Survival in Patients with Uveal Melanoma Is Linked to Genetic Variation at HERC2 Single Nucleotide Polymorphism rs12913832.

PURPOSE: Uveal melanoma (UM) is a rare disease, with the highest incidence in people with fair skin and light eyes. Eye color is largely genetically determined and is defined by a set of single nucleotide polymorphisms (SNPs). We set out to determine whether we could identify a SNP related to prognosis. DESIGN: We sequenced DNA from peripheral blood mononuclear cells of 392 patients with UM and obtained the genotype of 6 common eye color-related SNPs. Clinical and histopathologic tumor characteristics, tumor chromosome status, and patient survival were compared among patients with different genotypes. PARTICIPANTS: Three hundred ninety-two patients who underwent enucleation for UM at the Leiden University Medical Center, Leiden, The Netherlands. METHODS: We isolated DNA from peripheral blood leukocytes of 392 patients with UM and performed sequencing, using 6 eye color SNPs from the HIrisPlex-S assay (Erasmus MC, Walsh lab). The genotypes extracted from the sequencing data were uploaded onto the HIrisPlexwebtool (https://hirisplex.erasmusmc.nl/) for eye color prediction. We tested the association of eye color SNPs with tumor characteristics and chromosome aberrations using Pearson's chi-square test and the Mann-Whitney U test and evaluated survival with Kaplan-Meier curves with the log-rank test and Cox regression. MAIN OUTCOME MEASURES: Uveal melanoma-related survival. RESULTS: Of 392 patients with analyzable genotype data, 307 patients (78%) were assigned blue eyes, 74 patients (19%) were assigned brown eyes, and 11 patients (3%) could not be assigned to either blue or brown. Patients with a genetically blue eye color showed worse survival (P = 0.04). This was related to 1 genotype: patients with the G/G genotype of rs12913832 (HERC2), which codes for blue eye color showed a worse prognosis (P = 0.017) and more often had high-risk tumors (monosomy of chromosome 3; P = 0.04) than in patients with an A/G or A/A genotype. CONCLUSIONS: The G/G genotype of rs12913832 (HERC2), which is related to blue eye color, not only is a genetic factor related to the risk of UM develop, but also is linked to a worse prognosis because of an association with a higher risk of a high-risk UM developing (carrying monosomy of chromosome 3). FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Expression and Mutation of SLC45A2 Affects Iris Color in Quail.

Iris color is a prominent phenotypic feature of quail. To understand the mechanism of melanin deposition related to quail iris color, iris tissues were selected from Beijing white and Chinese yellow quail for transcriptome analysis. Differentially expressed genes (DEGs) associated with pigmentation were identified using RNA sequencing and validated by quantitative real-time polymerase chain reaction (RT-qPCR). The identified single nucleotide polymorphisms were studied using bioinformatics and iris color correlation analyses. A total of 485 DEGs were obtained, with 223 upregulated and 262 downregulated. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were performed. Thirty-two genes were annotated using the GO database. Three important pigment synthesis pathways (Notch signaling, melanogenesis, and tyrosine metabolism) were identified in quail iris tissue (P < 0.05). The expression levels of solute carrier family 45 member 2 (SLC45A2), tyrosinase-related protein 1, vitamin D receptor, opsin 5, and docking protein 5 were significantly different between Beijing white and Chinese yellow quail, as verified by RT-qPCR. The c.1061C>T mutation in SLC45A2, which caused a single amino acid change at position 354 (threonine to methionine), was significantly associated with iris color in Beijing white and Chinese yellow quail, and might be the main reason for the different iris colors between these two quail species.

Iris color and day-night changes in the sympathovagal ratio.

