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BACKGROUND: Visually impaired and blind adolescents fare poorly in educational attainment compared to adolescents without vision impairment. Rehabilitation holds the potential to compensate for the hindrances that the impairment causes. Many rehabilitation initiatives exist. However, the efficacy of these initiatives remains uncertain. This systematic review assessed which rehabilitation initiatives improve participation in an educational setting for visually impaired and blind adolescents. METHODS: PubMed, Embase, Scopus, Cinahl, and Cochrane library databases were searched. Only primary studies as randomized controlled trial (parallel group or crossover), cohort studies, case-control studies, qualitative studies, and case-studies were included. Data on the study characteristics, visual impairment, type of intervention, research question, main findings, and implications for practice were extracted from the papers. Critical appraisal was performed using the Critical Appraisal Checklist for Qualitative Research and the Checklist for Quasi-Experimental Studies both from the Joanna Briggs Institute. The data extraction and the critical appraisal were performed independently by two reviewers. RESULTS: A total of 10 studies with visually impaired and blind adolescents were considered eligible, from an original search result of 3210 studies. In the thematic analysis we identified a heightened focus on different means for studying by making the curriculum content more accessible by applying different audio, tactile, or electronic devices (n = 8). A minor focus in the identified studies (n = 2) was placed on the impact of support from the environment on the development of literacy, for example the support from teachers or parents. Outcome parameters representing more diverse rehabilitation initiatives have not been adequately investigated in the literature. The scientific evidence that we identified was based on few publications with contradictory results and some studies were of questionable quality, limiting the applicability of their findings. CONCLUSIONS: Overall, the review identified a gap in the evidence regarding rehabilitation initiatives for visually impaired and blind adolescents that enables participation in an educational setting. The overall quality assessment of the 10 studies identified several risks of bias, for which reason the current scientific evidence does not qualify as a basis for decision making, leaving the adolescents in a heightened risk to fall even further behind in the educational system. Further high quality randomized controlled trials are required to establish high-quality evidence.
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Baixa Visão , Pessoas com Deficiência Visual , Humanos , Adolescente , Cegueira , Pesquisa Qualitativa , EscolaridadeRESUMO
SIGNIFICANCE: We report on photoaversion and patient-reported quality of life in Danish patients with achromatopsia and evaluate the best optical rehabilitation. Our results contribute to the evaluation of outcome measures in therapy trials and aid in providing the best optical rehabilitation for patients with this and clinically similar conditions. PURPOSE: This study aimed to investigate the vision-related quality of life, the impact of photoaversion on daily living, and the best optical rehabilitation in a cohort of achromatopsia patients, including testing the hypothesis that red light-attenuating filters are generally preferred. METHODS: Patients with genetically verified achromatopsia were recruited. Investigations included the 25-item Visual Function Questionnaire and supplementary questions regarding photoaversion and visual aids. Patients were evaluated by a low vision optometrist and given the choice between different light-attenuating filters. First, two specially designed red and gray filters both transmitting 6% light, and then a pre-defined broader selection of filters. Best-corrected visual acuity and contrast sensitivity were measured without filters and with the two trial filters. RESULTS: Twenty-seven patients participated. Median 25-item Visual Function Questionnaire composite score was 73, with the lowest median score in the subscale near vision (58) and the highest in ocular pain (100). The majority of patients (88%) reported that light caused them discomfort, and 92% used aid(s) to reduce light. Ninety-six percent (26 of 27) preferred the gray filter to the red indoors; 74% (20 of 27) preferred the gray filter. Contrast sensitivity was significantly better with the gray filter compared with no filter (p=0.003) and the red filter (p=0.002). CONCLUSIONS: Our cohort has a relatively high vision-related quality of life compared with other inherited retinal diseases, but photoaversion has a large impact on visual function. Despite what could be expected from a theoretical point of view, red filters are not generally preferred.
