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1.
Diabet Med ; 39(1): e14732, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34687245

RESUMEN

OBJECTIVE: To evaluate the impact of long-term glycaemic control and glycaemic variability on microvascular complications in adolescents and young adults with childhood-onset Type 1 diabetes. METHODS: Twenty-six participants took part in a prospective follow-up study. We used univariate generalised estimating equations (GEE) analysis with first-order autoregressive AR(1) covariance structure for repeated measurements to evaluate the relationship between emerging diabetic retinopathy (DR) and each single explanatory variable, namely age at developmental stages from late prepuberty until early adulthood, duration of diabetes and long-term HbA1c . Thereafter, the simultaneous effect of these three explanatory variables to DR was analysed in a multivariate model. RESULTS: Twenty-five participants developed DR by early adulthood after a median diabetes duration of 16.2 years (range 6.3-24.0). No participants had DR during prepuberty. Each of the three variables was independently associated with emerging DR: age (OR 1.47, 95% CI to 1.25 to 1.74, p < 0.001) stronger than diabetes duration (OR 1.42, 95% CI 1.23 to 1.63, p < 0.001) and HbA1c (OR 1.02, 95% CI 1.001 to 1.05, p = 0.041) in this population. In the multivariate analysis of these three explanatory variables, only age was associated with DR (adjusted OR 1.52, 95% CI 1.10 to 2.10, p = 0.012). CONCLUSIONS: The emergence of DR during adolescence and early adulthood is not rare and increases with age in patients with deteriorating metabolic control during puberty and thereafter. This underpins the need to prevent deterioration of glycaemic control from taking place during puberty-seen again in this follow-up study-in children with diabetes.


Asunto(s)
Albuminuria/etiología , Diabetes Mellitus Tipo 1/complicaciones , Retinopatía Diabética/etiología , Predicción , Pubertad , Adolescente , Albuminuria/epidemiología , Glucemia/metabolismo , Niño , Estudios Transversales , Diabetes Mellitus Tipo 1/sangre , Retinopatía Diabética/epidemiología , Progresión de la Enfermedad , Femenino , Finlandia/epidemiología , Estudios de Seguimiento , Hemoglobina Glucada/metabolismo , Humanos , Incidencia , Masculino , Estudios Prospectivos , Factores de Riesgo , Adulto Joven
2.
Scand J Public Health ; 44(8): 765-771, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27655783

RESUMEN

AIMS: This study evaluated the influence of diabetes on the health-related quality of life (HRQoL) scores of adult patients with diabetes in northern Finland. METHODS: A total of 3771 patients of the population of 10,264 patients aged ⩾15 years with the right for reimbursement of the cost of diabetes medication attended fundus photography screening for retinopathy in 2012. The 15D HRQoL scores and data on age, sex, type and duration of diabetes were gathered concurrently. The results were compared with the 15D scores reported in Finnish population studies. RESULTS: The 15D score was obtained from 2461 patients aged 60±14 years; 20% had type 1 diabetes (T1D). The mean±SD 15D index was 0.930±0.079 in patients with T1D and their mean±SD age was 46±15 years. The mean±SD 15D index of the patients with type 2 diabetes (T2D) was 0.890±0.100 and their mean±SD age was 63±11 years. The 15D index was no lower than in the Finnish general population in either patient group or in any age group. However, the 15D score was negatively influenced by an increasing duration of diabetes in both patients with T1D and patients with T2D. No sex difference was found. CONCLUSIONS: The mean HRQoL score of patients with diabetes in this study is comparable with that of the general population of equal age. Neither the type of diabetes nor sex independently affected the HRQoL score, but a longer duration of diabetes seemed to impair the HRQoL score. Current diabetes care appears to maintain a normal HRQoL score in this diabetic population in Finland.


