Colour perception develops throughout childhood with increased risk of deficiencies in children born prematurely.

AIM: To quantify the impact of prematurity on chromatic discrimination throughout childhood, from 2 to 15 years of age. METHODS: We recruited two cohorts of children, as part of the TrackAI Project, an international project with seven different study sites: a control group of full-term children with normal visual development and a group of children born prematurely. All children underwent a complete ophthalmological exam and an assessment of colour discrimination along the three colour axes: deutan, protan and trytan using a DIVE device with eye tracking technology. RESULTS: We enrolled a total of 1872 children (928 females and 944 males) with a mean age of 6.64 years. Out of them, 374 were children born prematurely and 1498 were full-term controls. Using data from all the children born at term, reference normative curves were plotted for colour discrimination in every colour axis. Pre-term children presented worse colour discrimination than full-term in the three colour axes (p < 0.001). Even after removing from the comparison, all pre-term children with any visual disorder colour discrimination outcomes remained significantly worse than those from full-term children. CONCLUSION: While colour perception develops throughout the first years of life, children born pre-term face an increased risk for colour vision deficiencies.

Color perception on Ishihara plates with red lenses in subjects with low vision due to retinal diseases.

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.

Color Vision in the Mountains.

This Lessons from History article uses science, aviation, medicine, and mountaineering sources to describe some of the effects of hypoxia, illumination, and other environmental conditions on the eye, the central nervous system, and light and color perception. The historical perspective is augmented by an analysis of an informal observation of the altered perception of red color on a deck of playing cards while climbing Mera Peak in the Himalaya. The appearance of a grayer red color on the cards was initially attributed to the effects of hypoxia alone. Instead, analysis of cards in combination with the low incidence of protan color vision defects at altitude indicated that glare and contrast effects in the extremely bright lighting environment combined with hypoxia likely caused the perception of a grayer red. The incident provides an educational opportunity for review, analysis, and commentary about some of the complex elements that impact color vision.

The Association Between Acquired Color Deficiency and PET Imaging of Neurodegeneration in Mild Cognitive Impairment and Alzheimer Disease.

Purpose: To evaluate color vision changes and retinal processing of chromatic and luminance pathways in subjects with Alzheimer disease (AD) and mild cognitive impairment (MCI) compared with a matched control group and whether such changes are associated with impaired brain glucose metabolism and ß-amyloid deposition in the brain. Methods: We evaluated 13 patients with AD (72.4 ± 7.7 years), 23 patients with MCI (72.5 ± 5.5 years), and 18 controls of comparable age (P = 0.44) using Cambridge color test and the heterochromatic flicker ERG (HF-ERG). The Cambridge color test was performed using the trivector protocol to estimate the protan, deutan and tritan color confusion axes. HF-ERG responses were measured at a frequency of 12 Hz, which ERGs reflect chromatic activity, and at 36 Hz, reflecting luminance pathway. A study subsample was performed using neuropsychological assessments and positron emission tomography. Results: Patients with AD presented higher mean values indicating poorer color discrimination for protan (P = 0.04) and deutan (P = 0.001) axes compared with the controls. Along the tritan axis, both patients with AD and patients with MCI showed decreased color vision (P = 0.001 and P = 0.001) compared with controls. The analyses from the HF-ERG protocol revealed no differences between the groups (P = 0.31 and P = 0.41). Diffuse color vision loss was found in individuals with signs of neurodegeneration (protan P = 0.002, deutan P = 0.003 and tritan P = 0.01), but not in individuals with signs of ß-amyloid deposition only (protan P = 0.39, deutan P = 0.48, tritan P = 0.63), regardless of their clinical classification. Conclusions: Here, patients with AD and patients with MCI present acquired color vision deficiency that may be linked with impaired brain metabolism.

Association Between Color Vision Deficiency and Myopia in Chinese Children Over a Five-Year Period.