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Defeitos da Visão Cromática , Qualidade de Vida , Acuidade Visual , Humanos , Masculino , Feminino , Defeitos da Visão Cromática/reabilitação , Defeitos da Visão Cromática/fisiopatologia , Acuidade Visual/fisiologia , Adulto , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto Jovem , Adolescente , Sensibilidades de Contraste/fisiologia , Idoso , Atividades Cotidianas , Óculos , CriançaRESUMO
BACKGROUND: To investigate the efficacy and safety of 0.1% and 0.01% low-dose atropine eye drops in reducing myopia progression in Danish children. METHODS: Investigator-initiated, placebo-controlled, double-masked, randomized clinical trial. Ninety-seven six- to twelve-year old myopic participants were randomized to 0.1% loading dose for six months followed by 0.01% for six months (loading dose group, Number (N) = 33), 0.01% for twelve months (0.01% group, N = 32) or vehicle for twelve months (placebo, N = 32). Primary outcomes were axial length and spherical equivalent refraction. Secondary outcomes included adverse events and reactions, choroidal thickness and ocular biometry. Outcomes were measured at baseline and three-month intervals. Data was analyzed with linear-mixed model analysis according to intention-to-treat. RESULTS: Mean axial elongation was 0.10 mm less (95% confidence interval (CI): 0.17; 0.02, adjusted-p = 0.06) in the 0.1% loading dose and 0.07 mm less (95% CI: 0.15; 0.00, adjusted-p = 0.16) in the 0.01% group at twelve months compared to placebo. Mean spherical equivalent refraction progression was 0.24 D (95% CI: 0.05; 0.42) less in the loading dose and 0.19 D (95% CI: 0.00; 0.38) less in the 0.01% groups at twelve months, compared to placebo (adjusted-p = 0.06 and 0.14, respectively). A total of 108 adverse events were reported during the initial six-month loading dose period, primarily in the loading dose group, and 14 were reported in the six months following dose switching, all deemed mild except two serious adverse events, unrelated to the intervention. CONCLUSIONS: Low-dose atropine eye drops are safe over twelve months in otherwise healthy children. There may be a modest but clinically relevant reduction in myopia progression in Danish children after twelve months treatment, but the effect was statistically non-significant after multiple comparisons adjustment. After dose-switching at six months the loading dose group approached the 0.01% group, potentially indicating an early "rebound-effect". TRIAL REGISTRATION: this study was registered in the European Clinical Trials Database (EudraCT, number: 2018-001286-16) 05/11/2018 and first posted at www. CLINICALTRIALS: gov (NCT03911271) 11/04/2019, prior to initiation.
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Atropina , Miopia , Criança , Humanos , Atropina/uso terapêutico , Soluções Oftálmicas , Miopia/tratamento farmacológico , Refração Ocular , Dinamarca , Progressão da Doença , Comprimento Axial do OlhoRESUMO
BACKGROUND: Studies of patients with retinitis pigmentosa (RP) have reported an increased prevalence of optic disc drusen (ODD) compared with the ODD prevalence in the general population. The diagnostic gold standard method for identifying ODD is enhanced depth imaging optical coherence tomography (EDI-OCT), but this modality has not previously been used systematically for identifying ODD in patients with RP. This study aimed to estimate the prevalence of ODD in patients with RP using EDI-OCT. METHODS: In this cross-sectional study, 40 patients with clinically diagnosed RP aged 18 years or older were included. All patients underwent an ophthalmic examination, including kinetic perimetry, EDI-OCT of the optic nerve head, and fundus photography. Genetic testing with a next-generation sequencing panel of retinal dystrophy genes was performed on the RP patients without a prior genetic diagnosis. RESULTS: Twelve patients (30.0%) had at least one ODD. Six patients had bilateral ODD. No significant differences between patients with and without ODD were found according to age, refraction, best-corrected visual acuity, Bruch membrane opening, or visual field. The genetic variation causing RP was found in 11 of 12 cases in the ODD group and in 17 of 28 cases in the group without ODD. CONCLUSIONS: We found the prevalence of ODD in patients with RP to be 30.0%. This is 15 times higher than in the general population and much higher than previously estimated in most studies, potentially indicating that the 2 conditions might be pathogenically related.