Iris melanocytes are innervated by parasympathetic and sympathetic nerve endings. Light affects autonomic nervous system activity via the retino-hypothalamic pathway. The hypothesis that the day-to-night variations in the sympatovagal ratio (LF/HF) may differ among individuals with different brown iris patterns was tested. A total of 621 healthy adults, aged between 16 and 50, with brown eyes and not diagnosed with a disease that might affect the autonomous nerve system were included in the study. A digital camera was used to acquire iris photos. Subjects were grouped into iris color groups (2-0 bg, 1-0 bg, 1-1 db, 1-1 lb, 2-0 b, and 1-0 b). Iris photos were analyzed with Picture Color Analyzer RBG software. The Central/Peripheral (R/RGB) ratio was used for objective distinction between the groups. Using 24-h Holter ECG monitoring, the change in the sympathovagal ratio from day (between 07:00 and 23:00 h) to night (between 23:00 and 07:00 h) was determined with the formula [(Day-Night) LF/HF)/Day LF/HF]. The frequency of subjects with a decrease in the LF/HF ratio from day to night was the highest in the 1-1 db group (65.7%), followed by the 1-1 lb group (56.4%). The highest increase was in the 2-0 bg group (76.5%), followed by the 1-0 B group (68.9%) (p < 0.001). Based on the findings of this study, iris color may be a predictive factor in diseases in which the circadian change of autonomic nervous system activity is effective.

Photosensitivity and self-induction in patients aged 50 and older.

OBJECTIVE: Photosensitivity is known to occur predominantly in children and adolescents and with a clear female predominance. Little is known on the prevalence of photosensitivity in older patients (50+) and its phenotypical appearance. METHODS: A retrospective observational study was performed investigating the prevalence of a photoparoxysmal EEG response (PPR) on at least one EEG during the period 2015-2021. Data were gathered from patients aged 50 years and older by retrieving clinical and EEG characteristics from existing medical records. Data on photosensitivity-related symptoms in daily life were gathered with telephone interviewing. RESULTS: In 248 patients a PPR had been elicited, of whom 16 patients (6.5%) were 50 years or older. In older patients, photosensitivity was a persistent feature of childhood-onset epilepsy (n = 8), of adult-onset epilepsy (n = 7), or an incidental finding (n = 1). In the 50+ group, 56% of photosensitive patients was female, whereas 72% in the total PPR-group. In six of 16 older patients, eye closure sensitivity was observed; two of these patients reported self-induction. Symptoms of photosensitivity in daily life were present in eight out of nine patients who consented in a telephone interview. For seven of these patients, wearing sunglasses was helpful. SIGNIFICANCE: Female preponderance for photosensitivity was not found in epilepsy patients of 50 years and older. In 44% of the older photosensitive patients in this series, the PPR was a feature of adult-onset epilepsy. Symptoms of photosensitivity in daily life in older patients with epilepsy seem comparable to those in younger patients, and thus worthwhile to diagnose and treat them equally.

Correlation of fitzpatrick skin type and iris color with tumor size in 823 patients with uveal melanoma.

PURPOSE: To determine the correlation of Fitzpatrick Skin Type (FST) and iris color with tumor size (tumor thickness and basal diameter) in patients with uveal melanoma. DESIGN: Retrospective Cohort METHODS: Retrospective cohort from a single ocular oncology center of 823 patients with uveal melanoma and documented FST, iris color, and tumor size. Patients were classified by FST (type I, II, and III-V) and iris color (blue, green, and brown) on the basis of external facial photography. There were no FST type VI patients. Tumor thickness was classified into small [< 3 millimeter (mm)], medium (3.1-8.0 mm), or large (> 8.0 mm), and basal diameter into small (< 10 mm), medium (10.1-15 mm) or large (> 15 mm). The correlation of FST and iris color with tumor thickness and basal diameter was evaluated using the Kruskal-Wallis H test. RESULTS: The FST classification was type I (n = 92, 11%), type II (n = 643, 78%), or III-V (n = 88, 11%), and iris color was blue (n = 472, 57%), green (n = 102, 12%), or brown (n = 249, 30%). A comparison of FST revealed differences in mean tumor thickness (P = 0.04) and basal diameter (P = 0.006). Iris color showed no difference for mean tumor thickness (P = 0.41) or basal diameter (P = 0.48). There was a statistically significant difference with brown iris color relative to FST III-V for mean tumor thickness (P = 0.003) and basal diameter (P = 0.001) but no difference with blue or green iris color (P > 0.05). CONCLUSIONS: Iris color alone showed no difference in tumor size, but those with brown iris color and FST type III-V demonstrated larger tumor thickness and basal diameter.

