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ABSTRACT: Abstract Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired children residing in Denmark aged 0-17 years. Among registered children, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Age-specific data for live children in Denmark were retrieved from Statistics Denmark. Results: Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently with increasing age. In 43% of the children the eye condition was part of a syndrome, while the remaining 57% had eye disease only. The most common hereditary pattern was autosomal recessive (99 children, 66%). Conclusions: This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity in more than one third of the children. Many of the dystrophies are the subject of clinical intervention trials, and nation-wide epidemiological data can help assess the future need for treatment.
Ophthalmic epidemiology 05/2013; · 1.93 Impact Factor
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ABSTRACT: PURPOSE: To assess baseline and follow-up characteristics of choroidal neovascularization (CNV) lesions in age-related macular degeneration in relation to the development of subfoveal subretinal fibrosis. DESIGN: Retrospective, observational case series. METHODS: settings and study population: One hundred ninety-seven treatment-naïve eyes in 197 patients with CNV in age-related macular degeneration without subfoveal fibrosis at first presentation who were treated with ranibizumab in a pro re nata regimen. main outcome measure: Subfoveal fibrosis at the conclusion follow-up of 24 months or fewer. RESULTS: The hazard ratio of any subfoveal fibrosis developing in eyes with predominantly classic CNV was 5.95 (95% confidence interval [CI], 3.25 to 10.90) compared with minimally classic and occult CNV, whereas the hazard ratio of fibrosis developing with foveal atrophy was 3.38 (95% CI, 1.47 to 7.81; mean follow-up, 1.80 years; 95% CI, 1.75 to 1.85 years). The hazard ratio of any fibrosis developing was 3.38 (95% CI, 1.10 to 10.38) in eyes with a baseline best-corrected visual acuity of 40 or worse using Early Treatment Diabetic Retinopathy Study letter scores, as compared with eyes with a baseline best-corrected visual acuity of 70 letters or more. An interval between diagnosis and treatment of 15 days or more was associated with a hazard ratio of any fibrosis developing of 2.24 (95% CI, 1.28 to 3.94) as compared with an interval of fewer than 15 days. Compared with eyes in which fibrosis did not develop, eyes in which prominent fibrosis or fibrosis developed with foveal atrophy lost 8.5 more Early Treatment Diabetic Retinopathy Study letters (95% CI, -1.0 to -15.9; P = .0242) and 10.3 more Early Treatment Diabetic Retinopathy Study letters (95% CI, -4.0 to -16.5; P = .0012), respectively. CONCLUSIONS: The development of subfoveal fibrosis in neovascular age-related macular degeneration was associated with predominantly classic CNV and poorer visual acuity at first presentation, a longer interval between diagnosis and treatment, and approximately 2 lines of additional visual loss at the conclusion follow-up.
American journal of ophthalmology 05/2013; · 3.83 Impact Factor
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ABSTRACT: PURPOSE: To investigate associations of small, hard macular drusen and larger macular drusen with obesity-related risk factors. METHODS: Cross-sectional study of 888 subjects aged 30-60 years characterized using anthropometric measurements and blood sample analyses. Physical activity was assessed by questionnaire. Digital grayscale fundus photographs were recorded in red-free illumination and graded for the presence of macular drusen >63µm in either eye and the presence of 20 or more small, hard macular drusen as a mean of both eyes. RESULTS: Macular drusen >63µm were associated with the level of physical activity, the age- and sex adjusted odds ratio being 0.33 (95% confidence interval 0.13-0.82, P=0.016) for participants who were physically active more than 7 h/week compared with participants active 0-2 h/week. In women, macular drusen >63µm were associated with higher serum triglycerides (P=0.0005). A waist circumference in the top quartile increased the odds for drusen >63µm in men whereas in women having a waist circumference in the middle quartiles reduced these odds. The presence of 20 or more small, hard macular drusen was associated with lower levels of serum high-density lipoprotein cholesterol (HDL) (P=0.029) and with moderately elevated triglycerides. CONCLUSIONS: Precursors of AMD were associated with modifiable obesity-related risk factors, notably low physical activity with drusen >63 µm and lower serum HDL and moderately elevated serum triglycerides with 20 or more small, hard macular drusen per eye. These findings support that a physically active, heart-healthy lifestyle prevents the earliest manifestation of AMD.