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PURPOSE: To report on the prevalence of intraocular inflammation after subretinal voretigene neparvovec (VN) administration. DESIGN: Retrospective review of medical files. PARTICIPANTS: All patients receiving VN in Denmark. METHODS: Twelve patients received VN gene therapy as standard of care for biallelic RPE65-related retinal disease. Bilateral treatment was performed in 11 patients and unilateral treatment in 1 patient. Patients were followed clinically before and after VN administration using functional measurements (visual acuity, full-field scotopic threshold test, visual fields) and structural evaluations (fundus imaging [color and autofluorescence], OCT, slit-lamp). MAIN OUTCOME MEASURES: Signs of intraocular inflammation, including vitritis and outer retinal infiltrates. RESULTS: Vitritis was observed in 9 of 23 eyes receiving VN. The median time to resolution of vitritis from the time of treatment was 89 days. Four eyes also presented with outer retinal infiltrates at the time of vitritis. Inflammation subsided on immunosuppressant therapy. The presence of inflammation did not adversely affect visual outcome after VN therapy. In 1 eye, outer retinal infiltrates were demonstrated to precede later development of atrophy. CONCLUSIONS: Patients undergoing subretinal gene therapy need to be closely monitored for signs of inflammation. Although we did not observe a detrimental effect on visual function in eyes with inflammation, it seems wise to treat it appropriately because it may lead to atrophy of the retinal pigment epithelium and outer retina. Also, it seems advisable to reduce the inflammatory load, such as using a surgical technique that minimizes residual viral vectors in the vitreous body.
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Distrofias Retinianas , cis-trans-Isomerases , Humanos , cis-trans-Isomerases/genética , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Distrofias Retinianas/terapia , Transtornos da Visão , Inflamação , Atrofia , Imunossupressores/uso terapêuticoRESUMO
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). METHODS: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. MAIN OUTCOME MEASURES: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. CONCLUSIONS: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.
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Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Defeitos da Visão Cromática , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Proteínas do Citoesqueleto , Fóvea Central/anormalidades , Humanos , Proteínas de Membrana , Transtornos da Visão/diagnósticoRESUMO
PURPOSE: To investigate the epidemiology and clinical characteristics of infants presenting with conjunctival, palpebral, or orbital congenital choristomas (dermolipomas, epidermoids, and dermoid cysts) and children undergoing surgery for congenital choristomas in the ocular adnexa. METHODS: We reviewed the medical files of congenital choristomas in children seen in The Capital Region of Denmark during a 5-year period (2014-2018). Children (< 18 years) were divided into two groups: those referred < 1 year of age (Group I) and those undergoing surgery to remove the lesion (Group II). Group I was used to calculate a population-based incidence of congenital choristomas by comparing our data to birth statistics from the Danish Medical Birth Registry. RESULTS: A total of 97 children were included, 43 in Group I and 70 in Group II (including 16 patients from Group I). The total incidence of congenital choristomas was 1 in 2537 live born children. Most lesions were palpebral choristomas (27/43, 63%) located in the superotemporal region (17/27, 63%), followed by the superonasal region (7/27, 26%). The main reasons for surgical removal of a congenital choristoma were growth (28/70, 40%) or cosmesis (25/70, 36%). CONCLUSION: The total incidence of congenital choristomas in the ocular adnexa of infants < 1 year of age, including both conjunctival and palpebral congenital choristomas, is about 1 in 2537 live born children in The Capital Region of Denmark. Hence, congenital choristomas are common masses found in the ocular adnexa.
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Coristoma , Criança , Túnica Conjuntiva , Humanos , Incidência , LactenteRESUMO
BACKGROUND: We evaluated health care costs in patients with childhood onset visual impairment caused by inherited retinal dystrophies (IRD). METHODS: The IRD cohort, identified from the Danish Registry of Blind and Partially Sighted Children, was compared to age- and sex-matched controls from the national, Danish population registry. Information on health care expenditures for somatic and psychiatric in- and outpatient services, purchase of prescription medications and paid assistance at home were obtained from national registries for the years 2002-2017. RESULTS: We included 412 in the IRD cohort (6,290 person years) and 1656 (25,088 person years) in the control cohort. Average, annual health care expenditures from age 0-48 years of age were 1,488 (SD 4,711) in the IRD cohort and 1,030 (4,639) in the control cohort. The largest difference was for out-patient eye care (13.26 times greater, 95% confidence interval 12.90-13.64). Psychiatric in-patient expenditures were 1.71 times greater (95% CI 1.66-1.76) in the IRD cohort but psychiatric out-patient health care costs were comparable between groups. CONCLUSIONS: Health care costs were approximately 40% greater in the IRD cohort compared to an age- and sex-matched sample from the general Danish population. This is relevant in the current situation with a number of trials aimed at treating IRDs using genetically based therapies. Although eye care expenditures were many times greater, they made up < 10% of the total health care expenditures even in the IRD cohort. The reduced costs related to injuries in the visually impaired cohort was a surprising finding but may reflect a reduced propensity to seek medical care rather than a reduced risk of injuries.