Asunto(s)
Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 2/terapia , Calidad de Vida , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Retinopatía Diabética/diagnóstico , Femenino , Finlandia , Humanos , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
3.
Scand J Public Health ; 43(6): 623-8, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26088130

RESUMEN

AIM: To evaluate the social performance of young adults with type 1 diabetes (T1D) since childhood with particular interest in its relation to the severity of diabetic retinopathy (DR). METHODS: The prevalence of DR was evaluated in a population-based Finnish cohort of children with T1D during 1989-1990. The subjects were contacted 18 years later for evaluation of DR, education, employment, and family relations. RESULTS: 136 of 216 subjects participated in the study in 2007 (mean age 30 ± 3 years, mean diabetes duration 23 ± 4 years, 78 men). There were 42 subjects (31%) with proliferative diabetic retinopathy (PDR). A university degree was held by 9%, a degree from a university of applied sciences by 33%, and 45% had a vocational school education; 7% were full-time students while 4% had received no education after comprehensive school. PDR was associated with lower education. Sixty percent of the subjects with PDR and 68% of those with non-PDR held full-time jobs. Four percent of the non-PDR group were unemployed while 26% of subjects with PDR were outside working life because of either unemployment or retirement. Seventy-one percent of the subjects had a spouse, and 60 subjects had a total of 119 children. PDR did not compromise the likelihood of having a spouse and children. CONCLUSIONS: The majority of young adults with T1D take active roles in society by working and raising families. However, patients with PDR lacked secondary education significantly more often and were less likely to work than those with non-PDR.


Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Retinopatía Diabética/epidemiología , Adulto , Estudios de Cohortes , Escolaridad , Empleo/estadística & datos numéricos , Composición Familiar , Femenino , Finlandia/epidemiología , Humanos , Masculino , Índice de Severidad de la Enfermedad , Adulto Joven
4.
Acta Ophthalmol ; 2024 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-38706142

RESUMEN

PURPOSE: To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population. METHODS: Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed. RESULTS: Thirty-two individuals with FZD4 c.313A>G variant and three individuals with FZD4 c.40_49del were included in the study. The clinical phenotype was variable even among family members with the same FZD4 variant. Only 34% (N = 12/35) of variant-positive individuals had been clinically diagnosed with FEVR. The median age of the onset of symptoms was 2.3 years, ranging between 0 to 25 years. Median visual acuity was 0.1 logMAR (0.8 Snellen decimal), ranging between light perception and -0.1 logMAR (1.25 Snellen decimal). Most (N = 33/35, 94%) were classified as not visually impaired. Despite unilateral visual loss present in some, they did not meet the criteria of visual impairment according to the WHO classification. Two study patients (N = 2/35, 6%) had severe visual impairment. The most common FEVR stage in study patient's eyes (N = 28/70 eyes, 40%) was FEVR stage 1, that is, avascular periphery or abnormal vascularisation. Most of FZD4-variant-positive study patient's eyes (N = 31/50 eyes, 62%) were myopic. Two individuals presented with persistent hyperplastic primary vitreous expanding the phenotypic spectrum of FEVR. Shared haplotypes extending approximately 0.9 Mb around the recurrent FZD4 c.313A>G variant were identified. CONCLUSION: Most study patients were unaffected or had mild clinical manifestations by FEVR. Myopia seemed to be overly common in FZD4-variant-positive individuals.

5.
J Cardiovasc Pharmacol ; 62(4): 394-6, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23921312

RESUMEN

Amiodarone is a commonly prescribed and one of the most effective anti-arrhythmic drugs available. However, its use is limited by serious toxic adverse effects including optic neuropathy. Previously, amiodarone-associated optic neuropathy has been reported at an incidence of 1.3%-1.8%. Nearly, one-third of patients with amiodarone-induced toxic optic neuropathy are asymptomatic and typically visual acuity improves after drug cessation. We describe the case of a 75-year-old woman who experienced severe optic neuropathy with bilateral optic disc edema and hemorrhages, irreversible loss of vision, and severe defects in visual fields after 1.5 months use of amiodarone. The optic disc edema resolved promptly after discontinuation of the drug, but the patient remained blind permanently. This is the first report of only 6.5 weeks of amiodarone treatment resulting in bilateral optic neuropathy with bilateral and irreversible loss of vision. To ideally establish a connection between amiodarone and optic neuropathy, re-exposure of the patient to the drug should reproduce the symptoms. As a limitation of the study, this was not done in the present case because it would have been unethical. The worldwide growth of the elderly population in number is expected to increase age-related conditions including cardiac diseases. The use of cardiovascular drugs, also anti-arrhythmic agents such as amiodarone, may increase. Thus, clinicians need to be aware of the possibility of drug-induced toxic optic neuropathy, especially if a patient receiving a regimen of amiodarone complains of visual problems.