Impact of iris color on uveal melanoma-related outcomes in 7245 patients at a single ocular oncology center.

PURPOSE: To determine the relationship between iris color and uveal melanoma (UM)-related metastasis and death in a large cohort of patients from a single ocular oncology center. DESIGN: Retrospective case series. SUBJECTS: Patients diagnosed with UM between February 1971 and August 2007. METHODS: Patient information was obtained from chart documentation. MAIN OUTCOME MEASURES: UM-related metastasis and death. RESULTS: Out of 7245 patients, iris color was blue in 3702 (51%), green in 1458 (20%), and brown in 2085 (29%). Mean age was 58 ± 15 years and mean tumor thickness was 5.5 ± 3.3 millimeters. Some clinical features differed between iris color groups, with the blue irides group having a larger proportion of post-equatorial tumors with significantly closer proximity to the foveola and optic disc compared to the brown irides group. At a mean follow-up of 75 months, there was no statistically significant difference in metastasis between the various iris color groups. On univariate analysis, those with blue irides showed a higher incidence of UM-related death compared to the green and brown irides groups (8.3%, 5.9% and 7.5% respectively, p value = 0.02). Kaplan-Meier event free survival from UM-related death significantly differed only between the blue and green irides groups (p value = 0.007) with the green irides group showing the highest survival. However, on multivariate analysis, iris color was not predictive of UM-related death. CONCLUSION: Iris color was not predictive of UM-related metastasis or death. However, Kaplan-Meier survival at 20 years was poorest for blue irides group compared to green.

RNA sequencing analysis reveals that missense mutation in SOX10 is associated with iris color phenotype in quail.

To investigate the molecular mechanisms underlying the differences in iris color in quail, the transcriptome of iris tissue from black quail and Korean quail at day 10 of hatching was RNA sequenced in this study. The differentially expressed genes (DEGs) were screened, functionally annotated and enriched after the quality control and mapping of the raw data. RT-qPCR validation was performed using EIF2S3 as an internal reference gene. The screened SNPs were studied by bioinformatics analysis and iris color correlation analysis. The results showed that there were 425 upregulated genes and 364 downregulated genes in 789 DEGs. Gene Ontology (GO) enrichment analysis revealed that 139 DEGs were significantly enriched in 154 GO terms. The Kyoto Encyclopedia of Genes and Genomes enrichment results showed that the Notch signaling pathway, melanogenesis and tyrosine metabolism were associated with pigment synthesis (p < 0.05). The expression levels of the ASIP, MLPH, PMEL, TYR and SOX10 genes were significantly different in black quail iris and Korean quail iris, as verified by RT-qPCR. The SOX10 gene c.324G>C mutation, which caused the replacement of p.Glu108Asp, had a highly significant correlation with iris color in black quail and Korean quail, which may be one of the reasons for different in iris color between these two quail species.

Iris color as a predictive factor for intraoperative floppy iris syndrome.

PURPOSE: To assess the influence of iris color on the predisposition for intraoperative floppy iris syndrome (IFIS) during cataract surgery. METHODS: Medical records of patients who underwent cataract surgery in two medical centers between July 2019 and February 2020 were reviewed. Patients younger than 50 years, with preexisting ocular conditions affecting pupillary size or anterior chamber depth (ACD), and combined procedures were excluded. The remaining patients were questioned via telephone regarding their iris color. The association of IFIS occurrence and severity with iris color was tested using univariant and multivariant analyses. RESULTS: Overall, 155 eyes of 155 patients were included, 74 with documented IFIS and 81 without. The mean age was 74.03 ± 7.09 years, and 35.5% were female. The most common iris color among study eyes was brown (110/155, 70.97%), followed by blue (25/155, 16.13%) and green (20/155, 12.90%). Compared to brown-colored eyes, blue irises exhibited a 4.50-fold risk for IFIS (OR = 4.50, 95% CI: 1.73-11.70, p = 0.002), and green irises 7.00-fold risk (OR = 7.00, 95% CI: 2.19-22.39, p = 0.001). After adjusting for possible confounders, the results remained statistically significant (p < 0.01). Light-colored irises tended to exhibit a more severe IFIS compared to the brown iris group (p < 0.001). IFIS bilaterality was also affected by iris color (p < 0.001), with a 10.43-fold risk for fellow eye IFIS in the green iris group compared to eyes with brown irises (OR = 10.43, 95% CI: 3.35-32.54, p < 0.001). CONCLUSIONS: Light iris color was associated with a significantly increased risk of IFIS occurrence, severity, and bilaterality on univariate and multivariate analysis in this study.

