Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

BACKGROUND: ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision. METHODS: Detailed ophthalmological examinations were performed in a Chinese patient with ACHM. Whole exome sequencing and Sanger sequencing were performed to detect the disease-causing gene in the patient. RESULTS: A 6-year-old girl presented photophobia, low vision and reduced color discrimination. Small yellow lesion in the macula of both eyes was observed. FAF demonstrated hypofluorescence in the macular fovea. OCT images revealed interruption of ellipsoid and interdigitation zone in the foveal area and a loss of the foveal pit. ERG showed relatively normal rod responses and unrecordable cone responses. Sequencing result identified a novel splicing variant c.354 + 6T>C in the ATF6 gene (NM_007348.4). CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.

Comparison of Two Printed Pseudoisochromatic Tests for Color Vision Assessment.

SIGNIFICANCE: The Waggoner PIP24 is a pseudoisochromatic test with a pattern similar to the Ishihara test. This study determined that the W-PIP24 can be used clinically to yield screening results (or sensitivity and specificity) comparable with the Ishihara. PURPOSE: This study aimed to determine whether the W-PIP24 is equivalent to the Ishihara 38 edition pseudoisochromatic test in detecting red-green color vision defects. Also, the performance of each plate of the W-PIP24 in detecting the color vision defects relative to the Ishihara test was determined. METHODS: Sixty-three individuals with congenital red-green color vision defects and 57 with normal trichromacy were recruited. Participants were tested with both the Ishihara and W-PIP24. The first-order agreement coefficients were calculated for the Ishihara and W-PIP24. The results were also analyzed using specificity, sensitivity, efficiency, and predictive pass and fail values. RESULTS: The agreement between the W-PIP24 and Ishihara test using the recommended criterion of using all plates was perfect. The sensitivity, specificity, predictive pass, and predictive fail were 1.00 (95% confidence interval, 0.94 to 1.00). CONCLUSIONS: This study showed that the W-PIP24 using a failure criterion of three or more errors on screening plates 1 to 15 is equivalent to the Ishihara test while screening for red-green color vision deficiency using a failure criterion of three or more errors on screening plates 1 to 17 of the Ishihara 38 edition.

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.

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.

PURPOSE: CNGA3 encoding the main subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is one of the major disease-associated genes for achromatopsia. Most CNGA3 variants are missense variants with the majority being functionally uncharacterized and therefore hampering genetic diagnosis. In light of potential gene therapy, objective variant pathogenicity assessment is essential. METHODS: We established a medium-throughput aequorin-based luminescence bioassay allowing mutant CNGA3 channel function assessment via quantification of CNGA3 channel-mediated calcium influx in a cell culture system, thereby enabling American College of Medical Genetics and Genomics/Association for Molecular Pathology-based variant re-classification. RESULTS: We provide functional read-out obtained for 150 yet uncharacterized CNGA3 missense substitutions of which 55 were previously categorized as variants of uncertain significance (VUS) identifying 25 as functionally normal and 125 as functionally abnormal. These data enabled the American College of Medical Genetics and Genomics/ Association for Molecular Pathology-based variant re-classification of 52/55 VUS as either benign, likely benign, or likely pathogenic reaching a VUS re-classification rate of 94.5%. CONCLUSION: Our aequorin-based bioassay allows functionally ensured clinical variant interpretation for 150 CNGA3 missense variants enabling and supporting VUS re-classification and assuring molecular diagnosis to patients affected by CNGA3-associated achromatopsia, hereby identifying patients eligible for future gene therapy trials on this disease.

Achromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report.

Achromatopsia, inherited in an autosomal recessive manner, is a rare condition featured by dysfunction of cone photoreceptors responsible for high-acuity vision in daylight. To date, its pathogenesis and genetic mechanism are still not well defined due to the rarity of cases. In this study, the authors describe a patient with achromatopsia who was diagnosed based on the combination of whole exome sequencing, ocular examination, fundus photography, and fundus fluorescein angiography. A 1-year-old girl presented due to absence of the foveal reflex, severe photophobia, and pigment mottling. Fundus photography and fundus fluorescein angiography were performed on admission. Blood samples were extracted from the proband and her parents. Whole exome sequencing detected two ATF6 variants (c.533C>A and c.82+1G>T), which were confirmed through Sanger sequencing. According to the American College of Medical Genetics guidelines, both c.533C>A and c.82+1G>T variants in ATF6 were predicted as pathogenic mutations (PVS1, PM2, PM3). The patient was diagnosed as having achromatopsia with pathogenicity of ATF6 variants (c.533C>A and c.82+1G>T). [J Pediatr Ophthalmol Strabismus. 2023;60(5):e65-e69.].