Asunto(s)
Amiodarona/efectos adversos , Antiarrítmicos/efectos adversos , Ceguera/inducido químicamente , Enfermedades del Nervio Óptico/inducido químicamente , Anciano , Amiodarona/uso terapéutico , Antiarrítmicos/uso terapéutico , Femenino , Humanos , Enfermedades del Nervio Óptico/patología , Papiledema/inducido químicamente , Papiledema/patología , Índice de Severidad de la Enfermedad , Factores de Tiempo , Campos Visuales/efectos de los fármacos
6.
Front Med (Lausanne) ; 10: 1112652, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37007779

RESUMEN

Background: This study aims to use fundus image material from a long-term retinopathy follow-up study to identify problems created by changing imaging modalities or imaging settings (e.g., image centering, resolution, viewing angle, illumination wavelength). Investigating the relationship of image conversion factor and imaging centering on retinal vessel geometric characteristics (RVGC), offers solutions for longitudinal retinal vessel analysis for data obtained in clinical routine. Methods: Retinal vessel geometric characteristics were analyzed in scanned fundus photographs with Singapore-I-Vessel-Assessment using a constant image conversion factor (ICF) and an individual ICF, applying them to macula centered (MC) and optic disk centered (ODC) images. The ICF is used to convert pixel measurements into µm for vessel diameter measurements and to establish the size of the measuring zone. Calculating a constant ICF, the width of all analyzed optic disks is included, and it is used for all images of a cohort. An individual ICF, in turn, uses the optic disk diameter of the eye analyzed. To investigate agreement, Bland-Altman mean difference was calculated between ODC images analyzed with individual and constant ICF and between MC and ODC images. Results: With constant ICF (n = 104 eyes of 52 patients) the mean central retinal equivalent was 160.9 ± 17.08 µm for arteries (CRAE) and 208.7 ± 14.7.4 µm for veins (CRVE). The individual ICFs resulted in a mean CRAE of 163.3 ± 15.6 µm and a mean CRVE of 219.0 ± 22.3 µm. On Bland-Altman analysis, the individual ICF RVGC are more positive, resulting in a positive mean difference for most investigated parameters. Arteriovenous ratio (p = 0.86), simple tortuosity (p = 0.08), and fractal dimension (p = 0.80) agreed well between MC and ODC images, while the vessel diameters were significantly smaller in MC images (p < 0.002). Conclusion: Scanned images can be analyzed using vessel assessment software. Investigations of individual ICF versus constant ICF point out the asset of utilizing an individual ICF. Image settings (ODC vs. MC) were shown to have good agreement.

7.
J Diabetes Complications ; 37(2): 108408, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36708699

RESUMEN

AIMS: To evaluate clinical outcomes, functional vision and quality of life (QoL) after 35-year duration of type 1 diabetes (T1D) and proliferative diabetic retinopathy (PDR). METHODS: A population-based cohort study of T1D. Data from laboratory tests, ophthalmic examinations, multifunctional vision-test, and 15D-QoL measurements were analysed. RESULTS: 35 % of the original cohort (n = 216) had PDR, and 48 % of them were re-evaluated. They were 41 ± 3 [34-46] years old and 62 % were males. The duration of T1D was 35 ± 4 [29-41] years. 76 % had transdermal glucose monitoring. HbA1c had decreased from 80.1 mmol/mol to 63.6 mmol/mol (p < 0.001). Visual acuity was 73-77 ETDRS-letters. Two patients had visual impairment. Visual field sensitivities were lower in PDR vs. healthy controls (23.2 ± 3.9 dB vs. 26.9 ± 1.0 dB, and 14.9 ± 5.6 dB vs. 21.0 ± 2.0 dB, respectively, p < 0.001). Contrast sensitivity was similar, but the reaction time was longer in the PDR group (490.5 ms vs. 462.8 ms, p = 0.004). QoL-parameters concerning sleeping, usual activities, discomfort and symptoms, and sexual activity had decreased, but improved for mobility and distress. CONCLUSIONS: Long-term visual prognosis and QoL remained good despite the declined functional vision caused by PDR.


