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- Dominant Cystoid Macular Dystrophy. [JOURNAL ARTICLE]
- Ophthalmology 2014 Sep 26.
To describe the clinical characteristics and long-term follow-up in patients with autosomal dominant cystoid macular dystrophy (DCMD).Retrospective case series.Ninety-seven patients with DCMD.Extensive ophthalmic examination, including visual acuity (VA), fundus photography, fluorescein angiography (FA), fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), color vision testing, dark adaptation testing, full-field electroretinography (ERG), and electro-oculography (EOG). Blood samples were obtained for DNA extraction and subsequent haplotype analysis.Age at onset, VA, fundus appearance, and characteristics on FA, FAF, OCT, ERG, and EOG.Cystoid fluid collections (CFCs) were the first retinal abnormalities detectable in DCMD, developing during childhood. At long-term follow-up, the CFCs decreased in size and number, and eventually disappeared with concurrent development of progressive chorioretinal atrophy and hyperpigmented deposits in the posterior pole. Dominant cystoid macular dystrophy could be classified into 3 stages, based on characteristics on ophthalmoscopy, FAF, FA, and OCT, as well as on results of electrophysiologic analysis. The staging system correlated with age and VA. In stage 1 DCMD (20 patients; 22%), patients generally were younger than 20 years and had CFCs with fine folding of the internal limiting membrane and mild pigment changes. In stage 2 DCMD (48 patients; 52%), the CFCs tended to decrease in size, and moderate macular chorioretinal atrophy developed. Patients with stage 3 DCMD (24 patients; 26%) generally were older than 50 years and showed profound chorioretinal atrophy, as well as coarse hyperpigmented deposits in the posterior pole. Most patients were (highly) hyperopic (72 patients; 92%). All DCMD patients shared the disease haplotype at the DCMD locus at 7p15.3.Dominant cystoid macular dystrophy is a progressive retinal dystrophy, characterized primarily by early-onset cystoid fluid collections in the neuroretina, which distinguishes this disorder from other retinal dystrophies. The phenotypic range of DCMD can be classified into 3 stages. The genetic locus for this retinal dystrophy has been mapped to 7p15.3, but the involved gene is currently unknown.
- Nonmydriatic fundus camera for diabetic retinopathy screening in a safety net hospital: effectiveness, prevalence, and risk factors. [JOURNAL ARTICLE]
- Eur J Ophthalmol 2014 Sep 18.:0.
To evaluate diabetic retinopathy (DR) prevalence and risk factors, and the effectiveness of nonmydriatic fundus camera as a screening tool for the detection of DR, in a safety net hospital.This was a retrospective, population-based, cross-sectional study. Diabetic patients, referred by their primary care physicians to a DR community screening program, were included. A Topcon TRC NW-6S camera was used to obtain 45-degree digital color fundus images. Images were interpreted by retina specialists using a quality rating system. Patients with retinal findings or unreadable photographs were referred for a complete examination. Outcome measures were attendance rates, photograph quality, DR prevalence, and associated risk factors.A total of 948 diabetic patients were sent for camera screening, with an attendance rate of 65.6%, which increased during the study period. The mean age was 55.8 ± 11.6 years, the majority (56.9%) were Hispanic, and 43.5% were uninsured. Overall photograph quality rating was relatively high, with 81.7% graded as good or fair. Thirty photographs (2.9%) were unreadable. The prevalence of newly diagnosed DR was 11.1%. Independent DR-associated risk factors included Hispanic race (odds ratio [OR] = 2.29), lack of health insurance (OR = 2.49), longer duration of diabetes (OR = 1.07), higher HbA1c levels (OR = 1.19), presence of diabetic complications (OR = 2.93), and lack of previous eye examination (OR = 13.22).Nonmydriatic fundus camera is an effective and feasible screening tool for the early detection of DR in a safety net institution. It should be considered in areas with limited access to health care to improve quality of care and potentially reduce vision loss rates.
- Nature of the visual loss in observers with Leber's congenital amaurosis caused by mutations in RPE65. [JOURNAL ARTICLE]
- Invest Ophthalmol Vis Sci 2014 Sep 25.