[Achromatopsia : Clinical aspects, diagnostics, genes, brain and quality of life]. / Achromatopsie : Klinik, Diagnostik, Gene, Gehirn und Lebensqualität.

Achromatopsia or rod monochromatism is a congenital autosomal recessive retinal dystrophy which leads to dysfunctional cones, with decreased visual acuity, extremely limited color vision, nystagmus and photophobia. Due to the initially normally appearing ocular morphology, the diagnosis is often delayed. With imaging procedures, e.g., fluorescence-autofluorescence (FAF) and optical coherence tomography (OCT), different morphological forms of achromatopsia can be discriminated that do not seem to have a differential effect on visual function. Crucial is the provision of specific edge filters. Mutations in six genes are known to cause achromatopsia. For the two most frequent genes, CNGA3 and CNGB3, gene addition therapies are currently being tested. Such future approaches should be applied before the manifestation of sensory-related amblyopia in the visual cortex. Accordingly, state of the art management of achromatopsia should provide a diagnosis in early childhood including genotyping.

An early onset cone dystrophy due to CEP290 mutation: a case report.

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.

Rapid measurement and machine learning classification of colour vision deficiency.

Colour vision deficiencies (CVDs) indicate potential genetic variations and can be important biomarkers of acquired impairment in many neuro-ophthalmic diseases. However, CVDs are typically measured with tests which possess high sensitivity for detecting the presence of a CVD but do not quantify its type or severity. In this study, we introduce Foraging Interactive D-prime (FInD), a novel computer-based, generalisable, rapid, self-administered vision assessment tool and apply it to colour vision testing. This signal detection theory-based adaptive paradigm computed test stimulus intensity from d-prime analysis. Stimuli were chromatic Gaussian blobs in dynamic luminance noise, and participants clicked on cells that contained chromatic blobs (detection) or blob pairs of differing colours (discrimination). Sensitivity and repeatability of FInD colour tasks were compared against the Hardy-Rand-Rittler and the Farnsworth-Munsell 100 hue tests in 19 colour-normal and 18 inherited colour-atypical, age-matched observers. Rayleigh colour match was also completed. Detection and discrimination thresholds were higher for atypical than for typical observers, with selective threshold elevations corresponding to unique CVD types. Classifications of CVD type and severity via unsupervised machine learning confirmed functional subtypes. FInD tasks reliably detect inherited CVDs, and may serve as valuable tools in basic and clinical colour vision science.

The VA-CAL Test Quantifies Improvement of Visual Acuity in Achromatopsia by Means of Short-Wave Cutoff Filter Glasses in Daily Living Conditions.

Purpose: To quantify visual performance of patients with achromatopsia at various contrast and luminance combinations typical for daily living conditions, in comparison to controls, and to measure beneficial effects of short-wavelength cutoff filter glasses used by patients with achromatopsia to reduce glare sensation. Methods: Best-corrected visual acuity (BCVA) was tested with Landolt rings using an automated device (VA-CAL test). The visual acuity space was assessed for each participant with and without filter glasses (transmission >550 nm) at 46 contrast-luminance combinations (18%-95%; 0-10,000 cd/m2). The BCVA differences between both conditions were calculated for each combination as absolute values and relative to individual standard BCVA. Results: Fourteen achromats (mean ± SD: 37.9 ± 17.6 years) and 14 normally sighted controls (mean ± SD: 25.2 ± 2.8 years) were included in the study. Without filter glasses, achromats' BCVA was best at 30 cd/m2 (mean ± SEM: 0.76 ± 0.046 logarithm of the minimum angle of resolution [logMAR], contrast = 89%) and worst at 10,000 cd/m2 (mean ± SEM: 1.41 ± 0.08 logMAR, contrast = 18%), a deterioration up to 0.6 logMAR due to increased luminance and decreased contrast. Filter glasses improved achromats' BCVA for almost all luminances by about 0.2 logMAR but lowered controls' BCVA by about 0.1 logMAR. Conclusions: The VA-CAL test provides numerical proof that short-wavelength cutoff filter glasses can help patients with achromatopsia in everyday life, avoiding the common situation of severe visual impairment at certain daily object contrasts and ambient luminances. Translational Relevance: The VA-CAL test discovers losses of spatial resolution in the visual acuity space not seen in standardized BCVA assessment. Filter glasses improve the patients' daily visual performance, rendering them a strongly recommended visual aid in achromatopsia.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) and of the unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 and CNGB3 alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the CNGA3 and CNGB3 genes. Patients' genotype and phenotype were retrospectively evaluated. The majority of CNGA3 variants were missense, and the most prevalent CNGB3 variant was c.1148delC (p.Thr383Ilefs*13), resulting in a frameshift and premature stop codon, which is compatible with previous publications in the literature. A novel variant c.1893T>A (p.Tyr631*) in the CNGB3 gene is reported for the first time in this study. A great variability in morphologic findings was observed in our patients, although no consistent correlation with age and disease stage in OCT foveal morphology was found. The better understanding of the genetic variants landscape in the Brazilian population will help in the diagnosis of this disease.