Asunto(s)
Diabetes Mellitus Tipo 1 , Retinopatía Diabética , Masculino , Humanos , Adulto , Persona de Mediana Edad , Femenino , Retinopatía Diabética/diagnóstico , Diabetes Mellitus Tipo 1/complicaciones , Calidad de Vida , Estudios de Cohortes , Automonitorización de la Glucosa Sanguínea/efectos adversos , Control Glucémico/efectos adversos , Glucemia
8.
Nurs Open ; 10(4): 2519-2529, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36564916

RESUMEN

AIM: This study aimed to describe visual performance and the need for vision care services among Finnish older people receiving home care. We evaluated the applicability of the Resident Assessment Instrument of Home Care (RAI HC) in identifying visual impairment (VI) and the need for vision care services among older people. DESIGN: A descriptive quantitative, cross-sectional design. METHODS: Visual impairment and the need for vision care services for older people receiving home care (N = 70) were determined by an optometrist's screening examination and vision assessment by home care workers using the RAI HC instrument. In this study, the definition of visual impairment was visual acuity (VA) <0.63 (logMAR >0.2). RESULTS: According to the distance VA measurements, 41% of the participants showed VI (<0.63) of the better eye, while the RAI HC assessment revealed VI among 36% of the participants. The Kappa value for interrater reliability in classifying VI was 0.137. The optometrist's vision screening examination recognized a previously unknown and unmet need for vision care services more than twice as often as the RAI HC assessment.


Asunto(s)
Servicios de Atención de Salud a Domicilio , Baja Visión , Humanos , Anciano , Finlandia , Estudios Transversales , Reproducibilidad de los Resultados
9.
Acta Ophthalmol ; 101(2): 215-221, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36128853

RESUMEN

PURPOSE: To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby-like protein 1 (TULP1) gene. METHODS: A retrospective observational study of 16 IRD patients carrying a homozygous pathogenic TULP1 c.148delG variant. Clinical data including fundus spectral-domain optical coherence tomography (SD-OCT) were assessed. A meta-analysis of visual acuity of previously reported other pathogenic TULP1 variants was performed for reference. RESULTS: The biallelic TULP1 variant c.148delG was associated with infantile and early childhood onset IRD. Retinal ophthalmoscopy was primarily normal converting to peripheral pigmentary retinopathy and maculopathy characterized by progressive extra-foveal loss of the ellipsoid zone (EZ), the outer plexiform layer (OPL), and the outer nuclear layer (ONL) bands in the SD-OCT images. The horizontal width of the foveal EZ showed significant regression with the best-corrected visual acuity (BCVA) of the eye (p < 0.0001, R2  = 0.541, F = 26.0), the age of the patient (p < 0.0001, R2  = 0.433, F = 16.8), and mild correlation with the foveal OPL-ONL thickness (p = 0.014, R2  = 0.245, F = 7.2). Modelling of the BCVA data suggested a mean annual loss of logMAR 0.027. The level of visual loss was similar to that previously reported in patients carrying other truncating TULP1 variants. CONCLUSIONS: This study describes the progression of TULP1 IRD suggesting a potential time window for therapeutic interventions. The width of the foveal EZ and the thickness of the foveal OPL-ONL layers could serve as biomarkers of the disease stage.


Asunto(s)
Distrofias Retinianas , Preescolar , Humanos , Biomarcadores , Proteínas del Ojo/genética , Fondo de Ojo , Estudios Observacionales como Asunto , Retina , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Retinitis Pigmentosa/genética , Tomografía de Coherencia Óptica/métodos
10.
Ophthalmic Genet ; 43(2): 152-158, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35240912

RESUMEN

BACKGROUND: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1261_1262delinsA, in a consanguineous northern Finnish family with two individuals. MATERIALS AND METHODS: Our patients were first discovered in a registry-based study. Later, they gave their written consent for this study. In order to describe the genotype and phenotype, their historic clinical patient data and genetic data were gathered, and a clinical ophthalmic examination and an audiogram were performed. For this review, a PubMed search using the keyword CEP78 was carried out. The first article on CEP78 was published in the year 2007, and the publications from the years 2007-2021 were included. RESULTS: A large gene panel identified a homozygous CEP78 c.1261_1262delinsA variant in two affected siblings. In addition to the classical signs of retinitis pigmentosa, both siblings had large round atrophic spots in the mid periphery, and hyperautofluorescence of the macula. Patient 1 had age-related hearing impairment; patient 2 had normal hearing. In total, 20 articles have been published about CEP78. Eight of these papers report patient data with the affected individuals typically having retinal dystrophy combined with sensorineural hearing impairment, classified as atypical Usher syndrome. CONCLUSIONS: Here, we present a comprehensive review of CEP78 and expand the knowledge of pathogenic CEP78 variants and the phenotypic variety.