Purpose: To explore the relationship of color vision deficiency with myopia progression and axial elongation in Chinese primary school children during a five-year cohort study. Methods: A total of 2849 grade 1 students (aged 7.1 ± 0.4 years) from 11 primary schools were enrolled and followed up for five years. Cycloplegic autorefraction and axial length were measured annually. Color vision testing was performed using Ishihara's test and the City University color vision test. Results: The prevalence of color vision deficiency was 1.68%, with 2.81% in boys and 0.16% in girls. Color-deficient cases consisted of 91.6% deutan and 8.3% protan. Over the five years, the cumulative incidence of myopia was 35.4% (17/48) in the color-vision deficiency group, which was lower than the 56.7% (1017/1794) in the color normal group (P = 0.004). Over the five-year study period, the change in spherical equivalent refraction in the color vision-deficiency group (-1.81 D) was also significantly lower than that in the color normal group (-2.41 D) (P = 0.002). Conclusions: The lower incidence and slower progression of myopia in children with color-vision deficiency over the five-year follow-up period suggest that color-deficient individuals are less susceptible to myopia onset and development.

IMPAIRMENTS OF L-CONE/M-CONE AND S-CONE-MEDIATED COLOR DISCRIMINATION IN MACULAR TELANGIECTASIA TYPE II.

PURPOSE: To characterize red-green and tritan color discrimination in eyes with macular telangiectasia Type II (MacTel). METHODS: Color discrimination was assessed by metameric matching methods using an Oculus MR Anomaloscope. Red-green color discrimination was assessed using the Rayleigh equation, and tritan color discrimination was assessed using the Moreland equation. Results were expressed as anomalquotient (AQ) and tritanomalquotient (TAQ) units, respectively. RESULTS: Seventeen eyes with MacTel were compared with 16 control eyes with normal vision. Twelve eyes with MacTel demonstrated abnormal color matches; except for two eyes with red-shifted Rayleigh matches, the primary abnormality evident was reduced color discrimination. On average, Rayleigh matching ranges were significantly widened in MacTel (0.518 ± 0.066 AQ units) compared with normal (0.14 ± 0.03 AQ units; P < 0.0001). Similarly, Moreland matching ranges were significantly wider (0.794 ± 0.109 TAQ units) than normal control subjects (0.204 ± 0.070 TAQ units; P < 0.0001). Losses in color discrimination did not correlate significantly with the best-corrected visual acuity, although Moreland matching ranges were significantly correlated to Rayleigh matching ranges. CONCLUSION: MacTel results in a combined acquired red-green and tritan color vision deficiency. A minority of eyes demonstrated red-shifted Rayleigh matches, consistent with decreases in cone photopigment optical density.

Deficits in color detection in patients with Alzheimer disease.

Deficits in color vision and related retinal changes hold promise as early screening biomarkers in patients with Alzheimer's disease. This study aimed to determine a cut-off score that can screen for Alzheimer's dementia using a novel color vision threshold test named the red, green, and blue (RGB) modified color vision plate test (RGB-vision plate). We developed the RGB-vision plate consisting of 30 plates in which the red and green hues of Ishihara Plate No.22 were sequentially adjusted. A total of 108 older people participated in the mini-mental state examination (MMSE), Ishihara plate, and RGB-vision plate. For the analyses, the participants were divided into two groups: Alzheimer's dementia (n = 42) and healthy controls (n = 38). K-means cluster analysis and ROC curve analysis were performed to identify the most appropriate cut-off score. As a result, the cut-off screening score for Alzheimer's dementia on the RGB-vision plate was set at 25, with an area under the curve of 0.773 (p<0.001). Moreover, there was a negative correlation between the RGB-vision plate thresholds and MMSE scores (r = -0.36, p = 0.02). In conclusion, patients with Alzheimer's dementia had a deficit in color vision. The RGB-vision plate is a potential early biomarker that may adequately detect Alzheimer's dementia.

Implications of inherited color vision deficiency on occupations: A neglected entity!

