BACKGROUND:Optic disc drusen (ODD) are hyaline deposits located within the optic nerve head. Peripapillary retinal nerve fiber layer (RNFL) thinning is associated with the high prevalence of visual ...field defects seen in ODD patients. The goal of this study was to investigate the characteristics of patients with ODD and to compare the peripapillary RNFL thickness to the extent of visual field defects and anatomic location (superficial or buried) of ODD.
METHODS:Retrospective, cross sectional study.
RESULTS:A total of 149 eyes of 84 ODD patients were evaluated. Sixty-five percent were female and 76% had bilateral ODD. Of 149 eyes, 109 had superficial ODD and 40 had buried ODD. Peripapillary RNFL thinning was seen in 83.6% of eyes, where optical coherence tomography was performed (n = 61). Eyes with superficial ODD had greater mean peripapillary RNFL thinning (P ≤ 0.0001) and visual field defects (P = 0.002) than eyes with buried ODD. There was a correlation between mean peripapillary RNFL thinning and visual field defects as measured by perimetric mean deviation (R-0.66; P = 0.0001). The most frequent visual field abnormalities were arcuate and partial arcuate defects.
CONCLUSIONS:Peripapillary RNFL thickness correlates with anatomic location (superficial or buried) of ODD. Frequency and extent of visual field defects corresponded with anatomic location of ODD and peripapillary RNFL thickness, suggesting increased axonal damage in patients with superficial ODD.
The purpose of this study was to examine the ocular and systemic risk profile of the fundus phenotype ≥ 20 small hard (macular) drusen (< 63 μm in diameter).
This single-center, cross-sectional study ...of 176 same-sex twin pairs aged 30 to 80 (median 60) years was a component of a framework study of the transition from not having age-related macular degeneration to having early AMD. Drusen categories assessed using fundus photography and optical coherence tomography included small hard drusen (diameter < 63 μm), intermediate soft drusen (63-125 μm), and large soft drusen (> 125 μm), of which the soft drusen are compatible with a diagnosis of AMD.
Having ≥ 20 small hard drusen within or outside the macula was associated with increasing age, lower body mass index, shorter axial length, hyperopia, female sex, increasing high-density lipoprotein (HDL), high alcohol consumption, and with the presence of soft drusen.
Having ≥ 20 small hard drusen was associated with some AMD-related risk factors, but not with smoking, increasing body mass index, and higher blood pressure. Having ≥ 20 small hard drusen was also associated with soft drusen, in agreement with previous studies. These findings suggest that small hard drusen are not an early manifestation of AMD but the product of a distinct process of tissue alteration that promotes the development of AMD or some subtype thereof.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
To investigate the visual outcome, pattern of discontinuation, ocular complications, and mortality of patients treated with a variable ranibizumab dosing regimen for neovascular age-related macular ...degeneration (AMD) for 4 years.
Retrospective chart review supplemented with clinical examination.
Six hundred eyes of 555 patients initiated intravitreal treatment with vascular endothelial growth factor inhibition for neovascular AMD in 2007 in a community-based hospital.
Patient data from a database were retrieved from 2007 through 2011. Descriptive evaluation of the main outcome measures was carried out for the cohort of patients. A group of patients who had been discontinued because of apparent disease inactivity was reexamined.
Best-corrected visual acuity (BCVA; Snellen), number of intravitreal injections, causes of discontinuations, ocular complications, and standardized mortality rate.
One hundred ninety-two eyes (32%) were still receiving active treatment after 4 years. The mean BCVA in the 192 eyes was unchanged from the start (baseline, 0.30; 4-year follow-up, 0.32; P>0.3). Visual acuity after the third loading dose was associated significantly with the outcome (P<0.0001) and was a better predictor than baseline acuity. The mean number of injections was 5.5 per year. For 408 eyes (68%), discontinuation of treatment was motivated by the following 4 reasons: lack of apparent treatment response (28%), failure to appear at follow-up (11%), death (9%), and disease inactivity (20%, 120 eyes). Treatment was resumed later in 18% of patients discontinued because of inactivity. Sixty-seven eyes were reexamined in 2012 from the group of patients with disease inactivity. The final visual acuity by then had decreased significantly from the time of discontinuation, from 0.38 to 0.15 (P = 0.001). Endophthalmitis occurred in 2 eyes of 7584 injections. A total of 125 patients had died, corresponding to 75% of the mean mortality in the community.
One third of the eyes were still receiving active treatment after 4 years and had stable visual acuity. One third of fellow eyes (eyes at risk) started treatment during the 4 years. One fifth of discontinued eyes resumed treatment, indicating that close follow-up should be maintained for patients discontinued because of disease inactivity. The ocular complication rate was 0.2%, and the mortality rate was below expected.