Effect of laser eye protection devices on color perception.

Laser eye protection (LEP) devices may alter how colors are perceived in visual displays. This study investigates changes in color perception experienced by color-normal observers while wearing LEPs. Color perception with and without LEPs was measured using clinical color tests: City University Color Assessment and Diagnosis, Konan Medical ColorDx CCT-HD, and Farnsworth-Munsell 100-Hue. All LEPs induced a shift in color perception. The level of change in color perception significantly varied across LEPs. Consideration should be made when designing color displays where LEP devices are worn.

Clinical analysis of the Konan-Waggoner D15 color vision test using the Surface-Pro display.

This work expands on our previous comparison of the Konan-Waggoner D15 (KW-D15) and Farnsworth D15 (F-D15). Sixty subjects with normal color vision and 68 subjects with a red-green color vision defect participated in the study. The KW-D15 had good agreement with the F-D15 for both pass/fail and classification across all failure criteria. The agreement was slightly better if subjects had to pass on 2/3 trials compared with just the first trial. The KW-D15 is an adequate substitute for the F-D15, with the caveat that the KW-D15 might be slightly easier to pass than the F-D15 for deutans.

Screening for mild anomalous trichromacy using the Ishihara plates test.

The Ishihara plates test is one of the most established and widely used means of identifying color vision deficiencies. However, literature examining the effectiveness of the Ishihara plates test has identified weaknesses, particularly when screening for milder anomalous trichromacy. We constructed a model of the chromatic signals expected to contribute to false negative readings by calculating, for particular anomalous trichromatic observers, the differences in chromaticity between the ground and pseudoisochromatic portions of plates. Predicted signals from five plates were compared for seven editions of the Ishihara plates test, for six observers with three severities of anomalous trichromacy, under eight illuminants. We found significant effects of variation in all of these factors other than edition on the predicted color signals available to read the plates. The impact of edition was tested behaviorally with 35 observers with color vision deficiency and 26 normal trichromats, which corroborated the minimal effect of edition predicted by the model. We found a significant negative relationship between predicted color signals for anomalous trichromats and behavioral false negative plate readings (ρ=-0.46, p=0.005 for deuteranomals, ρ=-0.42, p=0.01 for protanomals), suggesting that residual observer-specific color signals in portions of plates designed to be isochromatic may be contributing to false negative readings, and validating our modeling approach.

Cone contrast test-HD: sensitivity and specificity in red-green dichromacy and the impact of age.

We report normative cone contrast sensitivity values, right-left eye agreement, and sensitivity and specificity values for the cone contrast test-HD (CCT-HD). We included 100 phakic eyes with color vision normal (CVN) and 20 dichromatic eyes (10 with protanopia and 10 with deuteranopia). The CCT-HD was used to measure L, M, and S-CCT-HD scores, and the right and left eyes were evaluated for agreement using Lin's concordance correlation coefficient (CCC) and Bland-Altman analysis to investigate the sensitivity and specificity of the CCT-HD based on diagnosis with an anomaloscope device. All cone types were in moderate agreement with the CCC (L-cone: 0.92, 95% CI, 0.86-0.95; M-cone: 0.91, 95% CI, 0.84-0.94; S-cone: 0.93, 95% CI, 0.88-0.96), whereas the Bland-Altman plots showed that the majority of cases (L-cone: 94%; M-cone: 92%; S-cone: 92%) fell within the 95% limits of agreement and showed good agreement. The m e a n±s t a n d a r d error L, M, and S-CCT-HD scores for protanopia were 0.6±1.4, 74.7±2.7, and 94.6±2.4, respectively; for deuteranopia, these were 84.0±3.4, 40.8±3.3, and 93.0±5.8, respectively; and for age-matched CVN eyes (m e a n±s t a n d a r d deviation age, 53.1±5.8 years; age range, 45-64 years), these were 98.5±3.4, 94.8±3.8, and 92.3±3.4, respectively, with significant differences between the groups except for S-CCT-HD score (Bonferroni corrected α=0.0167, p<0.0167). The sensitivity and specificity of the CCT-HD were 100% for protan and deutan in diagnosing abnormal types in those aged 20 to 64 years; however, the specificity decreased to 65% for protan and 55% for deutan in those aged >65 years. The CCT-HD is comparable to the diagnostic performance of the anomaloscope in the 20-64-year-old age group. However, the results should be interpreted cautiously in those ≥65 years, as these patients are more susceptible to acquired color vision deficiencies due to yellowing of the crystalline lens and other factors.