Investigative ophthalmology & visual science 05/2013; · 3.43 Impact Factor
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ABSTRACT: Purpose: To examine retinal and choroidal blood vessels using spectral-domain optical coherence tomography (SD-OCT). Methods: Retrospective case series. Results: Scans through retinal blood vessels in healthy subjects demonstrated vessel wall reflexes and a tri-layer profile of the blood column on longitudinal scans and a figure-of-eight configuration on cross-sectional scans. Intravascular reflectivity decreased with increasingly oblique angles of observation and was absent when blood flow was parallel to the line of sight. The high blood flow in the choroidal vessels in healthy subjects and the low flow in the retinal vessels in patients with ocular ischaemic syndrome and central retinal artery occlusion were both associated with lower reflectivity of the blood and an unstructured intravascular SD-OCT profile. Discussion: This qualitative in vivo study found a characteristically structured SD-OCT profile of the blood column in retinal vessels with normal blood flow. Both structure and total reflectivity faded when blood flow was lower or higher than normal or at oblique angles to the line of sight. In conclusion, SD-OCT scans of the vessels in the posterior pole of the eye may assist the clinical assessment of gross abnormalities of ocular blood flow, e.g. in carotid artery stenosis.
Acta ophthalmologica 04/2013; · 2.44 Impact Factor
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ABSTRACT: : To assess the prognostic effect of subretinal deposits in eyes with central serous chorioretinopathy (CSC).
: The study included 21 eyes with foveal detachment and subretinal deposits at presentation that underwent photodynamic therapy (PDT). No symptoms or signs of CSC were found in the fellow eyes. Microperimetry, autofluorescence imaging, and optical coherence tomography were performed in both eyes before and after PDT. Subgroup analyses included comparison of eyes with an initial episode versus a recurrent episode of CSC.
: Four months after PDT, foveal sensitivity had improved significantly in both initial episode eyes and recurrent episode eyes, but sensitivity remained at 3.1 dB (SD = 3.06, P = 0.008) and 2.7 dB (SD = 3.55, P = 0.028), respectively, lower than in the fellow eyes. Four months after PDT, foveal thickness was 245 μm (SD = 24.2) in the initial episode eyes versus 285 μm (SD = 22.6) in the fellow eyes (P < 0.001) and 246 μm (SD = 33.7) in the recurrent episode eyes versus 291 μm (SD = 24.8) in the fellow eyes (P = 0.001).
: Eyes with foveal detachment and subretinal deposits that underwent PDT for CSC did not recover to the functional and structural level of the asymptomatic fellow eyes, irrespective of the number of episodes of CSC. The study indicates that subretinal deposits are associated with irreversible foveal damage in CSC.
Retina (Philadelphia, Pa.) 01/2013; 33(1):128-35. · 2.93 Impact Factor
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Acta ophthalmologica 12/2012; · 2.44 Impact Factor
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ABSTRACT: OPA1 mutations cause autosomal dominant optic atrophy (DOA), a debilitating mitochondrial optic neuropathy characterized by irreversible loss of retinal ganglion cells (RGCs) and progressive visual failure starting in early childhood.(1) Interestingly, ∼20% of OPA1 carriers will develop a more severe form of the disease, DOA+, where the optic atrophy is compounded by additional neurologic features.(1) OPA1 is a multifunctional mitochondrial inner membrane protein, and rather unexpectedly, high levels of cytochrome c oxidase (COX)-negative muscle fibers were recently identified in biopsy specimens from patients manifesting both the pure and syndromal phenotypes.(2,3) These COX-negative muscle fibers harbored high levels of somatically acquired mitochondrial DNA (mtDNA) deletions and marked mtDNA proliferation was also observed, clearly revealing OPA1 to be a novel disorder of mtDNA maintenance.(4) To further investigate this key pathologic mechanism, mtDNA copy number was quantified in blood leukocytes from 3 independent patient cohorts with molecularly confirmed OPA1 mutations.
Neurology 09/2012; 79(14):1515-1517. · 8.31 Impact Factor
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ABSTRACT: Purpose. A small-scale pilot study of the pathophysiology of diabetic macular edema (DME) was made by assessing concomitant changes in macular volume (MV), mean arterial blood pressure (MABP), intraocular pressure (IOP), retinal artery diameter (RAD), and retinal vein diameter (RVD) in response to 120 minutes of pure oxygen breathing.
