI. It is defined as a series of automated methods that identify patterns and templates in data and leverage these to perform predictions on new data. This technology was first applied in the 1980s. Deep learning is an advanced form of ML inspired by and designed to imitate the human brain process, constructed of layers, each responsible for identifying patterns, thereby successfully modeling complex scenarios. The significant advantage of ML in medicine is in its' ability to monitor and follow patients with efficiency at a low cost. Deep learning is utilized to monitor ocular diseases such as diabetic retinopathy, age-related macular degeneration, glaucoma, cataract, and retinopathy of prematurity. These conditions, as well as others, require frequent follow-up in order to track changes over time. Though computer technology is important for identifying and grading various ocular diseases, it still necessitates additional clinical validation and does not entirely replace human diagnostic skill.


Asunto(s)
Glaucoma , Oftalmología , Recién Nacido , Humanos , Inteligencia Artificial , Algoritmos , Aprendizaje Automático
5.
Harefuah ; 161(7): 448-453, 2022 Jul.
Artículo en Hebreo | MEDLINE | ID: mdl-35833432

RESUMEN

INTRODUCTION: Presbyopia is the physiological, gradual, progressive loss of the ability to see clearly at near point which affects people as they age. It is primarily caused by the thickening and stiffening of the lens leading to an inability to adjust its shape to become convex enough to induce adequate plus power to see at short distances. Symptoms usually begin affecting individuals around 40 years of age, the most common being discomfort in or around the eyes after prolonged near work, blur at distance after near work, and eventually progressing to near blur, often with a natural tendency to distance the object by holding it farther away to try to see it better. At a certain point near tasks become impossible and the patient will seek an external solution. Various therapies are available and being developed to treat presbyopia, which include glasses, contact lenses, intraocular lens implants, corneal laser procedures, intracorneal implants, scleral alterations and pharmacological ocular drops. Untreated presbyopia negatively affects quality of life as well as the world productivity since presbyopia progresses from approximately an age when people are still an active part of the workforce. As the population and life expectancy grow, so will the number of presbyopes. This article will discuss the various options available to treat presbyopia.


Asunto(s)
Cristalino , Lentes Intraoculares , Presbiopía , Anteojos , Humanos , Presbiopía/terapia , Calidad de Vida
6.
Harefuah ; 160(2): 68-72, 2021 Feb.
Artículo en Hebreo | MEDLINE | ID: mdl-33760405

RESUMEN

INTRODUCTION: The severe acute respiratory syndrome (SARS-CoV-2) or coronavirus disease (COVID-19) is caused by a single-strand RNA virus that first began spreading in December 2019 and evolved to a global pandemic within a few months. It's transmission is primarily through direct contact of the virus with mucous membranes which possess angiotensin-converting enzyme) ACE2(. Ocular manifestations of COVID-19 are extremely rare and there is only evidence of low quantities of ACE2 in ocular tissue. Yet both the environment of the contact lens practice and the wearing of contact lenses present high potential risk of inadvertent infection. The data to date suggests no evidence of contracting COVID-19 through contact lenses and very little data supporting the possibility of coronavirus adherence to the ocular surface. To minimize opportunity for infection, practitioners may decide to delay non-essential visits. When they do examine, clinicians should wear personal protective gear as well as protective shields on equipment and include a thorough disinfecting of surfaces and equipment protocol between each examination. Patients should be reminded about the importance of appropriate contact lens hygene, namely hand washing with soap and water, drying with single use paper prior and after handling of lenses, proper disinfection and replacement of lenses and cases. Patients should not wear lenses when feeling ill and should be advised to consciously refrain from face touching to avoid unintentional contamination. This article reviews the information available to date related to contact lens wearers and their caregivers during this still-evolving crisis.