Global-Local Facial Fusion Based GAN Generated Fake Face Detection.

Media content forgery is widely spread over the Internet and has raised severe societal concerns. With the development of deep learning, new technologies such as generative adversarial networks (GANs) and media forgery technology have already been utilized for politicians and celebrity forgery, which has a terrible impact on society. Existing GAN-generated face detection approaches rely on detecting image artifacts and the generated traces. However, these methods are model-specific, and the performance is deteriorated when faced with more complicated methods. What's more, it is challenging to identify forgery images with perturbations such as JPEG compression, gamma correction, and other disturbances. In this paper, we propose a global-local facial fusion network, namely GLFNet, to fully exploit the local physiological and global receptive features. Specifically, GLFNet consists of two branches, i.e., the local region detection branch and the global detection branch. The former branch detects the forged traces from the facial parts, such as the iris and pupils. The latter branch adopts a residual connection to distinguish real images from fake ones. GLFNet obtains forged traces through various ways by combining physiological characteristics with deep learning. The method is stable with physiological properties when learning the deep learning features. As a result, it is more robust than the single-class detection methods. Experimental results on two benchmarks have demonstrated superiority and generalization compared with other methods.

Blue-Light Filtering Intraocular Implants and Darker Irises Reduce the Behavioral Effects of Higher-Order Ocular Aberrations.

PURPOSE: Higher order ocular aberrations (e.g. entopic scatter) arising from cornea and lens, decreases retinal image contrast by dispersing part of the image-forming optics over a broad retinal surface. Selective filtering of the light that is most susceptible to aberration (high-energy "blue" light) may reduce some of the behavioral effects. This was tested by comparing the performance of a blue-light filtering (BLF) vs a clear intraocular lens implant (IOL). METHODS: 52 participants with IOL (BLF: AlconSN60AT; clear: AlconSA60AT; N = 98 test eyes; M = 67.33 ± 7.48 years; 58.8% Female; 25.5% non-White) were recruited. Our outcome measure was based on the minimum resolvable distance between two points of light (two-point thresholds), formed using broadband xenon or isolated short-wave energy (425 nm). Iris color was measured by visual inspection and comparison against standard images. RESULTS: In the broadband condition, patients with BLF IOL had smaller two-point thresholds (M = 17.17 ± 5.71 mm; F[1,48] = 2.60; p = 0.045) than clear controls (M = 20.93 ± 10.22 mm). Similar improvements were found in the short-wave condition (MBLF=17.02 ± 5.30; Mclear=21.42 ± 10.99; p = 0.04). In the contralateral broadband comparison, eyes with the BLF had significantly smaller two-point thresholds (M = 18.10 ± 10.47 mm; t = -2.90, p < 0.001) than the clear IOL (M = 20.89 ± 10.61 mm). Similar effects were seen in the short-wave condition (MBLF=18.23 ± 9.88; Mclear = 21.06 ± 10.47; p = 0.001). Darker iris color was related to reduced scatter across IOL types, in both shortwave (F[2,48] = 4.62, p = 0.02) and broadband (F[2,48] = 5.27, p = 0.009) conditions. CONCLUSIONS: Anterior screening, be it by a darker iris or a BLF IOL, is directly related to decreases in two-point light thresholds.

Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color.