Purpose: To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the retinal pigment epithelium-specific isomerase, RPE65. RPE65 is an important component of the retinoid cycle that restores 11-cis-retinal after its photoisomerization to its all-trans form. The defects investigated here cause Leber's congenital amaurosis (LCA2), an autosomal, recessively-inherited, severe, congenital-onset rod-cone dystrophy. Methods: Vision was assessed in 9 patients and 10 normal controls by measuring: (1) L-cone temporal acuity (critical flicker fusion frequency or cff) as a function of target illuminance, and (2) L-cone temporal contrast sensitivity as a function of temporal frequency at a fixed target illuminance. Measurements were made by modulating either a 650-nm light superimposed on a 480-nm background or the red phosphor of a color monitor on a background produced by the monitor's blue phosphor. Results: RPE65-mutant observers have severely reduced cffs with shallower cff versus log illuminance functions that rise with a mean slope of 4.53 Hz per decade of illuminance compared with 8.69 Hz in normal controls. Consistent with the cff differences, RPE65-mutant observers show losses in temporal contrast sensitivity that increase rapidly with temporal frequency. Conclusions: All RPE65-mutant observers have consistent and substantial losses in temporal acuity and sensitivity compared with normal observers. The losses can be characterized by the addition of two sluggish filters within the mutant visual pathway, both filters with a time constant of 29.5 ms (i.e., low-pass filters with cut-off frequencies of 5.40 Hz).
- Unexpected and permanent central visual loss after removal of intraocular silicone oil. [Journal Article]
- Clin Ophthalmol 2014.:1831-6.
Here we report a case of unexplained sudden visual loss after removal of silicone oil for rhegmatogenous retinal detachment repair. A patient with visual loss in one eye after removal of silicone oil was investigated with best-corrected Snellen visual acuity assessment, fundus biomicroscopy, optical coherence tomography, color fundus photograph, fluorescein angiography, electrophysiologic examination, automated perimetry, and visual evoked potentials. Best-corrected Snellen visual acuity was 20/30 while the silicone oil was in place. Visual acuity dropped dramatically to 20/200 after silicone oil removal. No other complications associated with oil removal were noted. The retina remained attached. Visual evoked potentials revealed decreased amplitude due to a damaged optic nerve, while the earliest central visual field defects disappeared unexpectedly almost 2 years after the last surgical procedure. No other abnormalities were demonstrated. Vision loss is a possible complication of silicone oil and removal. This case was distinguished by the permanent decrease of visual acuity despite the unexplained and quite complete recovery of the foveal threshold with no other relevant visual field defects.
- Ocular outcomes evaluation in a 14-day head-down bed rest study. [Journal Article]
- Aviat Space Environ Med 2014 Oct; 85(10):983-92.
Taibbi G, Cromwell RL, Zanello SB, Yarbough PO, Ploutz-Snyder RJ, Godley BF, Vizzeri G. Ocular outcomes evaluation in a 14-day head-down bed rest study. Aviat Space Environ Med 2014; 85:983-92.We evaluated ocular outcomes in a 14-d head-down tilt (HDT) bed rest (BR) study designed to simulate the effects of microgravity on the human body.Healthy subjects were selected using NASA standard screening procedures. Standardized NASA BR conditions were implemented (e.g., strict sleep-wake cycle, standardized diet, 24-hour-a-day BR, continuous video monitoring). Subjects maintained a 6° HDT position for 14 consecutive days. Weekly ophthalmological examinations were performed in the sitting (pre/post-BR) and HDT (in-bed phase) positions. Equivalency tests with optimal-alpha techniques evaluated pre/post-BR differences in best-corrected visual acuity (BCVA), spherical equivalent, intraocular pressure (IOP), Spectral-domain OCT retinal nerve fiber layer thickness (RNFLT), optic disc and macular parameters.16 subjects (12 men and 4 women) were enrolled. Nearly all ocular outcomes were within our predefined clinically relevant thresholds following HDTBR, except near BCVA (pre/post-BR mean difference: -0.06 logMAR), spherical equivalent (-0.30 D), Tonopen XL IOP (+3.03 mmHg) and Spectralis OCT average (+1.14 μm), temporal-inferior (+1.58 μm) and nasal-inferior RNFLT (+3.48 μm). Modified Amsler grid, red dot test, confrontational visual field, and color vision were within normal limits throughout. No changes were detected on stereoscopic color fundus photography.A few functional and structural changes were detected after 14-d HDTBR, notably an improved BCVA possibly due to learning effect and RNFL thickening without signs of optic disc edema. In general, 6° HDTBR determined a small nonprogressive IOP elevation, which returned to baseline levels post-BR. Further studies with different BR duration and/or tilt angle are warranted to investigate microgravity-induced ophthalmological changes.