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Distrofias Retinianas , Pessoas com Deficiência Visual , Criança , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Custos de Cuidados de Saúde , Distrofias Retinianas/genética , Gastos em Saúde , Assistência AmbulatorialRESUMO
BACKGROUND: To report long-term biometric and refractive outcomes in a group of Danish children after surgery for childhood cataract. METHODS: Children between 7 and 18 years who had undergone uni- or bilateral cataract surgery at the Department of Ophthalmology, Rigshospitalet, Denmark, were examined in this cross-sectional study. Swept source optical coherence tomography (OCT) based optical biometry (IOLmaster 700) and anterior tomography (Pentacam) was performed. Healthy fellow eyes from those with unilateral cataract were used as controls. RESULTS: We included 56 children in the study with a median age at surgery of 43.8 months (1.6-137.6). The amount of higher order aberrations was significantly increased in operated eyes (median root mean square 0.461 µm [range 0.264-1.484]) compared with non-operated eyes (median root mean square 0.337 µm [range 0.162-0.498], p < 0.001). Younger age at surgery was positively associated with more higher order aberrations at follow-up (p < 0.001), but we found no significant associations between the amount of higher order aberrations and visual acuity or contrast vision. Longer axial length was associated to glaucoma while shorter axial length was associated to strabismus (p < 0.001). CONCLUSIONS: Eyes operated for childhood cataract have higher order aberrations compared with non-operated eyes. Higher order aberrations are complex refractive errors that cannot be corrected by normal lenses and may contribute to poor visual outcomes for the children. We found an association between young age at surgery and higher order aberrations.
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Extração de Catarata , Catarata , Biometria/métodos , Catarata/complicações , Criança , Córnea , Estudos Transversais , HumanosRESUMO
BACKGROUND: Establishing eye contact between infants and parents is important for early parent-child bonding and lack of eye contact may be a sign of severe underlying disease. The aim of the study was to evaluate the causes of poor or lacking eye contact in infants. METHODS: Cross-sectional study reviewing all referrals of infants ≤1 year of age from January 1rst, 2016 to December 31rst, 2018. Medical information was retrieved from patient files covering pregnancy, birth, diagnostic work-up and ocular parameters such as refraction, visual acuity and structural findings. RESULTS: We identified 99 infants with poor or lacking eye contact. The relative frequency of causes was neurologic disease 36.4% (36/99), delayed visual maturation 24.2% (24/99), ocular disease 21.2% (21/99) and idiopathic infantile nystagmus 4.0% (4/99). Fourteen infants had a visual function within age-related norms at first examination despite poor eye contact at the time of referral. Of the infants with available data, 18/27 (33.3%) with neurologic cause, 15/23 (65.2%) with delayed visual maturation and 9/21 (42.9%) with ocular cause had visual acuity within the age-related norm at latest follow-up (0-41 months). In 23 infants, a genetic cause was found. CONCLUSION: Poor eye contact in infants may be a sign of severe underlying disease, such as neurological or ocular disease. Close collaboration between pediatric ophthalmologists and neuro-pediatricians are warranted in the management of these infants.
