-
BMC Ophthalmology Sep 2023Posterior scleritis is an inflammatory reaction of the sclera that occurs posterior to the ora serrata. The aim of this study was to present a case of posterior...
BACKGROUND
Posterior scleritis is an inflammatory reaction of the sclera that occurs posterior to the ora serrata. The aim of this study was to present a case of posterior scleritis and to analyze choroidal circulatory and structural changes using laser speckle flowgraphy (LSFG) and optical coherence tomography (OCT), respectively.
CASE PRESENTATION
A 64-year-old man presented to our department because of hyperemia of the left eye for one week, diplopia, ocular pain, and distorted vision when looking leftward. At an initial examination, his best-corrected visual acuity was 1.0 Oculi uterque (OU), with mild conjunctival hyperemia oculus dexter (OD) and marked ciliary hyperemia oculus sinister (OS). Color fundus photographs revealed a cluster of choroidal folds extending from the macula to the inferior retinal region OS. Swept-Source OCT showed choroidal thickening OD, and bacillary layer detachment and paracentral middle maculopathy on the paracentral side of the optic nerve papilla, suggesting severe inflammation. Fluorescein angiography showed hyperfluorescence in the optic disc and window defects around the macula OU. Indocyanine green angiography showed mottled choroidal vascular hyperpermeability findings in the late stage. B-mode echography displayed thickening of the posterior wall of the left eye. Orbital magnetic resonance imaging showed the thickened posterior eyeball. The patient was diagnosed with posterior scleritis, and 30 mg of oral prednisolone was then given and tapered off over the next 4 months. The hyperemia and intraocular inflammation resolved after the treatment. The rate of change in macular blood flow assessed by the mean blur rate on LSFG was 20.5% and 20.2% decrease OD and OS, respectively, before and after treatment. The central choroidal thickness showed 8.8% and 37.8% decrease OD and OS, respectively.
CONCLUSION
Posterior scleritis complicated with choroiditis was suggested to show different choroidal circulatory dynamics from those in other choroidal inflammations.
Topics: Male; Humans; Middle Aged; Scleritis; Hyperemia; Choroid; Inflammation; Retina
PubMed: 37726746
DOI: 10.1186/s12886-023-03140-8 -
Progress in Retinal and Eye Research Jul 2024Objective assessment of the visual system can be performed electrophysiologically using the visual evoked potential (VEP). In many clinical circumstances, this is... (Review)
Review
Objective assessment of the visual system can be performed electrophysiologically using the visual evoked potential (VEP). In many clinical circumstances, this is performed using high contrast achromatic patterns or diffuse flash stimuli. These methods are clinically valuable but they may only assess a subset of possible physiological circuitries within the visual system, particularly those involved in achromatic (luminance) processing. The use of chromatic VEPs (cVEPs) in addition to standard VEPs can inform us of the function or dysfunction of chromatic pathways. The chromatic VEP has been well studied in human health and disease. Yet, to date our knowledge of their underlying mechanisms and applications remains limited. This likely reflects a heterogeneity in the methodology, analysis and conclusions of different works, which leads to ambiguity in their clinical use. This review sought to identify the primary methodologies employed for recording cVEPs. Furthermore cVEP maturation and application in understanding the function of the chromatic system under healthy and diseased conditions are reviewed. We first briefly describe the physiology of normal colour vision, before describing the methodologies and historical developments which have led to our understanding of cVEPs. We thereafter describe the expected maturation of the cVEP, followed by reviewing their application in several disorders: congenital colour vision deficiencies, retinal disease, glaucoma, optic nerve and neurological disorders, diabetes, amblyopia and dyslexia. We finalise the review with recommendations for testing and future directions.
Topics: Humans; Evoked Potentials, Visual; Color Vision Defects; Color Vision; Color Perception
PubMed: 38761874
DOI: 10.1016/j.preteyeres.2024.101272 -
Documenta Ophthalmologica. Advances in... Dec 2023Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual...