Asunto(s)
COVID-19 , Lentes de Contacto , Infecciones por Coronavirus , Coronavirus , Humanos , SARS-CoV-2
7.
Exp Eye Res ; 193: 107958, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32032626

RESUMEN

PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. The aim of this study is to advance the clinical and molecular knowledge of SLC38A8 gene mutations. METHODS: Five Israeli families with congenital foveal hypoplasia were studied, two of Karait Jewish origins and three of Indian Jewish origins. Subjects underwent a comprehensive ophthalmic examination including retinal photography and ocular coherence tomography. Molecular analysis including whole exome sequencing and screening of the SLC38A8 gene for specific disease-causing variants was performed. RESULTS: Eight affected individuals were identified, all had congenital nystagmus and all but one had hypoplastic foveal pits. Anterior segment dysgenesis was observed in only one patient, one had evidence of developmental delay and another displayed early age-related macular degeneration (AMD). Molecular analysis revealed a recently described homozygous mutation, c.95T > G; p.Ile32Ser, in two families of Jewish Indian descent, and the same mutation in two families of Karaite Jewish descent. In a patient with only one pathogenic mutation (c.95T > G; p.Ile32Ser), a possible partial clinical expression of the disorder was seen. One patient of Jewish Indian descent was found to be compound heterozygous for c.95T > G; p.Ile32Ser and a novel mutation c.490_491delCT; p.L164Vfs*41. CONCLUSIONS: In five unrelated families with congenital nystagmus and foveal hypoplasia, mutations in the SLC38A8 gene were identified. Possible partial expression in a heterozygous patient was observed and novel potential disease-related phenotypes were identified including early-onset AMD and developmental delay. A novel mutation was also identified and a similar mutation in both Indian and Karaite Jewish ethnicities could be suggestive for common ancestry.


Asunto(s)
Sistemas de Transporte de Aminoácidos Neutros/genética , ADN/genética , Fóvea Central/patología , Nistagmo Congénito/genética , Nervio Óptico/patología , Polimorfismo de Nucleótido Simple , Adolescente , Adulto , Anciano , Sistemas de Transporte de Aminoácidos Neutros/metabolismo , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Nistagmo Congénito/diagnóstico , Nistagmo Congénito/metabolismo , Nervio Óptico/metabolismo , Linaje , Fenotipo , Tomografía de Coherencia Óptica , Adulto Joven
8.
Harefuah ; 159(12): 892-897, 2020 Dec.
Artículo en Hebreo | MEDLINE | ID: mdl-33369305

RESUMEN

BACKGROUND: Several significant visual changes can occur during human aging. These include decreased visual acuity and binocular function, contraction of visual fields, presbyopia, dry eye, decreased contrast sensitivity, decreased dark adaptation, delayed glare recovery, change in color vision and decreased visual processing speed. The most common physical changes are decreased pupil size, decreased retinal luminance, changes in inter- and intracellular connections, both intra-retinal and connections to the cortex .There are changes both in quantity and physical location of various cells, such as photoreceptors ganglion and bipolar retinal cells, as well as changes in clarity of media such as the crystalline lens, all of which in turn cause the resulting visual changes. Among adversely affected tasks are near work such as reading and computer work, driving, maneuvering through crowded or unfamiliar surroundings, locating desired objects surrounded by clutter and even decreased balance ability that may cause falling. Some of the changes can be reversed or at least slowed, but some processes cannot be stopped. Some of the options at our disposal to help the patient can vary from early prevention, using single or a combination of external devices such as optical devices and various forms of medical treatments, surgical and other. Although the visual system is affected by other senses, vision also affects other systems in the body. The objective here is to isolate specifically visual-related changes that can occur as healthy people age and thereby expand the vocabulary and dialogue between health care providers with ophthalmologists and optometrists for ultimate better patient care. The following review attempts to present a brief current update of the accumulated data describing various physiological visual changes that can occur with aging in generally healthy individuals and in this article, disregards the effects of ocular diseases, even if they are usually associated with age.