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Doenças Genéticas Ligadas ao Cromossomo X , Nistagmo Congênito , Criança , Pré-Escolar , Estudos Transversais , Seguimentos , Humanos , Lactente , Recém-Nascido , Acuidade VisualRESUMO
BACKGROUND: Myopic eyes are longer than nonmyopic eyes and have thinner choroids. The purpose of present study was to investigate whether a thinner subfoveal choroid at 11 years of age predicted axial eye elongation and myopia during adolescence. METHODS: Longitudinal, population-based observational study. Axial length was measured using an interferometric device and choroidal thickness was measured by spectral-domain optical coherence tomography. Myopia was defined as non-cycloplegic subjective spherical equivalent refraction ≤ - 0.50 diopters. RESULTS: Right eyes of 714 children (317 boys) were examined at age (median (IQR)) 11.5 (0.6) years and 16.6 (0.3) years during which axial length (median (IQR)) increased by 243 (202) µm in eyes without myopia (n = 630) at baseline compared with 454 (549) µm in eyes with myopia (n = 84) at baseline, p < 0.0001. A thicker baseline subfoveal choroid was associated with increased five-year axial elongation after adjustment for baseline axial length in nonmyopic eyes (ß = 27 µm/100 µm, 95%CI 6 to 48, p = 0.011) but not in myopic eyes (p = 0.34). Subfoveal choroidal thickness at 11 years of age did not predict incident myopia at 16 years of age (p = 0.11). Longer baseline axial length was associated with greater five-year axial elongation in both myopic (ß = 196 µm/mm, 95%CI 127 to 265, p < 0.0001) and nonmyopic eyes (ß = 28 µm/mm, 95%CI 7 to 49, p = 0.0085) and the odds for incident myopia increased with 1.57 (95%CI 1.18 to 2.09, p = 0.0020) per mm longer axial length at baseline. CONCLUSION: A thin subfoveal choroid at age 11 years did not predict axial eye elongation and incident myopia from age 11 to 16 years. A longer eye at age 11 years was associated with greater subsequent axial eye elongation and with increased risk of incident myopia at age 16 years.
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Comprimento Axial do Olho/patologia , Corioide/patologia , Miopia/epidemiologia , Adolescente , Criança , Corioide/diagnóstico por imagem , Dinamarca/epidemiologia , Feminino , Humanos , Interferometria , Estudos Longitudinais , Masculino , Miopia/diagnóstico , Tamanho do Órgão , Tomografia de Coerência Óptica , Testes Visuais , Acuidade Visual/fisiologiaRESUMO
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing variants, of which 12 are novel, were identified. The mutation spectrum also includes a novel copy number variation, a heterozygous duplication of exon 4, of which the breakpoint matches exactly that of the previously reported exon 4 deletion. Two patients carry just a single heterozygous variant. In addition to our previous study on GNAT2-ACHM, we also present detailed clinical data of these patients.
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Defeitos da Visão Cromática/genética , Proteínas Heterotriméricas de Ligação ao GTP/genética , Mutação , Análise de Sequência de DNA/métodos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Éxons , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto JovemRESUMO
Cavitations in the inner nuclear layer associated with severe optic atrophy and loss of retinal ganglion cells have clinically been termed microcystic macular oedema (MME). We describe a case series of MME in patients of all ages but predominantly younger patients with a wide range of optic atrophies ranging from acute onset optic disc drusen associated ischemic optic neuropathy to slowly progressive disease as glaucoma. There were no physical distinctions between MME in different causes of optic atrophy suggesting a common causative mechanism. We reviewed the literature on MME and it appears that MME is associated with more severe visual loss, and is more common in hereditary optic neuropathies and neuromyelitis optica spectrum disease rather than in patients with optic atrophy secondary to multiple sclerosis and glaucoma. Three main causative mechanisms have been proposed, including increased vitreal traction on the macular as the ganglion cells are lost. Others have suggested that trans-synaptic loss of cells in the inner nuclear layer causes formation of empty spaces or cavities. Finally, some have hypothesized a disturbance in the fluid homeostasis of the inner retina as Müller cells are lost or their function is impaired. There are no known treatments of MME. In conclusion, MME seems to be a marker of severe optic nerve atrophy irrespective of the underlying cause.