PURPOSE: To highlight the plight of individuals with congenital color vision deficiency (CVD). METHODS: This is a retrospective study in which 191 electronic medical records of individuals with the diagnosis of inherited CVD, who visited the eye institute, between January 2010 and January 2021 were included. The inclusion criteria included diagnosis based on the failure in pseudoisochromatic plates (Ishihara/ Hardy, Rand and Rittler (HRR) and age range between 18 and 35 years. The patient's medical history, age, gender, type of defect, and preference for colored contact lenses was noted. Medical records were excluded if the participant had any other ocular pathology apart from congenital CVD. RESULTS: At least 30% (57/191) of the individuals explicitly requested for color vision examination for a job-related purpose. Amongst them, the most common jobs aspired were army (~25%; [14/57]) followed by police (21%; [12/57]). There was only 2.6% (5/191) of individuals in which the type of CVD (protan/deutan) was classified. Only 5.2% of them (10/191) sought an X-Chrome contact lens trial. CONCLUSION: This study reported the occupational setbacks experienced by individuals with CVD. This study highlights the need to identify CVD at a younger age, thereby avoiding occupational-related setbacks later in life.

Evaluation of acquired color vision deficiency in retinal vein occlusion using the Rabin cone contrast test.

PURPOSE: To investigate acquired color vision deficiency (CVD) using the Rabin cone contrast test (RCCT) in patients with retinal vein occlusion (RVO). METHODS: We retrospectively evaluated 39 patients with macular edema due to RVO who were treated with intravitreal injections of anti-VEGF agents and demonstrated improvement of best-corrected visual acuity to 20/20 Snellen VA or better. The acquired CVD was evaluated by the RCCT and standard pseudo-isochromatic plates-part 2 (SPP-2). RESULTS: Mean L, M, and S color contrast test (CCT) scores were significantly lower in RVO eyes than in the fellow eyes (L CCTs, 70.0 ± 13.3 vs. 90.0 ± 8.0, respectively, P < 0.01; M CCTs, 85.0 ± 16.6 vs. 95.0 ± 5.7, respectively, P < 0.01; S CCTs, 80.0 ± 21.5 vs. 95.0 ± 7.1, respectively, P < 0.01). Acquired CVD was diagnosed in 25 eyes of 39 patients by the RCCT and in 15 eyes of 39 patients by SPP-2. The RCCT was performed on two different days in 21 patients. It revealed acquired CVD in 17 eyes on the first day and in 10 eyes on the second day. Acquired CVD was improved in 9 eyes, unchanged in 8 eyes, and worsened in 2 eyes. CONCLUSIONS: The RCCT revealed eyes with RVO had acquired CVD. Acquired CVD caused by RVO can be improved further in some cases even after recovery of vision to 20/20. The RCCT may be able to quantitatively diagnose acquired CVD status.

Cerebral trauma-induced dyschromatopsia in the left hemifield: case presentation.