Asunto(s)
Sensibilidad de Contraste , Cristalino , Envejecimiento , Humanos
10.
Harefuah ; 156(11): 720-724, 2017 Nov.
Artículo en Hebreo | MEDLINE | ID: mdl-29198091

RESUMEN

INTRODUCTION: Myopia is the most common refractive error and is now endemic over the entire industrial world, particularly in Asia. High myopia is one of the major causes of blindness in the world. Slowing the progress of myopia is possible, the most effective treatment being atropine ophthalmic drops, given in a dose-dependent fashion. Although high-dose atropine (1% and 0.5%) was found to be highly effective in slowing myopia progression, low-dose atropine (0.01%) was found to have the lowest rebound effect (accelerated myopia progression after treatment cessation) and was therefore, the most effective treatment in the long term. Moderately effective treatments include pirenzepine drops, cyclopentolate drops, orthokeratology, contact lenses which are designed to reduce the peripheral hyperopic blur and distance-center soft multifocal contact lenses. Less effective treatments include multifocal spectacle lenses, bifocal spectacle lenses, bifocal soft contact lenses and outdoor activity in daylight. Visual therapy, biofeedback, full-spectacle correction, under-correction, spectacles designed to reduce the peripheral hyperopic blur, single-vision rigid gas-permeable contact lenses, single-vision soft contact lenses, tropicamide drops and timolol drops were all found to be ineffective.


Asunto(s)
Miopía/prevención & control , Atropina/uso terapéutico , Lentes de Contacto Hidrofílicos/estadística & datos numéricos , Progresión de la Enfermedad , Anteojos , Humanos , Timolol/uso terapéutico
11.
Graefes Arch Clin Exp Ophthalmol ; 254(2): 395-8, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26686513

RESUMEN

PURPOSE: The precise correction of refractive error is especially important in young adults. It is unclear whether cycloplegic refraction is necessary in this age group. The purpose of this study was to compare the non-cycloplegic and cycloplegic spherical equivalent (SE) refractive error measured in young adults. METHODS: This was a prospective study of 1400 eyes (n = 700) of enlisted soldiers aged 18 to 21 years who were consecutively evaluated in an outpatient army ophthalmology clinic. One drop of cyclopentolate 1 % was installed twice 10 min apart, and cycloplegic refraction was performed in both eyes 40 min later using an auto-refractor. The difference between non-cycloplegic and cycloplegic refractive measurements was analyzed. RESULTS: The mean difference in SE between non-cycloplegic and cycloplegic measurements was 0.68 ± 0.83 D (95 % CI, 0.64-0.72). Significantly greater differences were observed in hypermetropes than myopes (1.30 ± 0.90 D versus 0.46 ± 0.68 D, p < 0.001). Moderate hypermetropes (2 to 5 D) demonstrated significantly greater refractive error than mild (0.5 to 2 D) or severe (>5 D) hypermetropes (1.71 ± 1.18 D versus 1.19 ± 0.74 D and 1.16 ± 1.08 D respectively, p < 0.001). CONCLUSIONS: Young hypermetropic adults possessed +1 to +2 D of latent hypermetropia. In contrast, young myopic adults revealed pseudomyopia of -0.5 D. Cycloplegic refraction should be performed in young hypermetropic adults complaining of various signs of asthenopia.


Asunto(s)
Ciclopentolato/administración & dosificación , Hiperopía/diagnóstico , Midriáticos/administración & dosificación , Miopía/diagnóstico , Refracción Ocular/fisiología , Adolescente , Femenino , Humanos , Hiperopía/fisiopatología , Masculino , Personal Militar , Miopía/fisiopatología , Estudios Prospectivos , Pupila/efectos de los fármacos , Retinoscopía , Adulto Joven
12.
Cornea ; 2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38950071

RESUMEN

PURPOSE: To report our experience with systemic cyclosporine as a treatment for severe vernal keratoconjunctivitis (VKC) in pediatric patients who did not respond to previous treatments. METHODS: We analyzed the medical records of 6 patients, aged 4 to 15 years, with severe VKC treated with systemic cyclosporine for VKC at Shamir Medical Center in Zerifin, Israel, between the years 2000 and 2023. The average treatment duration was 18 months. In all patients, previous treatments with antihistamines, mast cells stabilizers, topical steroids and topical cyclosporine, and systemic steroids did not result in sufficient improvement. The severity of inflammation was evaluated during clinical examinations and the patients' subjective assessment of their quality of life. RESULTS: In all 6 patients, signs and symptoms showed significant improvement within 2 to 4 weeks of initiating systemic cyclosporine treatment. All patients were able to discontinue regular steroids use and reported a significant improvement in their quality of life. No significant side effects were observed in any of the patients. CONCLUSIONS: Systemic cyclosporine is a safe and effective treatment for severe VKC. It is a steroid-sparing treatment that allows good quality of life, while keeping the disease latent.