PURPOSE: Individuals with gray, blue, or green eyes have a higher chance of developing uveal melanoma (UM) than those with brown eyes. We wondered whether iris pigmentation might be related not only to predisposition to UM but also to its behavior; therefore, we compared the clinical, histopathologic, and genetic characteristics of UM between eyes with different colors. DESIGN: We determined iris color in a large cohort of patients enucleated for UM. Clinical and histopathologic tumor characteristics, chromosome status, and survival were compared among 3 groups on the basis of iris color. PARTICIPANTS: A total of 412 patients with choroidal/ciliary body UM, who had undergone primary enucleation at the Leiden University Medical Center, Leiden, The Netherlands, between 1993 and 2019, were divided into 3 groups based on iris color: gray/blue, green/hazel, and brown. The validation cohort included 934 patients with choroidal/ciliary body UM treated at Wills Eye Hospital (WEH). METHODS: Comparison of clinical, histopathologic, and genetic characteristics of UM in patients with different iris colors. MAIN OUTCOME MEASURES: Melanoma-related survival in UM patients, divided over 3 iris color groups, in relation to the tumor's chromosome 3 and 8q status. RESULTS: Moderate and heavy tumor pigmentations were especially seen in eyes with a brown iris (P < 0.001). Survival did not differ between patients with different iris colors (P = 0.27); however, in patients with a light iris, copy number changes in chromosome 3 and 8q had a greater influence on survival than in patients with a dark iris. Likewise, chromosome 3 and chromosome 8q status affected survival more among patients with lightly pigmented tumors than in patients with heavily pigmented tumors. The WEH cohort similarly showed a greater influence of chromosome aberrations in light-eyed individuals. CONCLUSIONS: Although iris color by itself did not relate to UM-related survival, chromosome 3 and 8q aberrations had a larger influence on survival in patients with a light iris than those with a brown iris. This suggests a synergistic effect of iris pigmentation and chromosome status in the regulation of oncogenic behavior of UM. Iris color should be taken into consideration when calculating a patient's risk for developing metastases.

Validation of the Relationship Between Iris Color and Uveal Melanoma Using Artificial Intelligence With Multiple Paths in a Large Chinese Population.

Previous studies have shown that light iris color is a predisposing factor for the development of uveal melanoma (UM) in a population of Caucasian ancestry. However, in all these studies, a remarkably low percentage of patients have brown eyes, so we applied deep learning methods to investigate the correlation between iris color and the prevalence of UM in the Chinese population. All anterior segment photos were automatically segmented with U-NET, and only the iris regions were retained. Then the iris was analyzed with machine learning methods (random forests and convolutional neural networks) to obtain the corresponding iris color spectra (classification probability). We obtained satisfactory segmentation results with high consistency with those from experts. The iris color spectrum is consistent with the raters' view, but there is no significant correlation with UM incidence.

Two Genomic Loci Control Three Eye Colors in the Domestic Pigeon (Columba livia).

The iris of the eye shows striking color variation across vertebrate species, and may play important roles in crypsis and communication. The domestic pigeon (Columba livia) has three common iris colors, orange, pearl (white), and bull (dark brown), segregating in a single species, thereby providing a unique opportunity to identify the genetic basis of iris coloration. We used comparative genomics and genetic mapping in laboratory crosses to identify two candidate genes that control variation in iris color in domestic pigeons. We identified a nonsense mutation in the solute carrier SLC2A11B that is shared among all pigeons with pearl eye color, and a locus associated with bull eye color that includes EDNRB2, a gene involved in neural crest migration and pigment development. However, bull eye is likely controlled by a heterogeneous collection of alleles across pigeon breeds. We also found that the EDNRB2 region is associated with regionalized plumage depigmentation (piebalding). Our study identifies two candidate genes for eye colors variation, and establishes a genetic link between iris and plumage color, two traits that vary widely in the evolution of birds and other vertebrates.

Sclera and Iris Color Interact to Influence Gaze Perception.

The white sclera is important in facilitating gaze perception in humans. Iris color may likewise influence gaze perception but no previous studies have directly assessed its effect. We therefore examined how the interaction between sclera and iris color influences human gaze perception. We recorded the eye movements of human participants as they performed a visual search task with human faces exhibiting directed or averted gaze. The faces either exhibited light or dark irises. In addition, the faces had sclera that were depigmented (white) or pigmented (matched the color of the iris). We found that participants were quick and accurate in evaluating gaze regardless of iris color in faces with depigmented sclera. When the sclera were pigmented, participants were slower to evaluate the gaze of faces with both light and dark irises but these effects were most pronounced in the faces with dark irises. Furthermore, participants were generally less accurate in assessing faces with pigmented sclera when the irises were dark rather than light. Our results suggest that depigmented sclera are especially important for gaze perception in faces with dark irises. Because depigmented sclera likely evolved at a time when ancestral humans exhibited dark irises, the depigmented sclera may have been crucial for efficient and accurate gaze perception in ancestral humans.