Methods. Eleven eyes of 11 patients with DME were examined at baseline and while breathing pure oxygen for 120 minutes followed by 120 minutes of breathing atmospheric air. Macular volume was determined by optical coherence tomography, retinal trunk vessel diameters by fundus photography, intraocular pressure by pulse-air tonometry, and arterial blood pressure by sphygmomanometry.
Results. After initiation of pure oxygen breathing, reductions of 2.6% in RAD (p=0.04) and 11.5% reduction in RVD (p<0.001) were observed while MABP increased by 5.2 mmHg. After resumption of atmospheric air breathing, RAD and RVD rapidly returned to baseline values whereas MABP remained 2.3 mmHg higher than baseline (p=0.04). Macular volume was found to be reduced by 1.2% compared to baseline (p=0.04) at 120 minutes after cessation of pure oxygen breathing and resumption of atmospheric air breathing.
Conclusion. These results indicate that the vasomotor response of the retinal arteries alone cannot explain the delayed reduction in macular volume after short course of pure oxygen breathing.
European journal of ophthalmology 08/2012; · 0.96 Impact Factor
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ABSTRACT: BACKGROUND: Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. METHODS: Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1. If negative, direct DNA sequencing of the coding sequence and multiplex ligation-dependent probe amplification (MLPA) were performed. Results from MLPA analysis have been previously reported. Haplotype analysis was carried out analysing single nucleotide polymorphisms (SNP). Retrospective clinical data were retrieved from medical files. RESULTS: Probably causative mutations were identified in 84 out of 93 families (90 %) including 15 novel mutations. Three mutations c.983A > G, c.2708_2711delTTAG and c.2826_2836delinsGGATGCTCCA, were responsible for ADOA in10, 11 and 28 families, respectively, corresponding to 11 %, 12 % and 30 %. A common haplotype in nine of ten c.983A > G families suggests that they descend from a single founder. The c.2708_2711delTTAG mutation was present on at least two haplotypes and has been repeatedly reported in various ethnic groups,thus represents a mutational hotspot. Clinical examinations of index patients with the two latter mutations demonstrated large inter- and intra-familial variations apparently. CONCLUSIONS: Genetic testing for OPA1mutations assist in the diagnosis. We have identified mutations in OPA1 in 90 % of families including 15 novel mutations. Both DNA sequencing and MLPA analysis are necessary to achieve a high detection rate. More than half of the affected families in Denmark are represented by three common mutations, at least two of which are due to a founder effect, which may account for the high prevalence of ADOA in Denmark.
BMC Medical Genetics 08/2012; 13(1):65. · 2.33 Impact Factor
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Acta ophthalmologica 08/2012; 90(5):e404-5. · 2.44 Impact Factor
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ABSTRACT: Purpose: To examine retinal function in relation to retinal perfusion pressure in patients with carotid artery stenosis. Methods: Thirteen patients with carotid artery stenosis without clinical eye disease underwent assessment of ophthalmic artery systolic blood pressure (OSP) by ocular pneumoplethysmography, carotid artery obstructive disease by ultrasonography, intraocular pressure by applanation tonometry, retinal perfusion by fluorescein angiography and retinal function by multifocal electroretinography (mfERG). Data analysis compared the eye on the most stenotic side with the fellow eye in the same patient. Results: Ophthalmic systolic pressure was 95.8 ± 13.1 mmHg on the side with the highest degree of carotid artery stenosis (mean 94.0%) and 111.7 ± 10.3 mmHg in the fellow eyes on the side with the lesser degree of stenosis (mean 33.9%). Summed mfERG implicit times (N1 and P1) were 3.4% and 2.0% longer (p = 0.013 and 0.021), and N1 and P1 amplitudes were 18.0% and 16.0% (p = 0.0041 and 0.020) lower in eyes on the side with the higher stenosis compared with the contralateral eyes. Shorter implicit times and higher amplitudes were correlated with higher brachial systolic arterial blood pressure (p = 0.0028, 0.011, 0.041 for N1, P1, N2 implicit times, respectively, and p = 0.0086, 0.016, 0.040 for N1, P1, N2 for amplitudes, respectively, corrected for OSP). Conclusion: Cone function deviation was observed in clinically healthy eyes on the side with highest degree of carotid artery stenosis and was found correlated to arterial blood pressure.