BACKGROUND: Acquired color anomalies caused by cerebral trauma are classified as either achromatopsias or dyschromatopsias (Zeki, Brain 113:1721-1777, 1990). The three main brain regions stimulated by color are V1, the lingual gyrus, which was designated as human V4 (hV4), and the fusiform gyrus, designated as V4α. (Zeki, Brain 113:1721-1777, 1990). An acquired cerebral color anomaly is often accompanied by visual field loss (hemi- and quadrantanopia), facial agnosia, prosopagnosia, visual agnosia, and anosognosia depending on the underlying pathology (Bartels and Zeki, Eur J Neurosci 12:172-193, 2000), (Meadows, Brain 97:615-632, 1974), (Pearman et al., Ann Neurol 5:253-261, 1979). The purpose of this study was to determine the characteristics of a patient who developed dyschromatopsia following a traumatic injury to her brain. CASE PRESENTATION: The patient was a 24-year-old woman who had a contusion to her right anterior temporal lobe. After the injury, she noticed color distortion and that blue objects appeared green in the left half of the visual field. Although conventional color vision tests did not detect any color vision abnormalities, short wavelength automated perimetry (SWAP) showed a decrease in sensitivity consistent with a left hemi-dyschromatopsia. Magnetic resonance imaging (MRI) detected abnormalities in the right fusiform gyrus, a part of the anterior temporal lobe. At follow-up 14 months later, subjective symptoms had disappeared, but the SWAP abnormalities persisted and a thinning of the sectorial ganglion cell complex (GCC) was detected. CONCLUSION: The results indicate that although the subjective symptoms resolved early, a reduced sensitivity of SWAP remained and the optical coherence tomography (OCT) showed GCC thinning. We conclude that local abnormalities in the anterior section of fusiform gyrus can cause mild cerebral dyschromatopsia without other symptoms. These findings indicate that it is important to listen to the symptoms of the patient and perform appropriate tests including the SWAP and OCT at the early stage to objectively prove the presence of acquired cerebral color anomaly.

The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the Cnga3-Deficient Mouse Model of Achromatopsia.

Mutations in the CNGA3 gene, which encodes the A subunit of the cyclic guanosine monophosphate (cGMP)-gated cation channel in cone photoreceptor outer segments, cause total colour blindness, also referred to as achromatopsia. Cones lacking this channel protein are non-functional, accumulate high levels of the second messenger cGMP and degenerate over time after induction of ER stress. The cell death mechanisms that lead to loss of affected cones are only partially understood. Here, we explored the disease mechanisms in the Cnga3 knockout (KO) mouse model of achromatopsia. We found that another important effector of cGMP, the cGMP-dependent protein kinase 2 (Prkg2) is crucially involved in cGMP cytotoxicity of cones in Cnga3 KO mice. Virus-mediated knockdown or genetic ablation of Prkg2 in Cnga3 KO mice counteracted degeneration and preserved the number of cones. Analysis of markers of endoplasmic reticulum stress and unfolded protein response confirmed that induction of these processes in Cnga3 KO cones also depends on Prkg2. In conclusion, we identified Prkg2 as a novel key mediator of cone photoreceptor degeneration in achromatopsia. Our data suggest that this cGMP mediator could be a novel pharmacological target for future neuroprotective therapies.

Visual losses in early-onset and late-onset Parkinson's disease.

Patients with Parkinson's disease (PD) manifest visual losses. However, it is not known whether these losses are equivalent in both early-onset (EOPD) and late-onset (LOPD) patients. We evaluated contrast sensitivity and color vision in EOPD and LOPD patients and in age-matched controls. Losses occurred in both patient groups but were more pronounced in EOPD, consistent with the notion that non-motor symptoms are affected by age of symptom onset. More studies of visual function in EOPD and LOPD patients are needed to understand how aging is related to the pathophysiology of non-motor PD symptomatology. This would permit earlier diagnosis and, perhaps, better management of the disease.

Evaluation of contrast sensitivity and color vision in lead and zinc mine workers.

Purpose. This study was performed to determine achromatic contrast sensitivity and color vision in lead and zinc mine workers. Methods. A total of 230 male workers, who had been working in mine and had been in contact with minerals for at least 1 year, were considered as the case group, and the age of 90 years matched men who have not been in contact with minerals, being regarded as the control group. Contrast sensitivity was assessed using the Freiburg test at three frequencies of 1, 5 and 15 cycles of degree and under low mesopic light condition by two gratings and Landolt C stimuli. Color vision was assessed using the Farnsworth D-15 test under high mesopic light condition. Both tests were carried out monocularly. Data were analyzed using version 22 SPSS software. Results. There was a significant difference between studied groups with Landolt C stimulus in all three frequencies 1, 5 and 15 cycles per degree (p=0.009, p=0.016 and p=0.003). With Grating stimulus, there was a significant difference between the two groups in frequencies of 1 and 15 cycles per degree but at frequency of 5 cycles per degree, there was a border difference (p<0.0001, p=0.051 and p=0.008). A significant difference was observed between color confusion indexes of the two groups (p<0.0001). Conclusion. Chronic exposure to mineral in lead and zinc mine may cause color vision deficiency and decrease in contrast sensitivity. It is recommended that Farnsworth D-15 and Freiburg contrast sensitivity tests would be involved in the early diagnosis of neurodegenerative and visual disorders in workers exposed to minerals.