Efficacy of topical rocuronium bromide as a mydriatic agent in domestic pigeons (Columba livia).

This study was conducted to investigate the efficacy of rocuronium bromide as mydriatic agent in domestic pigeons (Columba livia). This study was done in two phases. In the first phase, rocuronium bromide (0.20 mg/20 µl) was topically instilled to the right eye (OD) of eight domestic pigeons. Pupil diameter was measured before instillation (T0), and at 5 (T05) and 10 (T10) min after instillation, and every 10 min thereafter until 160 (T160) min. Pupillary light reflex (PLR) was assessed using a scoring system at the same time points. In the second phase, the same dosage was instilled twice in the span of 10 min into both eyes (OU) of four pigeons (eight eyes). Measurements were done accordingly. The iris color in the first phase were: gravel, pearl and bull eye. All irises in the second phase were bull eye. Mydriasis were observed in 6/8 (75%) pigeons in the first phase. Maximal mydriasis was observed at T30 (mean pupil diameter=4.62 ± 0.13 mm). Pupil diameter in the treated eye was significantly different from contralateral eye and from T0 since T05 (P=0.017 and P=0.006, respectively)-T120 (P=0.043 and P=0.044, respectively). PLR was disappeared from T10 (P=0.034) to T90 (P=0.041). In the second phase, mydriasis was only observed in 2/8 eyes. This study suggested that rocuronium bromide was able to produce mydriasis in pigeons other than bull eye iris.

Molecular and biochemical mechanisms of human iris color: A comprehensive review.

Eye color is determined as a polymorphism and polygenic trait. Brown is the most common eye color in the world, accounting for about 79%, blue eye color for about 8-10%, hazel for 5%, and green for 2%. Rare-colored eyes include gray and red/violet. Different factors are involved in determining eye color. The two most important factors are the iris pigment and the way light is scattered from the iris. Gene expression determines the iris pigmentation and how much melanin is present in the eye, which is the number of melanin subunits that identify eye color. The genes involved in the pigmentation of single-nucleotide polymorphism (SNP) have a significant role; and even some genes are included only in the eye color through SNP. MicroRNAs also affect melanocyte synthesis, which is usually affected by the downregulation of essential genes involved in pigmentation. In this study, we assess the biochemical pathways of melanin synthesis, and the role of each gene in this pathway also has been examined in the signaling pathway that stimulates melanin synthesis.

Pressure dependent direct transtissue transmission of eyewall, sclera and vitreous body in the range of 350-1050nm.

PURPOSE: For transscleral application of optical radiation or light to the eye, it is important to know the transmission and absorbance of the tissue layers of the eyewall. The impact of photochemical energy to the retina located directly at the point of contact with the radiation emitter must be considered as well as the absorbance in choroid and retina. Therefore, the direct transmission of ex vivo porcine eyewalls and vitreous body were measured in this study. METHODS: At ex vivo porcine eyes (N=221) pressure dependent transmission measurements were performed with a pressure inducing setup. Pressure and wavelength dependent direct transmission of eyewall and vitreous body of porcine eyes were described for different applied pressures (23mmHg, 78mmHg and 132mmHg). The transmissions were investigated within the spectral range of 350-1050nm. In addition to the complete eyewall transmission measurements, the transmission of sclera, vitreous body and water was measured individually and the transmission of retina and choroid was calculated. RESULTS: With increasing wavelength and pressure, a significant transmission increase of the eyewall could be achieved (p<0.05). At 400nm and 132mmHg the transmission raised to 0.10%. At 1050nm it increased up to a value of 12.22%. In the visible spectrum, the direct transmission was always below 3.17%. The differences in eyewall transmission of eyes with different iris colors were significant at low pressure. With increasing pressure, the effect strength decreased and the differences lost their significance. CONCLUSIONS: The pressure and wavelength dependent direct transmission of the eyewall and the vitreous body significantly increased with increasing pressure. This results are benefical for technical and clinical safety, research and development of illumination devices. It is necessary to know the intraocular brightness in the eye during diaphanoscopy, photocoagulation application to determine hazards.