- Differences in lens optical plasticity in two gadoid fishes meeting in the Arctic. [JOURNAL ARTICLE]
- J Comp Physiol A Neuroethol Sens Neural Behav Physiol 2014 Sep 21.
Arctic and boreal/temperate species are likely to be evolutionary adapted to different light regimes. Currently, the boreal/temperate Atlantic cod (Gadus morhua) is coexisting with the native polar cod (Boreogadus saida) in the Arctic waters around Svalbard, Norway. Here, we studied light/dark adaptative optical plasticity of their eye lenses by exposing fish to bright light during the polar night. Schlieren photography, high-definition laser scanning and ray tracing were used to determine the optical properties of excised crystalline lenses. Both species have multifocal lenses, an optical adaptation for improved color vision. In polar cod, the optical properties of the lens were independent of light exposure. In the more southern Atlantic cod, the optical properties of the lens changed within hours upon exposure to light, even after months of darkness. Such fast optical adjustment has previously only been shown in a tropical cichlid. During the polar night the Atlantic cod lens seems to be unregulated and dysfunctional since it had an unsuitable focal length and severe spherical aberration. We present a system, to our knowledge unique, for studying visual plasticity on different timescales in relation to evolutionary history and present the first study on the polar cod visual system.
- Color Vision Deficiency in Zahedan, Iran: Lower than Expected. [JOURNAL ARTICLE]
- Optom Vis Sci 2014 Sep 18.
To estimate the prevalence of congenital red-green color vision defects in the elementary school students of Zahedan in 2012.In this cross-sectional study, 1000 students with a mean (±SD) age of 9.0 (±1.4) years were selected randomly from a large primary school population. Color vision was evaluated using the Ishihara pseudoisochromatic color plates (38-plate edition). A daylight fluorescent tube was used as an illuminant C equivalent (i.e., 860 lux, color rendering index greater than 92, and color temperature = 6500 K). Having more than three misreadings on the test was considered a failing criterion. Data were analyzed in SPSS version 17 software using χ tests.Nine students (0.9%) made more than three errors on the Ishihara test. Based on this criterion, the prevalence of red-green color vision deficiency in girls and boys was 0.2 and 1.6% (p = 0.02), respectively.The prevalence of red-green color vision deficiency was found to be significantly lower in Zahedan than comparable reports in the literature.
- Mycobacterium w administration for steroid resistant optic neuritis with long-term follow-up. [JOURNAL ARTICLE]
- Graefes Arch Clin Exp Ophthalmol 2014 Sep 18.