Impact of color vision deficiency on the quality of life in a sample of Indian population: Application of the CVD-QoL tool.

Purpose: To investigate the quality of life (QoL) in a sample of color vision deficit (CVD) patients in India and how color vision deficiency affects them psychologically, economically, and in productivity related to their work and occupation. Methods: A descriptive and case-control study design using a questionnaire was conducted on N = 120 participants, of whom 60 were patients of CVD (52 male and eight female) who visited two eye facilities in Hyderabad between 2020 and 2021 and 60 were age-matched normal color vision participants who served as controls. We validated English-Telugu adapted version of CVD-QoL, developed by Barry et al. in 2017 (CB-QoL). The CVD-QoL consists of 27 Likert-scale items with factors (lifestyle, emotions, and work). Color vision was assessed using the Ishihara and Cambridge Mollen color vision tests. A six-point Likert scale was used, with lower scores indicating poor QoL (from 1 = severe issue to 6 = no problem). Results: The CVD-QoL questionnaire's reliability and internal consistency were measured, including Cronbach's α (α =0.70-0.90). There was no significance between the group in age (t = -1.2, P = 0.67) whereas the Ishihara colour vision test, scores showed a significant difference (t = 4.50, P < 0.001). The QoL scores showed a significant difference towards lifestyle, emotions and work (P = 0.001). The CVD group had a poorer QoL score than the normal color vision group odds ratio [OR] =0.31, 95% confidence interval [CI], (P = 0.002, CI = 0.14-0.65, Z = 3.0) . In this analysis, a low CI indicated that the OR was more precise. Conclusion: Color vision deficiency affects Indians' QoL, according to this study. The mean scores of lifestyle, emotions, and work were lower than the UK sample.Since CVD is underreported and possibly affects developing countries more, advocacy for a new health care plan on CVD is essential. Increasing public understanding and awareness could also help diagnosing the CVD population.

A diagnostic model based on color vision examination for dysthyroid optic neuropathy using Hardy-Rand-Rittler color plates.

PURPOSE: To investigate color vision deficiency and the value of Hardy-Rand-Rittler (HRR) color plates in monitoring dysthyroid optic neuropathy (DON) to improve the diagnosis of DON. METHODS: The participants were divided into DON and non-DON (mild and moderate-to-severe) groups. All the subjects underwent HRR color examination and comprehensive ophthalmic examinations. The random forest and decision tree models based on the HRR score were constructed by R software. The ROC curve and accuracy of different models in diagnosing DON were calculated and compared. RESULTS: Thirty DON patients (57 eyes) and sixty non-DON patients (120 eyes) were enrolled. The HRR score was lower in DON patients than in non-DON patients (12.1 ± 6.2 versus 18.7 ± 1.8, p < 0.001). The major color deficiency was red-green deficiency in DON using HRR test. The HRR score, CAS, RNFL, and AP100 were found to be important factors in predicting DON from random forest and selected by decision tree to construct the multifactor model. The sensitivity, specificity, and the area under the curve (AUC) of the HRR score were 86%, 72%, and 0.87, respectively. The HRR score decision tree had a sensitivity, specificity, and AUC of 93%, 57%, and 0.75, respectively, with an accuracy of 82%. The data of the multifactor decision tree were 90%, 89%, and 0.93 for sensitivity, specificity, and AUC, respectively, with an accuracy of 91%. CONCLUSION: The HRR test was valid as screening method for DON. The multifactor decision tree based on the HRR test improved the diagnostic efficacy for DON. An HRR score of less than 12 and red-green deficiency may be characteristic of DON.