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Edema Macular/etiologia , Disco Óptico/patologia , Doenças do Nervo Óptico/complicações , Células Ganglionares da Retina/patologia , Acuidade Visual , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Edema Macular/diagnóstico , Masculino , Pessoa de Meia-Idade , Doenças do Nervo Óptico/diagnóstico , Tomografia de Coerência Óptica , Adulto JovemRESUMO
Development of non-invasive treatments for cataract calls for a sensitive diagnostic assay. We conducted a study to test whether the ratio of folded tryptophan to non-tryptophan fluorescence emission (F-factor) may be used for grading cataracts in human lenses. The F-factor was measured on aspirated lens material from eyes undergoing femtosecond laser assisted cataract surgery (FLACS) and was compared to a preoperative optical grading of cataract using Scheimpflug imaging. The preoperative optical grading allocated the cataracts to 1 of 4 categories according to the density of the cataract. All cataracts were age-related. Lens material from 16 eyes of 14 patients was included in the study. Cataracts were preoperatively graded in categories 1, 2 and 3. No lenses were category 4. For nuclear cataracts mean values of F-factor were 52.9 (SD 12.2), 61.7 (SD 5.3) and 75.7 (SD 8.9) for categories 1, 2 and 3 respectively. Linear regression on F-factor as a function of preoperative grading category showed increasing values of F-factor with increasing preoperative grading category, R2 = 0.515. Our experiment showed that preoperative optical grading of cataracts by Scheimpflug imaging may correlate to measures of tryptophan and non-tryptophan fluorescence in human lenses. Based on our results we find that measuring the ratio between tryptophan- and non-tryptophan fluorescence may be a future tool for grading cataracts, but further research is needed.
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Catarata/diagnóstico , Técnicas de Diagnóstico Oftalmológico , Triptofano/administração & dosagem , Idoso , Idoso de 80 Anos ou mais , Feminino , Fluorescência , Humanos , Masculino , Pessoa de Meia-Idade , Facoemulsificação , Fotografação/métodosRESUMO
TOPIC: We performed a systematic review and meta-analysis to evaluate the benefit and harms associated with implantation of toric intraocular lenses (IOLs) during cataract surgery. Outcomes were postoperative uncorrected distance visual acuity (UCDVA) and distance spectacle independence. Harms were evaluated as surgical complications and residual astigmatism. CLINICAL RELEVANCE: Postoperative astigmatism is an important cause of suboptimal UCDVA and need for distance spectacles. Toric IOLs may correct for preexisting corneal astigmatism at the time of surgery. METHODS: We performed a systematic literature search in the Embase, PubMed, and CENTRAL databases within the Cochrane Library. We included randomized clinical trials (RCTs) if they compared toric with non-toric IOL implantation (± relaxing incision) in patients with regular corneal astigmatism and age-related cataracts. We assessed the risk of bias using the Cochrane Risk of Bias tool. We assessed the quality of evidence across studies using the GRADE profiler software (available at: www.gradeworkinggroup.org). RESULTS: We included 13 RCTs with 707 eyes randomized to toric IOLs and 706 eyes randomized to non-toric IOLs; 225 eyes had a relaxing incision. We found high-quality evidence that UCDVA was better in the toric IOL group (logarithm of the minimum angle of resolution [logMAR] mean difference, -0.07; 95% confidence interval [CI], -0.10 to -0.04) and provided greater spectacle independence (risk ratio [RR], 0.51; 95% CI, 0.36-0.71) and moderate quality evidence that toric IOL implantation was not associated with an increased risk of complications (RR, 1.73; 95% CI, 0.60-5.04). Residual astigmatism was lower in the toric IOL group than in the non-toric IOL plus relaxing incision group (mean difference, 0.37 diopter [D]; 95% CI, -0.55 to -0.19). CONCLUSIONS: We found that toric IOLs provided better UCDVA, greater spectacle independence, and lower amounts of residual astigmatism than non-toric IOLs even when relaxing incisions were used.