Acta ophthalmologica 06/2012; · 2.44 Impact Factor
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ABSTRACT: If $E$ is an elliptic curve defined over a quadratic field $K$, and the
$j$-invariant of $E$ is not 0 or 1728, then $E(\mathbf{Q}^{\ab})$ has infinite
rank. If $E$ is an elliptic curve in Legendre form, $y^2 = x(x-1)(x-\lambda)$,
where $\mathbf{Q}(\lambda)$ is a cubic field, then $E(K \mathbf{Q}^{\ab})$ has
infinite rank. If $\lambda\in K$ has a minimal polynomial $P(x)$ of degree 4
and $v^2 = P(u)$ is an elliptic curve of positive rank over $\bbq$, we prove
that $y^2 = x(x-1)(x-\lambda)$ has infinite rank over $K\bbq^{\ab}$.
02/2012;
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ABSTRACT: Let $K$ be a field whose absolute Galois group is finitely generated. If $K$
neither finite nor of characteristic 2, then every hyperelliptic curve over $K$
with all of its Weierstrass points defined over $K$ has infinitely many
$K$-points. If, in addition, $K$ is not locally finite, then every elliptic
curve over $K$ with all of its 2-torsion rational has infinite rank over $K$.
These and similar results are deduced from the Hales-Jewett theorem.
02/2012;
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ABSTRACT: To report incidence rates of legal blindness from age-related macular degeneration (AMD) and other causes in Denmark from years 2000 to 2010 in the age group at risk of AMD aged 50 years and older.
Population-based observational registry study.
settings: Membership register of the Danish Association of the Blind, the primary admission criterion of which is best-corrected visual acuity 0.1 (20/200) or lower in a person's better-seeing eye. study population: A total of 11 848 incident cases of legal blindness from a population of citizens aged ≥50 years numbering 1.71 million in 2000 and 1.87 million in 2010 with free access to a single-payer public health care system. main outcome measures: Incidence rates of legal blindness from AMD from 2000 to 2010.
The incidence rate of legal blindness attributable to AMD in citizens aged ≥50 years decreased from 52.2 cases per year per 100 000 in 2000 to 25.7 cases per year per 100 000 in 2010, corresponding to a reduction of 50% (95% confidence interval [CI(95)]: 45%-56%, P < .0001, adjusted for age), the bulk of the reduction occurring after 2006. The incidence of legal blindness from causes other than AMD decreased by 33% (CI(95): 21%-44%, P < .0001), most of the reduction occurring between 2000 and 2006.
From 2000 to 2010 the incidence of legal blindness from AMD fell to half the baseline incidence. The bulk of the reduction occurred after the introduction of intravitreally injected inhibitors of vascular endothelial growth factor in 2006.
American journal of ophthalmology 02/2012; 153(2):209-213.e2. · 3.83 Impact Factor
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Acta ophthalmologica 01/2012; 90(5):e407-9. · 2.44 Impact Factor
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ABSTRACT: To evaluate comorbidity before and after the diagnosis of branch retinal vein occlusion to determine whether it is a consequence of arterial thickening and therefore could serve as a diagnostic marker for other comorbidities and to evaluate the risk factors for the development of such occlusion.
Case-control study with prospective follow-up data from Danish national registries.
Four secondary referral centres covering about 80% of the Danish population (4.4 million).
1168 patients with photographically verified branch retinal vein occlusion and 116 800 controls alive and aged ≥40 when the occlusion was diagnosed in the corresponding case.
The risk of comorbidity 10 years and 1 year before the diagnosis of branch retinal vein occlusion and the incident comorbidity in a mean period of seven years after the diagnosis, with odds ratios and incidence rate ratios adjusted for age, sex, and year of diagnosis.
Risk factors present 10 years and 1 year before the diagnosis of branch retinal vein occlusion included peripheral artery disease (odds ratio 1.83, 95% confidence interval 1.14 to 2.95), diabetes (1.74, 1.40 to 2.17) and arterial hypertension (2.16, 1.86 to 2.51). After the diagnosis, patients had an increased risk of developing arterial hypertension (incidence rate ratio 1.37, 95% confidence interval 1.15 to 1.57), diabetes (1.51, 1.17 to 2.04), congestive heart failure (1.41, 1.12 to 1.68), and cerebrovascular disease (1.49, 1.27 to 1.76).