Asunto(s)
Retinitis Pigmentosa , Síndromes de Usher , Proteínas de Ciclo Celular/genética , Mutación del Sistema de Lectura , Humanos , Mutación , Linaje , Fenotipo , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/patología , Síndromes de Usher/genética
11.
Disabil Rehabil Assist Technol ; 17(2): 211-220, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-32521181

RESUMEN

BACKGROUND AND AIM: Visual impairment (VI) problems are increasing as the global aging population grows. Mobile devices have become essential to interacting with friends and society. Because the visually impaired are no exception, it would be useful to determine the functionalities that best support the independence of people with VI. The currently available functionalities and applications were analysed to provide insight about which features the visually impaired value most. MATERIALS AND METHODS: A Webropol survey with structured and open-ended questions was carried out. The participants (n = 26) were asked about their use of mobile applications and opinions regarding the usefulness of certain applications in promoting independent functioning. An instrument was developed for this study based on previous literature, and its quality was assured through an expert panel evaluation and pre-testing. The collected data were analysed statistically and by inductive content analysis. RESULTS: A majority of the participants were active users of mobile devices. Substantial variation was observed in the evaluations of how useful various applications are to different everyday tasks. The participants suggested numerous improvements, such as additional customization, to the current mobile devices and applications.Implications for RehabilitationPeople with VI benefit from the use of mobile devices in the same way that the population with normal vision does, and mobile devices and applications can be pivotal to supporting their independence.The participants offered innovative ideas and suggestions for how mobile devices and applications could be designed to better meet the needs of the visually impaired.


Asunto(s)
Aplicaciones Móviles , Baja Visión , Personas con Daño Visual , Anciano , Computadoras de Mano , Humanos , Proyectos Piloto , Trastornos de la Visión
12.
Eur J Ophthalmol ; 28(6): 684-689, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29554811

RESUMEN

PURPOSE:: The purpose of this study was to evaluate the visual function and the ophthalmic status of young Finnish adults with long duration of type 1 diabetes in relation to the history of the metabolic control. METHODS:: A population-based cohort of children with type 1 diabetes examined in the Northern Ostrobothnia hospital district in 1989 (n = 216) was re-examined 18 years later. High-contrast visual acuity (best-corrected visual acuity), contrast sensitivity, refractive error, lens status, intraocular pressure, stage of diabetic retinopathy and received treatments were evaluated. The metabolic control was reflected by the mean of glycated haemoglobin A1 or glycated haemoglobin A1c values of the years 1983-1989 and 1992-2007, respectively. RESULTS:: In all, 96 men and 76 women age 30 ± 3 years with type 1 diabetes duration of 23 ± 4 years attended the re-evaluation. About 60% (103/172) had normal best-corrected visual acuity and 3% had low vision. Contrast sensitivity was abnormal in two-thirds. Half had myopia. Four patients had cataract surgery. Low childhood glycated haemoglobin A1 was indicative, and favourable glycated haemoglobin A1c during youth was a significant predictor of better contrast sensitivity and ocular state in adulthood. CONCLUSION:: The majority of the patients have useful vision, although minor functional impairments are commonly detectable. Long duration of type 1 diabetes in association with non-optimal glycaemic control threatens visual function already at young adulthood. Thus, strong emphasis to control diabetes from onset is important in maintaining good visual function.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Retinopatía Diabética/fisiopatología , Hemoglobina Glucada/metabolismo , Adulto , Estudios de Cohortes , Sensibilidad de Contraste/fisiología , Femenino , Finlandia , Humanos , Cristalino/fisiopatología , Masculino , Errores de Refracción , Factores de Tiempo , Trastornos de la Visión/fisiopatología , Agudeza Visual/fisiología , Adulto Joven
13.
Acta Ophthalmol ; 95(7): 665-670, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28133952