PURPOSE
Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy.
METHODS
We present 13 years of follow-up of a female patient who presented first with symptoms and findings typical for achromatopsia. The patient underwent functional and morphologic examinations, including fundus autofluorescence imaging, spectral-domain optical coherence tomography, electroretinography, color vision and visual field testing.
RESULTS
Diagnostic genetic testing via whole genome sequencing and virtual inherited retinal disease gene panel evaluation finally identified two compound heterozygous variants c.4452_4455del;p.(Lys1484Asnfs*4) and c.2414T > C;p.(Leu805Pro) in the CEP290 gene.
CONCLUSIONS
CEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy.
Topics: Humans; Female; Cone Dystrophy; Color Vision Defects; Electroretinography; Mutation; Phenotype; Retinal Dystrophies; Tomography, Optical Coherence
PubMed: 37642804
DOI: 10.1007/s10633-023-09940-z -
PloS One 2023Colour-related search tasks are common in many professional fields. The study investigated whether increasing chromatic saturation can enhance the visual performance of...
BACKGROUND
Colour-related search tasks are common in many professional fields. The study investigated whether increasing chromatic saturation can enhance the visual performance of individuals with colour vision deficiency (CVD) in colour-related search tasks.
METHODS
10 normal trichromats (5M, 5F; Mean (SD) age: 23.1 (3.3) years) and 15 individuals with CVD [8 deutans and 7 protans identified by HRR plates] (14M, 1F; aged 28.6 (8.7) years) participated in this study. Four naturalistic sceneries of everyday tasks/ birds, animals and flowers of 15 different colour combinations (1 pair of colours in each combination. e.g., 'brown/black' or 'red/green') were presented in 'low' saturation, 'original' (unaltered images) and 'high' saturation condition using the Psychopy program on a colour-calibrated monitor. On each trial, the subject was asked to identify a specific-coloured target.
RESULTS
Overall, the visual search performance index (expressed as product of accuracy and a reciprocal of reaction time (%correct*s-1) of the normal trichromats [Mean (SD):77.76% correct*s-1 (16.32)] was significantly higher than CVD [45.71% correct*s-1 (18.95)] in the "original" test images (p = 0.001), but in individuals with CVD, there was no significant difference between 'original' [45.71% correct*s-1 (18.95)] and 'high' saturation condition ([47.43% correct*s-1 (20.07)]; p > 0.05). However, colour-wise, increased saturation showed improvements (≥ 10%) in protans mainly for 'red' combinations with other colours such as white (i.e., 'red/white'), purple, orange, grey, green, brown and black.
CONCLUSION
The study suggests that increasing the saturation of certain colour combinations can potentially aid in the visual search performance of individuals with CVD. This knowledge will help in better counselling and management of the patients.
Topics: Animals; Chemical Phenomena; Color Vision Defects; Flowers; Humans; Male; Female; Young Adult; Adult
PubMed: 37682873
DOI: 10.1371/journal.pone.0290782 -
Genes Jun 2024Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal disorders (IRDs), the leading cause of sight loss in children and working-age adults.... (Review)
Review
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs result from the dysfunction of the cone photoreceptors in the macula and manifest as the loss of colour vision and reduced visual acuity. Currently, 37 genes are associated with varying forms of ICD; however, almost half of all patients receive no molecular diagnosis. This review will discuss the known ICD genes, their molecular function, and the diseases they cause, with a focus on the most common forms of ICDs, including achromatopsia, progressive cone dystrophies (CODs), and cone-rod dystrophies (CORDs). It will discuss the gene-specific therapies that have emerged in recent years in order to treat patients with some of the more common ICDs.
Topics: Humans; Color Vision Defects; Cone-Rod Dystrophies; Retinal Cone Photoreceptor Cells; Cone Dystrophy; Blindness; Animals; Genetic Therapy
PubMed: 38927662
DOI: 10.3390/genes15060727 -
Ophthalmology. Retina Mar 2024To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess...