Diabetes, hypertension, and peripheral artery disease are associated with an increased risk of developing branch retinal vein occlusion up to a decade later. Branch retinal vein occlusion was associated with an increased risk of subsequently developing hypertension, diabetes, congestive heart failure, and cerebrovascular disease, emphasising the importance of preventive initiatives. These results fit the assumption that branch retinal vein occlusion is a consequence of arterial thickening and that the arteriovenous crossing signs that precede it are hallmarks of arterial disease.
BMJ (Clinical research ed.). 01/2012; 345:e7885.
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ABSTRACT: To report on the retinal function and structure in a 37-year-old male who presented with a tapetal-like reflex (TLR) indistinguishable from that seen in female carriers of X-linked retinitis pigmentosa (XLRP).
Clinical examination included dark adaptometry, full-field electroretinography (ERG), multifocal ERG, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic testing included screening for known mutations in autosomal dominant, autosomal recessive, and X linked retinitis pigmentosa (RP) genes with a commercially available chip, and sequencing analysis of retinitis pigmentosa GTPase regulator (RPGR)-open reading frame 15 (ORF15).
Fundus examination revealed a bilateral TLR, which is typical of female carriers of XLRP. Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation. Mutation screening was negative.
TLR was found for the first time, to the best of our knowledge, in a male subject. There were no definitive signs of retinal degeneration, suggesting that this reflex in itself is not necessarily a precursor of the retinal degeneration that can be seen in female carriers of XLRP.
Molecular vision 01/2012; 18:1147-55. · 2.20 Impact Factor
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ABSTRACT: The human lens is continuously exposed to high levels of light. Ultraviolet radiation is believed to play a causative role in the development of cataract. In vivo, however, the lens is mainly exposed to visible light and the ageing lens absorbs a great part of the short wavelength region of incoming visible light. The aim of the present study was to examine the optical effects on human lenses of short wavelength visible light and ultraviolet radiation.
Naturally aged human donor lenses were irradiated with UVA (355 nm), violet (400 and 405 nm) and green (532 nm) lasers. The effect of irradiation was evaluated qualitatively by photography and quantitatively by measuring the direct transmission before and after irradiation. Furthermore, the effect of pulsed and continuous laser systems was compared as was the effect of short, intermediate and prolonged exposures.
Irradiation with high intensity lasers caused scattering lesions in the human lenses. These effects were more likely to be seen when using pulsed lasers because of the high pulse intensity. Prolonged irradiation with UVA led to photodarkening whereas no detrimental effects were observed after irradiation with visible light.
Irradiation with visible light does not seem to be harmful to the human lens except if the lens is exposed to laser irradiances that are high enough to warrant thermal protein denaturation that is more readily seen using pulsed laser systems.
BMC Ophthalmology 12/2011; 11:41. · 1.00 Impact Factor
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ABSTRACT: To examine retinal electrophysiological function and retinal thickness in healthy eyes before and after hyperbaric oxygen (HBO) exposure.
The healthy eye in each of six subjects who underwent experimental HBO treatment for branch retinal vein occlusion in the fellow eye was examined using multifocal electroretinography (mfERG) and optical coherence tomography (OCT) at baseline and following a course of five consecutive daily sessions of exposure to HBO at 2.4 atmospheres of absolute pressure lasting 90 min each.
After HBO, P1 implicit times of the mfERG were significantly shorter than at baseline. The response was delayed, being undetectable on the day treatment concluded, whereas a 2.65% reduction in implicit time was seen 1 week later (p = 0.032). The P1 implicit time remained 2.49% shorter than at baseline 1 month after the end of the HBO sessions (p = 0.020). The bulk of the response to HBO was found in the foveal and parafoveal regions. No detectable change was seen in mfERG amplitudes or in the volume or thickness of the retina.
A mfERG component related to bipolar and Müller cell function was accelerated by a short intermittent exposure to HBO. The response developed after the end of the HBO exposure and lasted for at least 3 weeks, suggesting that it was prompted by the withdrawal of HBO rather than the onset and subsequent brief exposure to HBO.
Acta ophthalmologica 12/2011; 89(8):774-8. · 2.44 Impact Factor
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Acta ophthalmologica 10/2011; 90(4):e321-2. · 2.44 Impact Factor