A Comparison Between Three Computer-Based Cone Specific Color Vision Tests.

INTRODUCTION: Computerized color contrast sensitivity (CS) tests that aim to determine presence, type, and severity of color vision deficiency have been developed and are available, but data on agreement between tests is lacking. The purpose of the present study was to determine data agreement between three computerized color vision tests.METHODS: A total of 50 subjects, 25 color vision normal (CVN) and 25 color vision deficient (CVD), were tested with the Konan CCT-HD®, NCI, and a modified version of the Innova CCT. Sensitivity and specificity were compared across systems as well as differences in log CS values and how these relate to standards used to classify occupational performance.RESULTS: Each test showed 100% sensitivity for detection of hereditary red-green CVDs as well as type (protan vs. deutan). Each test showed 100% specificity for confirming normal red-green color vision in CVNs. Innova CCT and NCI showed 100% specificity in CVNs and CVDs for S cone CS. Konan CCT-HD® showed 96% specificity in CVNs and 92% in CVDs for S cone CS.DISCUSSION: These findings indicate that each test reliably identifies hereditary CVD and confirms normal color vision. However, the three tests differ slightly in log CS values used to determine pass/fail scores of red-green color vision using a 100-point scale, and all show that protans consistently score lower than deutans on cone CS. Hence, depending on the criterion used in occupational settings, a single score may not prove equitable for individuals who have a protan deficiency.Lovell J, Rabin J. A comparison between three computer-based cone specific color vision tests. Aerosp Med Hum Perform. 2023; 94(2):54-58.

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy due to mutations in the OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed color vision. We studied BCM color vision to determine outcome measures for future clinical trials. Methods: Patients with BCM and normal-vision participants were examined with Farnsworth-Munsell (FM) arrangement tests and the Color Assessment and Diagnosis (CAD) test. A retrospective case series in 36 patients with BCM (ages 6-70) was performed with the FM D-15 test. A subset of six patients also had Roth-28 Hue and CAD tests. Results: All patients with BCM had abnormal results for D-15, Roth-28, and CAD tests. With D-15, there was protan-deutan confusion and no bimodal tendency. Roth-28 results reinforced that finding. There was symmetry in color vision metrics between the two eyes and coherence between sessions with the arrangement tests and CAD. Severe abnormalities in red-green sensitivity with CAD were expected. Unexpected were different levels of yellow-blue results with two patterns of abnormal thresholds: moderate elevation in two younger patients and severe elevation in four patients ≥35 years. Coefficients of repeatability and intersession means were tabulated for all test modalities. Conclusions: Given understanding of advantages, disadvantages, and complexities of interpretation of results, both an arrangement test and CAD should be useful monitors of color vision through a clinical trial in BCM. Translational Relevance: Our pilot studies in BCM of arrangement and CAD tests indicated both were clinically feasible and interpretable in the context of this cone gene disease.

Colour perception deficits after posterior stroke: Not so rare after all?

Cerebral achromatopsia is an acquired colour perception impairment caused by brain injury, and is generally considered to be rare. Both hemispheres are thought to contribute to colour perception, but most published cases have had bilateral or right hemisphere lesions. In contrast to congenital colour blindness that affects the discrimination between specific hues, cerebral achromatopsia is often described as affecting perception across all colours. Most studies of cerebral achromatopsia have been single cases or case series of patients with colour perception deficits. Here, we explore colour perception deficits in an unbiased sample of patients with stroke affecting the posterior cerebral artery (N = 63) from the Back of the Brain project. Patients were selected based on lesion location only, and not on the presence of a given symptom. All patients were tested with the Farnsworth D-15 Dichotomous Colour Blindness Test and performance compared to matched controls (N = 45) using single case statistics. In patients with abnormal performance, the patterns of colour difficulties were qualitatively analysed. 22% of the patients showed significant problems with colour discrimination (44% of patients with bilateral lesions, 28% with left hemisphere lesions and 5% with right hemisphere lesions). Lesion analyses identified two regions in ventral occipital temporal areas in the left hemisphere as particularly strongly related to impaired performance in colour perception, but also indicated that bilateral lesions are more strongly associated with impaired performance that unilateral lesions. While some patients only had mild deficits, colour perception impairments were in many cases severe. Many patients had selective deficits only affecting the perception of some hues. The results suggest that colour perception difficulties following PCA stroke are common, and that they vary in severity and expression. In addition, the results point towards bilateral processing of colour perception with a left hemispheric domination, contradicting previous reports.