Lens and skin fluorescence are related to the systemic accumulation of advanced glycation end products, which is accelerated in diabetes. We have examined lens fluorescence and skin fluorescence in ...healthy adult twins. The study enrolled twins aged median 59 years from a national population-based registry. Diabetic individuals were excluded from analysis. The interrelatedness between fluorescence parameters and relations between fluorescence and age, current HbA.sub.1c and smoking pack years were examined using correlation tests and mixed model linear regression analyses. Broad-sense heritability was analyzed and compared for lens fluorescence, skin fluorescence and HbA.sub.1c . Lens fluorescence and skin fluorescence were crudely interrelated (R = 0.38). In linear regression analyses, age explained a larger fraction of the variance in lens fluorescence (R.sup.2 = 32%) than in skin fluorescence (R.sup.2 = 20%), whereas HbA.sub.1c explained smaller variance fractions (R.sup.2 = 3% and 8%, respectively) followed by smoking pack years (4% and 3%, respectively). In multivariate analyses, age, HbA.sub.1c and smoking pack years combined explained more of the variance in lens fluorescence (R.sup.2 = 35%) than in skin fluorescence (R.sup.2 = 21%), but the influence of HbA.sub.1c on lens fluorescence was not statistically significant (p = .2). Age-adjusted broad-sense heritability was 85% for lens fluorescence, 53% for skin fluorescence and 71% for HbA.sub.1c in best fitting heritability models. Both fluorescence parameters increased with age, current glycemia and cumulative smoking. Lens fluorescence was found to be a predominantly heritable trait, whereas skin fluorescence was more influenced by environmental factors and closer related to current glycemia. The results suggest that skin fluorophores have a faster turn-over than lens fluorophores.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The blue-green autofluorescence of the ocular lens increases with age, glycemia and smoking, as the irreplaceable structural proteins of the lens slowly accumulate damage from the encounter with ...reactive molecular species. We have conducted a prospective study of lens autofluorescence over two decades in a twin cohort. The study included 131 phakic, non-diabetic adult twins (median age at follow-up 58 years, range 41-66 years) who were examined twice at an interval of 21 years. Change in anterior lens peak autofluorescence was analyzed in relation to age, current and baseline glycemia, cumulative smoking and heritability. The level of lens autofluorescence in the study population increased as a function of age and smoking (p ≤.002), but not as a function of glycemia (p ≥.069). Lens autofluorescence remained a highly heritable trait (90.6% at baseline and 93.3% at follow-up), but whereas the combined effect of age and cumulative smoking explained 57.2% of the variance in lens autofluorescence at baseline in mid-life, it only accounted for 31.6% at follow-up 21 years later. From mid to late adulthood, the level of blue-green fluorescence remained overwhelmingly heritable, but became less predictable from age, smoking habits and glycemic status. Presumably, as the lens ages, its intrinsic characteristics come to dominate over environmental and systemic factors, perhaps in a prelude to the development of cataract.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 ...mutations.
Observational study.
Four family members.
Clinical examinations included full-field electroretinogram (ffERG) after standard (30-minute) and prolonged (17-hour) dark adaptation, multifocal electroretinogram (mfERG), optical coherence tomography (OCT), and fundus autofluorescence (FAF). Molecular genetic testing included sequencing of RDH5 and RLBP1 and screening for known autosomal-recessive retinitis pigmentosa mutations by a commercially available microarray technique. RPE65 sequencing was performed after the identification of a known heterozygous splice-site mutation by array screening.
We recorded ffERG and mfERG amplitudes, OCT characteristics, the FAF intensity index, and the outcomes of DNA sequencing regarding RPE65 mutations.
Uniform, yellow-white dots typical of fundus albipunctatus were demonstrated in the proband. These dots corresponded with discrete, hyperreflective formations extending from the Bruch's membrane and retinal pigment epithelium (RPE) into the level of the external limiting membrane, thus spanning along the entire RPE and photoreceptor outer and inner segments. A reduced thickness of the central retina and the RPE-outer segment complex was demonstrated. The intensity of the FAF was severely reduced in the entire fundus. At age 18, ffERG-including prolonged dark adaptation-demonstrated a barely recordable rod response after standard dark adaptation and normalization (increase by more than 700%) of the response after prolonged dark adaptation. The cone 30-Hz flicker response was reduced after standard dark adaptation and increased by >50% after prolonged dark adaptation. In addition, mfERG demonstrated reduced central and peripheral responses. Molecular genetic analysis demonstrated compound heterozygous mutations (IVS1+5G>A and c.344T>C) in RPE65. No mutations were found in RDH5 or RLBP1. No significant abnormalities of retinal structure or function were detected in the parents and sister carrying single heterozygous mutations in RPE65.
This is the first reported association between compound heterozygous RPE65 mutations and fundus albipunctatus, indicative of a mutation-specific phenotypic effect in this gene. This finding, together with the reduced FAF, supports that disruption of retinoid recycling in the RPE is essential for the development of fundus albipunctatus.