13.
J Pediatr Ophthalmol Strabismus ; 61(3): 204-210, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38112389

RESUMEN

PURPOSE: To ascertain the effectiveness of 0.01% atropine treatment to inhibit myopia progression and the possible additive potency with peripheral defocus contact lenses over 3 years and the rebound effect 1 year after cessation of treatment. METHODS: This prospective study included 127 children aged 8 to 5 years, divided into three treatment groups: 0.01% atropine and single-vision spectacles (At+SV, n = 36), 0.01% atropine and peripheral defocus contact lens (At+PDCL, n = 30), and 0.01% atropine and dual-focus contact lens (At+DF, n = 25). A control group was prescribed single-vision spectacles (n = 36). Cycloplegic spherical equivalence refraction was measured every 6 months during 3 years of treatment and 1 year after cessation. RESULTS: Myopia progression decreased over 3 years of treatment, more during the second and third years than the first year, to a statistically significant degree in the atropine groups (P < .01): in the first, second, and third years, respectively, -0.42 ± 0.34, -0.19 ± 0.18, -0.22 ± 0.19 diopters (D) in the At+SV group, -0.26 ± 0.21, -0.14 ± 0.37, and -0.15 ± 0.31 D in the At+PDCL group, and -0.22 ± 0.15, -0.15 ± 0.22, and -0.11 ± 0.14 D in the At+DF group. Myopia progressed 1 year after cessation of treatment: -0.29 ± 0.28 D in the At+SV group, -0.13 ± 0.28 D in the At+PDCL group, and -0.09 ± 0.18 D in the At+DF group. After 3 years, there was no statistically significant difference in myopia progression between the At+SV and At+PDCL or At+DF groups (P < .05). CONCLUSIONS: Low-dose atropine has been substantiated in this cohort as an effective treatment to decelerate myopia progression over 3 years, more effective in the second and third years of treatment. The combination treatment did not exhibit a statistically significant advantage over monotherapy in this cohort. The At+DF group exhibited a statistically lower rebound effect than the At+SV group. [J Pediatr Ophthalmol Strabismus. 2024;61(3):204-210.].


Asunto(s)
Atropina , Progresión de la Enfermedad , Anteojos , Midriáticos , Refracción Ocular , Humanos , Atropina/administración & dosificación , Estudios Prospectivos , Niño , Masculino , Refracción Ocular/fisiología , Femenino , Midriáticos/administración & dosificación , Estudios de Seguimiento , Miopía/fisiopatología , Miopía/terapia , Soluciones Oftálmicas , Preescolar , Resultado del Tratamiento , Lentes de Contacto
14.
Vision (Basel) ; 8(1)2024 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-38391084

RESUMEN

This retrospective study evaluates the effectiveness of combining 0.05% atropine with MF60 contact lenses in managing rapid myopia progression in children over one year. The study involved three groups: the treatment group (TG) with 15 children (53% male, average age 12.9 ± 1.04), the MF group (MF) with 12 children (50% male, average age 12.8 ± 0.8) using only MF60 lenses, and the control group (CG) with 14 children (43% male, average age 12.1 ± 0.76). Baseline myopia and axial length (AL) were similar across groups, with the TG, MF, and CG showing -4.02 ± 0.70 D, -4.18 ± 0.89 D, -3.86 ± 0.99 D, and 24.72 ± 0.73 mm, 24.98 ± 0.70 mm, 24.59 ± 1.02 mm, respectively. Prior to the study, all groups exhibited significant myopia and AL progression, with no previous myopia control management. The treatment involved daily 0.05% atropine instillation, the use of MF60 lenses and increased outdoor activity. Biannual cycloplegic refraction and slit lamp evaluations confirmed no adverse reactions. After one year, the TG showed a significant reduction in myopia and AL progression (-0.43 ± 0.46 D, p < 0.01; 0.22 ± 0.23 mm, p < 0.01), whereas the CG showed minimal change (-1.30 ± 0.43 D, p = 0.36; 0.65 ± 0.35 mm, p = 0.533). The MF group also exhibited a notable decrease (-0.74 ± 0.45 D, p < 0.01; 0.36 ± 0.23 mm). Increased outdoor activity during the treatment year did not significantly impact myopia control, suggesting its limited additional effect in this cohort. The study concludes that the combination of 0.05% atropine and peripheral defocus soft contact lenses effectively controls myopia progression in children.