Incidence of dyschromatopsy in glaucoma.

PURPOSE: As proven in studies dating back to the eighteenth century, color vision changes may occur early in the course of glaucoma. Our aim was to reevaluate the incidence of acquired color vision deficiency in glaucoma patients of the University hospital Zürich by using the Panel D-15 test. METHODS: Inclusion criteria of the study involved a diagnosis of glaucoma, age equal or greater than 18 years with no upper limit and a best-corrected visual acuity (BCVA) smaller than ≤ 0.7 logMAR. All volunteers were tested twice monocularly for color vision with (1) the Ishihara color plate test and (2) the Farnsworth and Lanthony Panel D-15 test by one examiner (L.B.). Using the Moment of Inertia Method of Vingrys and King-Smith (Investig Ophthalmol Vis Sci 29(1):50-63, 1988), we measured the color defect type (blue-yellow, red-green or non-selective). RESULTS: One hundred and fifty-one eyes of 87 glaucoma patients were included in this study. Nine eyes showed a deficient result in the Ishihara test, which proves a congenital red-green weakness. Fifty-one (33.8%) eyes showed color vision anomalies in the desaturated test and 24 (15.9%) eyes in the saturated Panel D-15 test. A total of 25.2% and 8.6% of eyes in the desaturated and saturated test were diffuse dyschromatopsia, respectively. The second most prevalent deficiencies were blue-yellow defects with 4.0% and 4.6% of saturated and desaturated results. Just the covariate visual acuity had a significant influence on the Panel D-15 result, whereas other variables like age, sex or intraocular pressure did not show any impact. CONCLUSION: This study ascertains that the long-known theory of color vision defects in patients with glaucoma is also relevant in our sample of 151 eyes, providing continuity to claims firstly reported many years ago. Despite our results highlighting more diffuse dyschromatopsia than other similar experiments, we have also proven that the tritanomalous defects occur more frequently than other color defects.

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.

Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described. We describe a large Irish family with seven affected males. They presented with a variable age of onset, 18 months to 39 years of age. All developed variably present sensorineural deafness, peripheral neuropathy, cerebellar ataxia, and pyramidal involvement. In addition, three had colour vision deficiency. Scale for the assessment and rating of ataxia ranged 2 to 23/40, while Charcot-Marie-Tooth neuropathy score 2 varied between 7 and 13/36. All individuals had normal cognitive assessment. Neurophysiology demonstrated length-dependent large-fibre sensorimotor axonal neuropathy, with particular involvement of superficial radial sensory responses. Brain imaging, performed in four, revealed varying extent of cerebellar atrophy, and white matter changes in one. Optical coherence tomography was abnormal in one, who had unrelated eye pathology. Four obligate female carriers were assessed clinically, two of them neurophysiologically; all were unaffected. Whole genome sequencing demonstrated a previously reported hemizygous AIFM1 mutation. Analysis for mutations in other genes associated with colour deficiency was negative. AIFM1-associated phenotype in this family demonstrated significant variability. To our knowledge, this is the first report of AIFM1-associated colour blindness. Superficial radial nerve was particularly affected neurophysiologically, which could represent a phenotypic marker towards this specific genetic diagnosis.

Color vision study to assess the impaired retina-brain cortex pathway in type 2 diabetes: a pilot study in Calabria (Southern Italy).