RESUMEN

PURPOSE: To evaluate retrospectively the potential benefit of a routine 1-month ophthalmic check-up after cataract surgery, and the potential harm after terminating this practice and only organizing a check-up for those patients anticipated to need such. METHODS: In 2006, cataract patients of the Oulu University Hospital Eye Clinic were advised to have a check-up at an ophthalmologist 1 month after uneventful surgery, while in 2009, no check-up was regarded necessary. The consecutive first 1000 cataract surgery visits in both 2006 and 2009 are included in this study. Data on intra- and postoperative complications, ocular comorbidity, planned and unplanned postoperative out-patient visits, nights in the hospital and phone calls were gathered until 2014. In both time periods, a hospital check-up was provided for patients experiencing complications or symptoms. RESULTS: There were 31 complications identified during or immediately after cataract surgery in 2006, and 23 in 2009. Fifty-eight (2006) and 27 patients (2009) were assigned an out-patient visit to the hospital. Additional 42 (2006) and 39 patients (2009) contacted the hospital because of symptoms, five (2006) and three (2009) with a referral. Medical or surgical intervention was needed by a third. Long-term complications other than secondary cataract were rare in both groups. Problems attributable to the lack of a 1-month check-up were not found in the later patient group during 5 years of follow-up. CONCLUSION: According to this study, ophthalmic check-up arranged at 1 month after uneventful cataract surgery is unnecessary. However, the 5-10% of patients with intraoperative problems or ocular comorbidities that could interfere with recovery, or postoperative symptoms, should be seen at low threshold.


Asunto(s)
Extracción de Catarata , Visita a Consultorio Médico , Pacientes Ambulatorios , Complicaciones Posoperatorias/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Finlandia/epidemiología , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Periodo Posoperatorio , Estudios Retrospectivos , Agudeza Visual , Adulto Joven
14.
Acta Ophthalmol ; 94(1): 83-91, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26448634

RESUMEN

PURPOSE: To investigate the association of mutations in the mitochondrial DNA (mtDNA) or nuclear candidate genes with mitochondrial disease-related ophthalmic manifestations (nystagmus, ptosis, ophthalmoplegia, optic neuropathy and retinopathy) in children. METHODS: A retrospective cohort of children (n = 98) was identified from the medical record files of a tertiary care hospital. The entire mtDNA and nuclear genes POLG1, OPA1 and PEO1 were analysed from the available DNA samples (n = 38). Furthermore, some nuclear candidate genes were investigated based on family history and phenotype. Rare mtDNA mutations were evaluated using in silico predictors and sequence alignment. RESULTS: Three patients had previously identified mutations in mtDNA that are associated with optic neuropathy (in MT-ND6 and MT-ND1) and nystagmus (in tRNA Arg). Nine rare mutations in MT-ATP6 were identified in seven patients, of whom four manifested with retinopathy and three had clusters of MT-ATP6 mutations. Nuclear PEO1 and OPA1 were unchanged in all samples, but a patient with nystagmus had a heterozygous POLG1 mutation. The analysis of nuclear candidate genes revealed mutations in NDUF8 (patient with nystagmus), TULP1 (patient with optic neuropathy, nystagmus and retinopathy) and RP2 (patient with retinopathy) genes. CONCLUSIONS: Children with retinopathy, nystagmus or optic neuropathy, especially together with developmental delay or positive family history, should be considered for mitochondrial disease. MT-ATP6 should be taken into account for children with retinopathy of unknown aetiology.


Asunto(s)
ADN Mitocondrial/genética , Oftalmopatías/genética , Genoma Mitocondrial , Enfermedades Mitocondriales/genética , Mutación , Adolescente , Blefaroptosis/genética , Niño , Preescolar , Análisis Mutacional de ADN , ADN Polimerasa gamma , ADN Polimerasa Dirigida por ADN/genética , Femenino , Humanos , Lactante , Recién Nacido , Masculino , ATPasas de Translocación de Protón Mitocondriales/genética , Nistagmo Patológico/genética , Oftalmoplejía/genética , Enfermedades del Nervio Óptico/genética , Enfermedades de la Retina/genética , Estudios Retrospectivos
15.
Eur J Ophthalmol ; 24(4): 536-41, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24338582