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Astigmatismo/cirurgia , Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação , Astigmatismo/fisiopatologia , Humanos , Razão de Chances , Desenho de Prótese , Ensaios Clínicos Controlados Aleatórios como Assunto , Refração Ocular/fisiologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: Cataract decreases blue light transmission. Because of the selective blue light sensitivity of the retinal ganglion cells governing circadian photoentrainment, cataract may interfere with normal sleep-wake regulation and cause sleep disturbances. The purpose was to investigate the effect of cataract surgery on circadian photoentrainment and to determine any difference between blue-blocking and neutral intraocular lenses (IOLs). DESIGN: The study was a single-center, investigator-driven, double-masked, block-randomized clinical trial. PARTICIPANTS: One eye in 76 patients with bilateral age-related cataract eligible for cataract surgery was included. METHODS: Intervention was cataract surgery by phacoemulsification. Patients were randomized to receive a blue-blocking or neutral IOL. MAIN OUTCOME MEASURES: Primary outcome was activation of intrinsic photosensitive ganglion cells using post-illumination pupil response (PIPR) to blue light from 10 to 30 seconds after light exposure as a surrogate measure. Secondary outcomes were circadian rhythm analysis using actigraphy and 24-hour salivary melatonin measurements. Finally, objective and subjective sleep quality were determined by actigraphy and the Pittsburgh Sleep Quality Index. RESULTS: The blue light PIPR increased 2 days (17%) and 3 weeks (24%) after surgery (P < 0.001). The majority of circadian and sleep-specific actigraphy parameters did not change after surgery. A forward shift of the circadian rhythm by 22 minutes (P = 0.004) for actigraphy and a tendency toward an earlier melatonin onset (P = 0.095) were found. Peak salivary melatonin concentration increased after surgery (P = 0.037). No difference was detected between blue-blocking and neutral IOLs, whereas low preoperative blue light transmission was inversely associated with an increase in PIPR (P = 0.021) and sleep efficiency (P = 0.048). CONCLUSIONS: Cataract surgery increases photoreception by the photosensitive retinal ganglion cells. Because of inconsistency between the significant findings and the many parameters that were unchanged, we can conclude that cataract surgery does not adversely affect the circadian rhythm or sleep. Longer follow-up time and fellow eye surgery may reveal the significance of the subtle changes observed. We found no difference between blue-blocking and neutral IOLs, and, because of the minor effect of surgery in itself, an effect of IOL type seems highly unlikely.
Assuntos
Ritmo Circadiano/efeitos da radiação , Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação , Fotoperíodo , Idoso , Idoso de 80 Anos ou mais , Ritmo Circadiano/fisiologia , Método Duplo-Cego , Feminino , Humanos , Luz , Masculino , Melatonina/metabolismo , Pessoa de Meia-Idade , Desenho de Prótese , Pupila/efeitos da radiação , Células Ganglionares da Retina/efeitos da radiação , Saliva/metabolismo , Sono/fisiologiaRESUMO
PURPOSE: Favorable outcome after cataract surgery depends on proper control of the inflammatory response induced by cataract surgery. Pseudophakic cystoid macular edema is an important cause of visual decline after uncomplicated cataract surgery. DESIGN: We compared the efficacy of topical steroids with topical nonsteroidal anti-inflammatory drugs (NSAIDs) in controlling inflammation and preventing pseudophakic cystoid macular edema (PCME) after uncomplicated cataract surgery. PARTICIPANTS: Patients undergoing uncomplicated surgery for age-related cataract. METHODS: We performed a systematic literature search in Medline, CINAHL, Cochrane, and EMBASE databases to identify randomized trials published from 1996 onward comparing topical steroids with topical NSAIDs in controlling inflammation and preventing PCME in patients undergoing phacoemulsification with posterior chamber intraocular lens implantation for age-related cataract. MAIN OUTCOME MEASURES: Postoperative inflammation and pseudophakic cystoid macular edema. RESULTS: Fifteen randomized trials were identified. Postoperative inflammation was less in patients randomized to NSAIDs. The prevalence of PCME was significantly higher in the steroid group than in the NSAID group: 3.8% versus 25.3% of patients, risk ratio 5.35 (95% confidence interval, 2.94-9.76). There was no statistically significant difference in the number of adverse events in the 2 treatment groups. CONCLUSIONS: We found low to moderate quality of evidence that topical NSAIDs are more effective in controlling postoperative inflammation after cataract surgery. We found high-quality evidence that topical NSAIDs are more effective than topical steroids in preventing PCME. The use of topical NSAIDs was not associated with an increased events. We recommend using topical NSAIDs to prevent inflammation and PCME after routine cataract surgery.