OBJECTIVE
To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure.
DESIGN
Retrospective, longitudinal, single-center case series.
PARTICIPANTS
One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom.
METHODS
All case notes, results of molecular genetic testing, and OCT were reviewed.
MAIN OUTCOME MEASURES
Molecular genetics, presenting complaints, rates of nystagmus, nyctalopia, photophobia, strabismus, color vision defects and spherical equivalent refraction (SER). Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging.
RESULTS
X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. The mean (± standard deviation) reported age of onset was 4.94 ± 8.99 years. Over the follow-up period, 95.9% of patients reported reduced visual acuity (VA), half had nystagmus, and 64.7% reported nyctalopia. Incomplete CSNB (iCSNB) patients more frequently had nystagmus and photophobia. Nyctalopia was similar for iCSNB and complete CSNB (cCSNB). Color vision data were limited but more defects were found in iCSNB. None of these clinical differences met statistical significance. There was no significant difference between groups in VA, with a mean of 0.46 logarithm of the minimum angle of resolution, and VA remained stable over the course of follow-up. Complete congenital stationary night blindness patients, specifically those with NYX and TRPM1 variants, were more myopic. CACNA1F patients showed the largest refractive variability, and the CABP4 patient was hyperopic. No significant differences were found in OCT structural analysis during the follow-up period.
CONCLUSIONS
Retinal structure in CSNB is stationary and no specific genotype-structure correlates were identified. Visual acuity seems to be relatively stable, with rare instances of progression.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38522615
DOI: 10.1016/j.oret.2024.03.017 -
Documenta Ophthalmologica. Advances in... Apr 2024Bi-allelic variants in CABP4 are associated with congenital cone-rod synaptic disorder, which has also been classified, electrophysiologically, as incomplete congenital...
PURPOSE
Bi-allelic variants in CABP4 are associated with congenital cone-rod synaptic disorder, which has also been classified, electrophysiologically, as incomplete congenital stationary night blindness (iCSNB). We describe clinical findings in a patient who demonstrated an unusual macular optical coherence tomography (OCT) phenotype, not previously reported in this condition.
METHODS
Our patient underwent multimodal retinal imaging, international standard full-field ERG testing and whole genome sequencing.
RESULTS
The patient was a 60-year-old woman with non-progressive visual impairment since birth, nystagmus and preference for dim lighting. Clinical fundus examination was unremarkable. OCT imaging revealed a hypo-reflective zone under an elevated fovea in both eyes. ERGs showed an electronegative DA10 response, with severely abnormal light-adapted responses. Whole genome sequencing revealed homozygosity for a known pathogenic variant in CABP4. No variants were found in other genes that could explain the patient's phenotype.
CONCLUSIONS
OCT findings of foveal elevation and an underlying hypo-reflective zone are novel in this condition. Whilst the clinical history was similar to achromatopsia and other cone dysfunction syndromes, ERG findings suggested disease associated with CACNA1F or CABP4. As CACNA1F is X-linked, CABP4 was more likely, and confirmed on genetic testing. The patient saw better in dim light, confirming that night blindness is not a feature of CABP4-associated disease. Our case highlights the value of ERGs in discriminating between causes of cone dysfunction, and extends the range of retinal imaging phenotypes reported in this disorder.
Topics: Female; Humans; Middle Aged; Tomography, Optical Coherence; Electroretinography; Retina; Night Blindness; Photoreceptor Cells, Vertebrate; Mutation; Calcium-Binding Proteins
PubMed: 38206458
DOI: 10.1007/s10633-023-09961-8 -
Indian Journal of Ophthalmology Nov 2023This study aimed to evaluate color perception (CP) changes on Ishihara plates following red-tinted contact lenses in subjects with low vision (LV) from retinal diseases. (Observational Study)
Observational Study
PURPOSE
This study aimed to evaluate color perception (CP) changes on Ishihara plates following red-tinted contact lenses in subjects with low vision (LV) from retinal diseases.