15.
Am J Hum Genet ; 87(5): 694-700, 2010 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-21035105

RESUMEN

Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the +/jc to jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.


Asunto(s)
Proteínas Portadoras/genética , Discapacidad Intelectual/genética , Proteínas Nucleares/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Femenino , Humanos , Cariotipificación , Sistema Límbico/metabolismo , Masculino , Metaloproteínas/genética , Ratones , Mutación , Linaje , Trastornos Psicóticos/genética , Síndrome
16.
Eur J Ophthalmol ; : 11206721231211465, 2023 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-37899737

RESUMEN

PURPOSE: Myopia management is practiced by ophthalmologists and optometrists. This study evaluated the approach and standard of myopia management among eye-care practitioners (ECPs) in Israel. The findings may ultimately affect the quality of care. METHODS: A questionnaire was sent to 954 optometrists and 365 ophthalmologists, including demographic questions; whether they owned any devices to monitor myopia progression; the lowest progression they considered significant; various questions pertaining to myopia management and treatment methods. RESULTS: Responses from 135 optometrists and 126 ophthalmologists were collected, the majority practicing more than five years; 94% of optometrists, and 64% of ophthalmologists. Around 53% of optometrists and 27% of the ophthalmologists proclaimed to practice myopia management. ECPs primary parameters influencing risk assessment for progression were age, genetic background and history of progression. Time outdoors, during daylight hours, is advised by ophthalmologists (97%) and optometrists (78%). Limiting screentime is encouraged by 87% of ophthalmologists and 69% of optometrists. Myopia progression of 0.50D-0.75D after six months is regarded to require intervention by 93% of ophthalmologists and 83% of optometrists. Optometrists selected multiple myopia management treatments, primarily optical (ophthalmic myopia management lenses 40%, multifocal ophthalmic lenses 24%, peripheral blur contact lenses 38%, orthokeratology 11%), while 95% of ophthalmologists chose atropine and only 3-11% selected any additional treatments to consider. CONCLUSION: This study highlighted ECPs' agreement on the principles, importance of, and timeline of intervention with myopia management. The disconnect between the two professions lies in management methods. Genuine dialogue and co-management should be encouraged for maximum implementation, benefit and effectiveness of available patient treatments.

17.
Taiwan J Ophthalmol ; 13(2): 231-237, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37484626

RESUMEN

PURPOSE: To assess the additive potency of low-dose atropine combined with optical measures designed to decrease myopia progression. MATERIALS AND METHODS: This retrospective study included 104 myopic children aged 5-12 over 4 years, divided into five groups: daily instillation of 0.01% atropine and distance single-vision spectacles (A), 0.01% atropine and progressive addition lenses (A + PAL), 0.01% atropine and soft contact lens with peripheral blur (A + CL). Two control groups were included, prescribed bifocal spectacles or single vision (SV) spectacles. Cycloplegic spherical equivalence refraction was measured biannually, including 1 year after cessation of treatment. RESULTS: A significant decrease in myopia progression was noted during the 2nd and 3rd years of atropine treatment: A -0.55 ± 0.55D, -0.15 ± 0.15, -0.12 ± 0.12D were 1st, 2nd, 3rd years, respectively, A + PAL -0.47 ± 0.37D, -0.10 ± 0.25D, and -0.11 ± 0.25D were 1st, 2nd, 3rd years, respectively, A + CL -0.36 ± 0.43D, -0.13 ± 0.29D, and -0.10 ± 0.27D were 1st, 2nd, 3rd years, respectively. Myopia progression over 3 years, respectively, was -0.82 ± 0.50D, -0.70 ± 0.69D, -0.59 ± 0.66D in the bifocal group and -1.20 ± 1.28D, -0.72 ± 0.62D, -0.65 ± 0.47D in the SV group. One year after cessation of atropine treatment, myopia progression was - 0.32 ± 0.31D in A, -0.23 ± 0.28D in A + PAL, and -0.18 ± 0.35D in A + CL. CONCLUSION: Atropine 0.01% presented as effective at decelerating myopia progression, more prominent in the 2nd and 3rd years of treatment. Combining atropine 0.01% with optical modalities exhibited a trend for added efficacy over monotherapy. A + CL exhibited the least rebound effect 1 year after cessation of treatment.