[Bilateral explantation of iris implants due to pigment dispersion syndrome (PDS) and corneal decompensation after cosmetic iris implantation (BrightOcular)]. / Bilaterale Irisimplantatexplantation bei Pigmentdispersionssyndrom (PDS) und Hornhautdekompensation nach kosmetischer Irisimplantation (BrightOcular).

This article reports the case of a 27-year-old female patient with pigment dispersion syndrome (PDS) and corneal edema in both eyes after cosmetic iris implantation (BrightOcular, Anaheim, CA, USA) in an Indian eye clinic in order to change the eye color. Explantation of the implants was recommended 3 years after implantation and after developing PDS due to the high risk of developing glaucoma and because of corneal decompensation due to loss of corneal endothelial tissue. Postoperatively, traumatic, middle wide and irregular pupils were present.

Distribution of iris color and its association with ocular diseases in a rural population of Iran.

PURPOSE: To determine the distribution of iris color and its relationship with some ocular diseases in a rural population of Iran. METHODS: Two rural areas of the north and southwest of Iran were selected by a cross-sectional study using multi-stage cluster sampling. After selecting samples, the participants had an eye examination including measuring visual acuity, refraction, and Pentacam imaging. Then an eye examination for individuals was performed by slit-lamp. RESULTS: Out of 3851 invited people, 3314 participated in this study (participation rate, 86.05%). Dark brown [41.28%, confidence interval (CI) 95% = 31.88-50.68] and blue (0.99%, CI 95% = 0.57-1.41) were the most and the least type of iris colors among participants of this study. Compared to others, people with a dark iris have the biggest anterior chamber depth (ACD), angle and volume while central corneal thickness (CCT), keratometry and pupil were highest among people with a dark brown iris (P < 0.002). Considering the dark brown group as a base group, the chances of being afflicted to cataract among people with dark, light brown, green, and blue irises are 1.89 (CI 95% = 1.25-2.86), 1.53 (CI 95% = 1.17-2.01), 4.60 (CI 95% = 2.17-9.71), and 12.17 (CI 95% = 5.05-29.31), respectively. The chance of being afflicted to myopia among people with green irises and to hyperopia among people with blue irises were high (1.60, CI 95% = 1.08-2.36 and 3.20, CI 95% = 1.03-9.97, respectively). CONCLUSIONS: Dark brown was the most prevalent iris color in rural areas of Iran. The index of cornea among people with dark and dark brown iris color is higher than other people, and people with light iris color are at a higher risk of developing eye disease such as cataract, corneal opacity, and refractive error. To determine this relationship and its usage for therapeutic and public health purposes, further studies are recommended.

A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry.

South Asia has a complex history of migrations and is characterized by substantial pigmentary and genetic diversity. For this reason, it is an ideal region to study the genetic architecture of normal pigmentation variation. Here, we present a meta-analysis of two genome-wide association studies (GWASs) of skin pigmentation using skin reflectance (M-index) as a quantitative phenotype. The meta-analysis includes a sample of individuals of South Asian descent living in Canada (N = 348), and a sample of individuals from two caste and four tribal groups from West Maharashtra, India (N = 480). We also present the first GWAS of iris color in South Asian populations. This GWAS was based on quantitative measures of iris color obtained from high-resolution iris pictures. We identified genome-wide significant associations of variants within the well-known gene SLC24A5, including the nonsynonymous rs1426654 polymorphism, with both skin pigmentation and iris color, highlighting the pleiotropic effects of this gene on pigmentation. Variants in the HERC2 gene (e.g., rs12913832) were also associated with iris color and iris heterochromia. Our study emphasizes the usefulness of quantitative methods to study iris color variation. We also identified novel genome-wide significant associations with skin pigmentation and iris color, but we could not replicate these associations due to the lack of independent samples. It will be critical to expand the number of studies in South Asian populations in order to better understand the genetic variation driving the diversity of skin pigmentation and iris color observed in this region.