METHODS
A cross-sectional observational study without control involved 84 subjects, aged 20-70 years, having LV from retinal diseases to examine CP changes following wearing red-tinted contact lenses. The subjects viewed Ishihara plates, with each eye separately, before and after wearing red lenses in two categories: "plates 1-21" and "plates 22-25". Change in CP with the use of a red lens was the primary outcome measure.
RESULTS
There was a significant increase in the number of plates read in both categories, that is, plates 1-21 (P = 0.002) and plates 22-25 (P = 0.032), the latter being used to diagnose the red-green defects. Although 70 eyes could read both digits on plates 22-25 and appeared to have normal color vision (CV) at baseline, this number rose to 99 eyes following the use of red-tinted lenses. There was a significant change in the type of CP (red defect/green defect/normal/undefined defect) (P = 0.022) with the application of a red-tinted lens.
CONCLUSIONS
The use of red-tinted lenses caused a significant increase in the number of plates read, increased the number of subjects who appeared normal on plates 22-25, and significantly changed CP of LV subjects. These lenses can be a valuable aid for LV subjects. Although Ishihara plates can diagnose only red-green defects, further studies on CV testing techniques that detect both red-green and blue-yellow CV defects are recommended.
Topics: Humans; Color Perception; Vision, Low; Cross-Sectional Studies; Vision Tests; Color Vision Defects; Retinal Diseases; Color Vision
PubMed: 37870020
DOI: 10.4103/IJO.IJO_2532_22 -
International Journal of Molecular... Oct 2023This study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment...
This study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment genes. Materials and Methods: The data of students who underwent routine CVD screening using the Ishihara color test in Kaohsiung, Southern Taiwan were analyzed. Furthermore, the DNA samples of 80 randomly selected females and four obligate carriers were analyzed. The most upstream genes, downstream genes, and the most downstream genes in the red/green pigment gene arrays were amplified separately using polymerase chain reaction (PCR), and exon 5 of each gene was analyzed. The prevalence of congenital red-green CVD in this study was 3.46% in males and 0.14% in females. The PCR analysis of the first gene, downstream gene, and last gene revealed normal patterns in 73 normal cases. Seven unusual patterns were detected in two proton carriers and five deutan carriers. Among the randomly selected females, 8.8% (7/80) were CVD carriers. The prevalence of CVD among male Taiwanese students in this study was 3.46%. Female carriers of congenital CVD can be identified by molecular analysis of the visual pigment genes. The proportion of CVD carriers among the randomly selected females was 8.8%, which was slightly higher than expected and further studies are warranted.
Topics: Humans; Male; Female; Color Vision Defects; Color Perception; Retinal Pigments; Prevalence; Taiwan; Cardiovascular Diseases
PubMed: 37894926
DOI: 10.3390/ijms242015247 -
Sensors (Basel, Switzerland) Jul 2023Ensuring the quality of color contact lenses is vital, particularly in detecting defects during their production since they are directly worn on the eyes. One...
Ensuring the quality of color contact lenses is vital, particularly in detecting defects during their production since they are directly worn on the eyes. One significant defect is the "center deviation (CD) defect", where the colored area (CA) deviates from the center point. Measuring the extent of deviation of the CA from the center point is necessary to detect these CD defects. In this study, we propose a method that utilizes image processing and analysis techniques for detecting such defects. Our approach involves employing semantic segmentation to simplify the image and reduce noise interference and utilizing the Hough circle transform algorithm to measure the deviation of the center point of the CA in color contact lenses. Experimental results demonstrated that our proposed method achieved a 71.2% reduction in error compared with existing research methods.
PubMed: 37514827
DOI: 10.3390/s23146533