The present pilot study was undertaken to investigate the impaired acquired color vision on Calabrian male sample showing this parameter as a biological marker in type 2 diabetes. All patients and controls underwent three pseudo-isochromatic clinical test batteries: Ishihara test, Farnsworth test, and City University test. The results show a specific loss of short-wavelength (blue sensitivity) and typical tritan responses in diabetic patients. Generally, in later stages of the disease, the red-green mechanisms are involved. By the impaired color vision study in diabetic patients, we can confirm the impaired retina-brain cortex pathway. We believe that the above not invasive test analysis can support the other instrumental and imaging analysis to study the impaired retina-brain cortex pathway. Moreover, we think that the present clinical method can be useful in terms of preventive medicine.

Optic Nerve Hemangioblastoma: Review.

BACKGROUND: Hemangioblastomas of the optic nerve are very rare tumors. They occur in association with Von Hippel-Lindau (VHL) syndrome; however, sporadic occurrences have been reported. We describe here a case of optic nerve hemangioblastoma in the absence of VHL and review the pertinent literature. CASE DESCRIPTION: A 33-year-old woman presented with gradually progressive vision loss in the right eye. On examination, the visual acuity on the right was hand movement close to face in all quadrants. Color discrimination was impaired. Fundoscopy revealed optic atrophy and no other retinal pathology. There was relative afferent pupillary defect in the right eye. No neurocutaneous markers were found. Imaging revealed lesion isointense on T1, hyperintense on T2/fluid-attenuated inversion recovery, and showing relatively homogenous enhancement on postcontrast study. Multiple flow voids were seen in the intracranial part of the lesion. The proximal part of the intraorbital right optic nerve was enlarged and tortuous with distended optic nerve sheath. A right single-piece fronto-orbital craniotomy was done. A reddish lesion seen involving the right optic nerve just proximal to the chiasm with multiple vessels and a distinct feeding vessel was seen supplying the tumor. The lesion was excised and the optic nerve was sacrificed approximately 1 cm proximal to the chiasm. The postoperative course was uneventful. CONCLUSIONS: Conclusions: Optic nerve hemangioblastoma is a rare occurrence and a high level of suspicion is required preoperatively in the absence of VHL syndrome.

Impairment of acquired color vision in multiple sclerosis: an early diagnostic sign linked to the greatness of disease.

OBJECTIVE: To assess the type and degree of both red-green and blue-yellow color vision deficiencies of Calabrian males affected by multiple sclerosis. MATERIAL: Eighty Calabrian male patients were enrolled (age range 18-70 years; mean age 40.6 ± 12.4 years) showing a disease duration mean of 10.6 ± 8.2 years (range = 0.5-46 years) coming from the Institute of Neurology, Magna Graecia University, Catanzaro. Optic neuritis present in the medical histories of the 21 patients does not influence color vision. Excluding seven colorblind subjects and one affected by a bilateral maculopathy, the analyzed sample group was 72. Seventy controls were matched for age and sex. METHOD: An ophthalmologist examined all patients and controls in order to rule out diabetic retinopathy, cataracts, senile maculopathy, or ocular fundus' anomalies. The Ishihara test identified the colorblind patients. The City University Test screened for people with abnormal color vision by grading the severity of color vision deficiency. The second part of the City University Test as well as the Farnsworth Test confirmed both the color vision deficiency type and degree. RESULTS: Fifty-one percentage (37/72) of the patients showing a color vision deficiency were subdivided into two subgroups: subgroup one showed red-green deficiency (57%, 21/37); subgroup two showed a coupled red-green and blue-yellow deficiency (43%, 16/37). Furthermore, we found two distinct curves showing a groove within the first 10 years of the disease. Both monocular and binocular analyses allowed us to identify the patients showing the monocular color vision deficiency, but they were well compensated by binocular vision. CONCLUSION: We think that the majority of the patients with the red-green deficiency will develop the coupled red-green and blue-yellow deficiency in the latter years of multiple sclerosis.