Optical coherence tomography (OCT) is a noninvasive imaging technique that provides real-time two- and three-dimensional images of scattering samples with micrometer resolution. By mapping the local ...reflectivity, OCT visualizes the morphology of the sample. In addition, functional properties such as birefringence, motion, or the distributions of certain substances can be detected with high spatial resolution. Its main field of application is biomedical imaging and diagnostics. In ophthalmology, OCT is accepted as a clinical standard for diagnosing and monitoring the treatment of a number of retinal diseases, and OCT is becoming an important instrument for clinical cardiology. New applications are emerging in various medical fields, such as early-stage cancer detection, surgical guidance, and the early diagnosis of musculoskeletal diseases. OCT has also proven its value as a tool for developmental biology. The number of companies involved in manufacturing OCT systems has increased substantially during the last few years (especially due to its success in opthalmology), and this technology can be expected to continue to spread into various fields of application.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UILJ, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Hyperreflective dots are a common but highly variable feature of optical coherence tomography (OCT) scans of the retina. We studied the spatial characteristics and perfusion of hyperreflective dots ...using both structural and angiographic OCT B-scans of the macula in 16 eyes in 8 healthy subjects and 8 patients with diabetic retinopathy without macular edema. Hyperreflective dots were manually graded in a 1000 µm parafoveal area by number, diameter, location and perfusion status and traced through adjacent B-scans at 11 µm intervals to determine their length. Thereby, this study defined a procedure to identify granular and elongated hyperreflective elements and differentiate between presumably perfused and occluded capillaries. The latter were only found in the diabetic patients. This classification can potentially be automated to non-invasively identify capillary non-perfusion in vivo.
Background
Idiopathic intracranial hypertension (IIH) is a condition of raised intracranial pressure (ICP) in the absence of space-occupying lesions or other known etiology. It primarily affects ...young obese females, and potentially causes permanent visual loss due to papilledema and secondary optic atrophy. The aim of this study was to evaluate the diagnostic value of optical coherence tomography (OCT) as a marker for CSF opening pressure in patients with idiopathic intracranial hypertension (IIH).
Methods
We conducted a case-control study of 20 newly diagnosed, 21 long-term IIH patients, and 20 healthy controls. Investigations included measurement of peripapillary retinal nerve fiber layer thickness (RNFLT) and total retinal thickness (RT), automated visual field testing, and measurement of CSF opening pressure. An OCT elevation diagram was developed as a new diagnostic tool. The diagnostic ability of OCT as a marker of increased ICP (> 25 cmH
2
O) was investigated using multiple regression and receiver operating characteristic (ROC) curves.
Results
OCT elevation diagrams showed that in 60 % of patients newly diagnosed with IIH and in 10 % of patients with long-term IIH, 50 % or more of the OCT scans (RT and RNFLT) were above normal. The percentage of abnormal OCT scans was significantly associated with increased ICP (
p
< 0.0001). Estimated areas under the ROC curves increased from 77.1 to 86.9 by including OCT in multiple regressions. Autoperimetry pattern standard deviation was significantly increased (
p
= 0.0005) and mean deviation was significantly decreased (
p
= 0.0005) in IIH patients as compared to healthy controls.
Conclusions
Increased peripapillary retinal thickness measured by OCT is associated with increased ICP in newly diagnosed IIH patients. OCT may thus serve as a valuable supplement to subjective assessment of papilledema in patients suspected of having IIH. In long-term IIH patients who have previously been treated, OCT appears to be of limited value in predicting ICP.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
To assess the prognostic significance for visual function of persistent subfoveal fluid and persistent photoreceptor layer discontinuity in eyes in which hole closure had been obtained 3 months after ...macular hole surgery.
Ancillary study of subjects enrolled in a randomized clinical trial.
Participants were recruited from a randomized clinical trial evaluating internal limiting membrane (ILM) peeling in macular hole surgery. The study included 74 eyes in which a contiguous retinal surface or a full attachment with a flat neuroretinal rim had been reestablished after macular hole surgery.
Contrast-enhanced optical coherence tomography was used to detect closure defects involving substrata of the retina with particular emphasis on the photoreceptor layer. Outcomes were compared with best-corrected visual acuity (BCVA) 12 months after surgery.
Postoperative foveal configuration and foveal photoreceptor layer discontinuity diameter 3 months after macular hole surgery.
Persistent subfoveal fluid 3 months after macular hole surgery, which was found in 36.5% of eyes, was not associated with a significantly different BCVA after 12 months compared with eyes with a fully attached fovea at 3 months (70.9 letters vs. 72.0 letters; P = 0.59). Receiver operating characteristics curve analysis identified persistent photoreceptor layer discontinuity of a diameter of more than 1477 microm after 3 months to be associated with poorer BCVA after 12 months (P<0.001), yet an overall reduction in discontinuity diameter from 3 to 12 months (P<0.001) was not correlated with a concurrent improvement in BCVA (r = -0.040; P = 0.81). Persistence of fluid and diameter of discontinuity at 3 months were not related to whether ILM peeling was used; however, secondary macular hole surgery had a significant influence on diameter of photoreceptor layer discontinuity at 3 months.
Structural recovery in the form of photoreceptor layer discontinuity with a diameter of more than approximately 1500 microm 3 months after macular hole surgery was associated with poorer visual acuity after 12 months than less extensive discontinuity. Subfoveal fluid persisting after 3 months had disappeared after 12 months in all but 5 of 74 eyes and had no effect on final visual outcome.
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