RESUMEN

PURPOSE: To evaluate the correlation of the change in glaucoma probability score (GPS) and the stereometric optic nerve head (ONH) parameters of the Heidelberg Retina Tomograph (HRT)3 to an event of glaucomatous progression observed with stereoscopic ONH photography. METHODS: The subjects for this retrospective follow-up study were monitored with the HRT and stereoscopic ONH photographs. Stable, high-quality imaging and at least 18 months of follow-up was required. The topography examinations were acquired using HRT II and calculated with HRT3 software. The event of progression was determined by masked evaluation of stereoscopic ONH photographs. RESULTS: A total of 476 eyes of 342 subjects met the inclusion criteria. All the examinations with HRT II were backwards compatible with either the GPS or the stereometric parameters of HRT3. The highest statistical significance for the correlation with progression was observed in the change in cup volume and cup:disc area ratio (p<0.0005). The vertical cup:disc ratio was the parameter with the largest area under the receiver operating characteristics curve (AUC = 0.696). The AUC calculated for the change in GPS was 0.541. The GPS showed no statistically significant correlation with progression (p = 0.213). CONCLUSIONS: Detecting an event of glaucomatous progression should not be based solely on the change in GPS or the stereometric parameters of the HRT. The good backwards compatibility between HRT II and HRT3 should allow the detection of a trend of glaucomatous progression even when changing from HRT II to HRT3 during the follow-up of glaucoma.


Asunto(s)
Glaucoma/diagnóstico , Fibras Nerviosas/patología , Disco Óptico/patología , Fotograbar , Células Ganglionares de la Retina/patología , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Microscopía Confocal , Persona de Mediana Edad , Probabilidad , Curva ROC , Estudios Retrospectivos , Tomografía/métodos
16.
Acta Ophthalmol ; 92(3): 205-8, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-23763986

RESUMEN

PURPOSE: The aim of this study was to evaluate the health-related quality of life (HRQoL) of young adults with type 1 diabetes (T1D) since childhood using the 15D instrument. The possible impact of diabetic retinopathy (DR) and proliferative diabetic retinopathy (PDR) on the HRQoL was focused on. METHODS: During the years 1989-1990, the prevalence of DR was evaluated from ocular fundus photographs of a population-based cohort of children with T1D living in the Northern Osthrobothnia Hospital District, Finland. These 216 individuals were contacted 18 years later and invited for assessment of the 15D HRQoL as well as current stage of DR. The results were compared with age- and gender-standardized Finnish general population. RESULTS: The 15D data were obtained from 123 patients aged 29±3 years with a duration of diabetes of 23±4 years. The mean 15D score was similar in the patients with T1D and the general population [0.954±0.062 versus 0.964±0.052, respectively (p=0.085)]. However, the subgroup of patients with PDR (N=38) had a statistically significantly lower mean 15D score than those subjects with nonproliferative or no DR [0.931±0.086 versus 0.965±0.044, respectively (p=0.026)]. CONCLUSION: Young adults with T1D since childhood had 15D HRQoL score equal to that of age- and gender-standardized general population as long as no more severe than nonproliferative DR was present. Presence of PDR, not T1D of long duration per se, significantly impaired the 15D score.


Asunto(s)
Diabetes Mellitus Tipo 1/psicología , Retinopatía Diabética/psicología , Vigilancia de la Población , Calidad de Vida , Adolescente , Adulto , Niño , Preescolar , Diabetes Mellitus Tipo 1/complicaciones , Retinopatía Diabética/epidemiología , Retinopatía Diabética/etiología , Femenino , Finlandia/epidemiología , Estudios de Seguimiento , Humanos , Masculino , Prevalencia , Estudios Retrospectivos , Encuestas y Cuestionarios , Agudeza Visual , Adulto Joven
18.
Acta Ophthalmol ; 92(8): 749-52, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24862935

RESUMEN

PURPOSE: To evaluate the prevalence and stage of diabetic retinopathy (DR) in a population-based cohort of young Finnish adults who have had type 1 diabetes (T1D) since childhood. MATERIAL AND METHODS: The cohort includes all 5- to 16-year-old patients with T1D who lived in the Northern Ostrobothnia Hospital District of Finland, in 1989 (n = 216). DR was evaluated from fundus photographs taken in 1989-1990 and again in 2007. The patients were 7 ± 4 years age (range 0-15 years) at the time of diagnosis of T1D, and the average duration of diabetes at the re-evaluation was 23 ± 4 years (range 17-32 years). RESULTS: The prevalence of DR was analysed in 172 patients (80% of the original cohort) at 22-35 years. Proliferative DR (PDR) was observed in 35% (60/172) and non-proliferative DR in 59% (101/172), with no signs of DR being present in the remaining 6% (11/172) of the subjects. The prevalence of DR did not differ by gender (p = 0.356). CONCLUSIONS: After the 18-year follow-up, a high prevalence of DR and PDR (94% and 35%, respectively) was found in patients who have had T1D since childhood, with no difference between the genders.


Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Retinopatía Diabética/epidemiología , Adulto , Edad de Inicio , Estudios de Cohortes , Diabetes Mellitus Tipo 1/diagnóstico , Retinopatía Diabética/diagnóstico , Femenino , Finlandia/epidemiología , Humanos , Masculino , Prevalencia , Factores de Tiempo , Adulto Joven
19.
Acta Ophthalmol ; 92(6): 582-7, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24131738

RESUMEN

PURPOSE: Diabetic retinopathy (DR) is the most common complication of diabetes and needs to be diagnosed early to prevent severe sight-threatening retinopathy. Digital photography with telemedicine connections is a novel way to deliver cost-effective, accessible screening to remote areas. Screening for DR in a mobile eye examination unit (EyeMo) is compared to traditional service models (i.e. local municipal services or a commercial service provider). The quality of images, delays from screening to treatment, the stage of DR, coverage of screening and the rate of visual impairment due to DR are evaluated. METHODS: EyeMo utilizes telemedicine technology. The electronic databases of the hospital and information from the Finnish Register of Visual Impairment were used to determine delays and the rate of visual impairment. RESULTS: Fourteen thousand eight hundred and sixty-six fundus photographs were taken in EyeMo in 2007-2011. Coverage reached 78% of potential clients. No DR was detected in 43%, mild background retinopathy in 23%, moderate or severe background retinopathy in 31% and proliferative retinopathy in 3% of the evaluations. The quality of images was higher (p < 0.01) and delays shorter (p < 0.01) in EyeMo as compared to traditional service models. The rate of visual impairment due to DR decreased by 86% in the area covered by EyeMo, and the change compared favourably to the situation in the entire Finland (p < 0.0005). CONCLUSION: EyeMo is a feasible model of telemedicine application for screening of DR. Effective screening and timely access to care may indeed have influenced the reduced rate of visual damage.


Asunto(s)
Retinopatía Diabética/diagnóstico , Tamizaje Masivo , Telemedicina/métodos , Trastornos de la Visión/prevención & control , Personas con Daño Visual/estadística & datos numéricos , Bases de Datos Factuales , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/clasificación , Retinopatía Diabética/terapia , Finlandia/epidemiología , Humanos , Incidencia , Unidades Móviles de Salud , Fotograbar/métodos , Sistema de Registros
20.
Eur J Ophthalmol ; : 0, 2012 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-22729441

RESUMEN

Purpose. To determine whether phacoemulsification cataract surgery with intraocular lens (IOL) implantation interferes with measuring optic nerve head (ONH) topography using the Heidelberg Retina Tomograph (HRT). Methods. The study population consisted of 31 women and 12 men aged 63-81 years with no previous history of eye diseases, surgery, laser procedures, or medication. The patients underwent first eye cataract surgery for senile cataract. The HRT II with software version 1.6 was used to obtain 3-dimensional images of the ONH as a part of a comprehensive ocular examination. The quality of the HRT image was assessed using topography standard deviation (TSD). Topography measurements are considered to be unreliable if TSD is more than 50 µm. Re-examination took place 1 month after surgery. Results. Before surgery, the topography measurements were unreliable in 35% (15/43) of the eyes; in 3 of these cases, ONH topography could not be calculated at all. One month after cataract surgery, the ONH topography could be calculated in all eyes and only one displayed unreliable topography measurements. The mean TSD was 40 µm before and 22 µm after surgery when calculated for all eyes with measurable topographies. The change in TSD was statistically significant (p<0.0005). The image alignment between the HRT examinations before and after surgery was excellent in 67% (26/39). Magnification changes occurred in 21% (8/39). Conclusions. Phacoemulsification cataract surgery with IOL implantation improves the image quality of the HRT. However, because of magnification changes and image misalignment, HRT follow-up of the ONH after cataract surgery is often unreliable.

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