18.
Korean J Ophthalmol ; 37(1): 70-81, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36796348

RESUMEN

Myopia is the most common refractive error in the world, and its' prevalence continually increases. The potential pathological and visual complications of progressive myopia have inspired researchers to study the sources of myopia, axial elongation, and explore modalities to arrest progression. Considerable attention has been given over the past few years to the myopia risk factor known as hyperopic peripheral blur, the focus of this review. The primary theories currently believed to be the cause of myopia, the parameters considered to contribute and influence the effect of peripheral blur, such as the surface retinal area or depth of blur will be discussed. The currently available optical devices designed to provide peripheral myopic defocus will be discussed, including bifocal and progressive addition ophthalmic lenses, peripheral defocus single vision ophthalmic lenses, orthokeratology lenses, and bifocal or multifocal center distance soft lenses, as well as their effectivity as mentioned in the literature to date.


Asunto(s)
Hiperopía , Cristalino , Miopía Degenerativa , Humanos , Retina , Anteojos , Refracción Ocular
19.
Taiwan J Ophthalmol ; 13(3): 285-292, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38089507

RESUMEN

Myopia is the most common refractive error in the world and has reached a pandemic level. The potential complications of progressive myopia have inspired researchers to attempt to understand the sources of myopia and axial elongation and to develop modalities to arrest progression. Considerable attention has been given over the past few years to the myopia risk factor known as hyperopic peripheral blur, which is the focus of this review. It will discuss the primary theories believed to be the cause of myopia and the parameters considered to contribute to and influence the effect of peripheral blur, such as the surface retinal area of blur or the depth of blur. The multitude of optical devices designed to provide peripheral myopic defocus will be mentioned, including bifocal and progressive addition ophthalmic lenses, peripheral defocus single-vision ophthalmic lenses, orthokeratology lenses, and bifocal or multifocal center distance soft lenses, as well as their effectivity as discussed in the literature to date.

20.
ScientificWorldJournal ; 2012: 821802, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22654632

RESUMEN

PURPOSE: To compare the 10-2 SITA-standard and SITA-fast visual field programs in patients with glaucoma. METHODS: We enrolled 26 patients with open angle glaucoma with involvement of at least one paracentral location on 24-2 SITA-standard field test. Each subject performed 10-2 SITA-standard and SITA-fast tests. Within 2 months this sequence of tests was repeated. RESULTS: SITA-fast was 30% shorter than SITA-standard (5.5 ± 1.1 vs 7.9 ± 1.1 minutes, P < 0.001). Mean MD was statistically significantly higher for SITA-standard compared with SITA-fast at first visit (Δ = 0.3 dB, P = 0.017) but not second visit. Inter-visit difference in MD or in number of depressed points was not significant for both programs. Bland-Altman analysis showed that clinically significant variations can exist in individual instances between the 2 programs and between repeat tests with the same program. CONCLUSIONS: The 10-2 SITA-fast algorithm is significantly shorter than SITA-standard. The two programs have similar long-term variability. Average same-visit between-program and same-program between-visit sensitivity results were similar for the study population, but clinically significant variability was observed for some individual test pairs. Group inter- and intra-program test results may be comparable, but in the management of the individual patient field change should be verified by repeat testing.


Asunto(s)
Algoritmos , Glaucoma de Ángulo Abierto/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados
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