Assuntos
Anti-Inflamatórios/uso terapêutico , Extração de Catarata/efeitos adversos , Edema Macular/prevenção & controle , Complicações Pós-Operatórias/prevenção & controle , Anti-Inflamatórios não Esteroides/uso terapêutico , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
PURPOSE: To investigate visual development and long-term complications after cataract surgery in childhood. METHODS: This cross-sectional study included patients from a family with Marner's hereditary cataracts who had cataract surgery before 18 years of age. The study was conducted from 1 January 2022 until 31 December 2022. The patients contributed to their medical files and participated in an updated ophthalmologic examination. RESULTS: We included 52 patients (101 eyes, 34 females). The median age at cataract surgery was 7 years (IQR: 5-10) and the age at examination was 40 years (IQR: 21-54). Primary and secondary intraocular lens implantation had been performed in 47.5% (25 patients, 48 eyes) and 16.8% (10 patients, 17 eyes). Visual acuity was ≤0.3 logMAR in 77% (78 eyes), and <0.5 logMAR in 8% (8 eyes). Glaucoma was present in 17% (9 patients, 12 eyes), ocular hypertension in 6% (3 patients, 4 eyes), and 10% (5 patients, 5 eyes) had prior retinal detachment. Mild visual field loss (2 < mean defect (MD) ≤ 6 dB) was found in 62% (63 eyes) and moderate to advanced visual field loss (MD > 6 dB) in 24% (24 eyes). Thirty-five patients (67%) held a driver's licence, and three were not allowed to drive due to low visual function. All patients were employed. CONCLUSION: After cataract surgery in childhood, many patients achieve normal visual acuity, but mild visual field loss is common. Long-term follow-up is important due to the high risk of glaucoma.
RESUMO
Long viewed by social scientists as a future imaginary, precision medicine is now materializing in many healthcare systems in the form of new diagnostic practices and novel treatment modalities, such as gene therapies. Based on an ethnographic study of the introduction of the first two clinically available in-vivo gene therapies in the Danish healthcare system, we investigate what it takes to make these therapies workable in practice. Drawing on social science literature on infrastructuring, we describe the many forms of mundane work required to fit these therapies into regulatory frameworks, political processes and daily work practices in the healthcare system. Further, we observe how the processes of infrastructuring required to introduce the gene therapies into clinical practice had transformative implications as they redistributed roles and responsibilities among clinicians, pharmacists, procurement agencies and pharmaceutical manufacturers.
Assuntos
Terapia Genética , Medicina de Precisão , Doenças Raras , Medicina de Precisão/métodos , Humanos , Terapia Genética/métodos , Terapia Genética/tendências , Doenças Raras/terapia , Dinamarca , Antropologia Cultural , Atenção à Saúde/organização & administraçãoRESUMO
PURPOSE: To examine the long-term risk of glaucoma after cataract surgery in childhood. METHODS: This study took place from January 2022 until December 2022 and included patients from a large family with hereditary childhood cataract who had cataract surgery before 18 years of age. Patients underwent an ophthalmologic examination to determine the presence of glaucoma or ocular hypertension (OHT). Patients who did not want to participate in the examination could contribute with a medical journal from their treating ophthalmologist. The risk of long-term glaucoma was determined using survival analysis, and risk factors were assessed using a Cox proportional hazards regression model. RESULTS: We included 68 patients (133 eyes) with a median age at cataract surgery of 7 years (IQR: 5-10). The median follow-up time after cataract surgery to glaucoma/OHT or the latest ophthalmologic examination was 35 years (IQR: 15-48). Twelve patients (18 eyes) had glaucoma, and five patients (eight eyes) had OHT, resulting in 15 patients with glaucoma/OHT. The long-term risk of glaucoma/OHT diagnosed in adulthood was 47.7% (CI: 21.8-70.9) at the age of 70 years of patients who were free of glaucoma before their 18th year. We could not confirm or dismiss an association between glaucoma/OHT and sex, age at surgery, number of ocular interventions before 18 years of age or glaucoma after cataract surgery in a first-degree relative. CONCLUSION: Cataract surgery in childhood is associated with a high risk of late-onset glaucoma. Regular lifelong follow-up is important to ensure early diagnosis and prevent extensive vision loss.