We report the long-term safety and outcomes of off-label Mycobacterium W (Mw) administration in steroid resistant optic neuritis.In a case series, six patients with documented idiopathic corticosteroid refractory unilateral optic neuritis were treated with immuvac (Mycobacterium W extract). The dose was repeated at three months. Outcomes measures included the best corrected visual acuity (BCVA), pupillary reaction, colour vision, visual field(VF) examination (when possible), fundus examination and photography, and visually evoked potential (VEP) testing. BCVA, pupillary reaction, and color vision were monitored immediately prior to steroid therapy on days 1 and 7 post-steroid therapy, pre-Mw administration (i.e., 30 days after the last dose of steroids had been completed) and post-Mw administration on days 1, 7, 30, 90, 120, and 180. VF, VEP, and fundus photography were performed immediately prior to steroid administration, 30 days after the last dose of steroids (i.e., immediately prior to Mw), and at days 30, 90,120 and, 180. The patients were assessed six-month intervals thereafter for visual acuity, colour vision, and visual fields.There were five females and three males in the age range of 30-54 years. Minimum follow-up was five years. All patients showed improvement in visual acuity, colour vision, and pupillary reaction. The patients showed stable improvement. There was no recurrence of the disease and no adverse events till the end of the follow-up period.Mw appears to be safe in the long term and to improve steroid resistant optic neuritis; future randomized clinical trials would help affirm this observation.
- Ocular Morbidity among Street Children in Kathmandu Valley. [JOURNAL ARTICLE]
- Ophthalmic Epidemiol 2014 Sep 17.:1-6.
Abstract Purpose: Prevalence of ocular morbidity among street children is largely unknown. The present study was carried out to determine the prevalence of ocular morbidity among street children in the Kathmandu Valley. Methods: A cross-sectional study consisting of an eye examination program among 569 street children aged younger than 18 years was conducted from March 2013 to February 2014. Children were included from 11 safe houses of 6 non-governmental organizations and an independent eye camp. Eye examination included visual acuity testing, anterior segment and posterior segment examination, retinoscopy and refraction, cover test, convergence, accommodation and color vision tests. Chi-square test was used to analyze the association of ocular morbidity with age, sex and living conditions. Results: The majority of children (43.8%) were in the age group of 12-15 years, and the male to female ratio was 3.9:1. Uncorrected and best-corrected visual acuity ≥6/9 in at least one eye was found in 89.8% and 99.4% of children, respectively. Total ocular morbidity was observed at 31.6%. The most common types of ocular morbidity were conjunctivitis (11.0%) and refractive error (11.6%). Ocular morbidity was more common in children over 15 years of age (40.9%; p < 0.01; odds ratio 1.8). Conclusions: Ocular infection and refractive error represent the most common ocular morbidities in street children in the Kathmandu Valley.
- Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy. [JOURNAL ARTICLE]
- Ophthalmology 2014 Sep 13.
This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement.Case series.Two families and a cohort of 244 individuals with various inherited maculopathies and cone disorders.Genome-wide linkage analysis and exome sequencing were performed in 1 large family with 5 affected individuals. In addition, exome sequencing was performed in the proband of a second family. Subsequent analysis of the identified mutations in 244 patients was performed by Sanger sequencing or restriction enzyme digestion. The medical history of individuals carrying the MFSD8 variants was reviewed and additional ophthalmic examinations were performed, including electroretinography (ERG), multifocal ERG (mfERG), perimetry, optical coherence tomography (OCT), fundus autofluorescence, and fundus photography.MFSD8 variants, age at diagnosis, visual acuity, fundus appearance, color vision defects, visual field, ERG, mfERG, fundus autofluorescence, and OCT findings.Compound heterozygous variants in MFSD8, a gene encoding a lysosomal transmembrane protein, were identified in 2 families with macular dystrophy with a normal or subnormal ERG, but reduced mfERG. In both families, a heterozygous missense variant p.Glu336Gln was identified, which was predicted to have a mild effect on the protein. In the first family, a protein-truncating variant (p.Glu381*) was identified on the other allele, and in the second family, a variant (c.1102G>C) was identified that results in a splicing defect leading to skipping of exon 11 (p.Lys333Lysfs*3). The p.Glu336Gln allele was found to be significantly enriched in patients with maculopathies and cone disorders (6/488) compared with ethnically matched controls (35/18 682; P < 0.0001), suggesting that it may act as a genetic modifier.In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. Affected individuals showed no neurologic features typical for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and devastating multisystem lysosomal storage disease previously associated with mutations in MFSD8. We propose a genotype-phenotype model in which a combination of a severe and a mild variant cause nonsyndromic macular dystrophy with central cone involvement, and 2 severe mutations cause vLINCL.