Brown Irides Research Articles

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

PurposeTo determine the correlation of Fitzpatrick Skin Type (FST) and iris color with tumor size (tumor thickness and basal diameter) in patients with uveal melanoma. DesignRetrospective Cohort MethodsRetrospective 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. ResultsThe 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). ConclusionsIris 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.

Iris colour distribution and its relation with Refractive Errors in Gilgit-Baltistan

Background: The study’s goal is to assess the iris colour distribution and its relation with refractive errors.&#x0D; Objective(s): The main purpose of this study is to find out the assessment of iris colour distribution and its relation with refractive errors in Gilgit Baltistan.&#x0D; Methodology: In this cross-sectional study, 214 individuals of age range from 15 to 35 were selected from Gilgit Baltistan through the process of random sampling. Myopia, hyperopia and astigmatism were included in this study. The iris colour was classified into 5 groups I.e. light brown, dark brown, green, grey and blue. All individuals were examined for visual acuity, objective and subjective refraction. &#x0D; Results: Out of the 214 selected individuals 159 (74.3%) individuals were myopic, 21 (9.8%) individuals were hyperopic and 34 (15.9%) were astigmatic. Light brown 135 (63.1%) was the most common iris colour in myopic individuals 114(84.4%) followed by dark brown 38(17.8%) in myopic individual 32 (84.2%), individuals with green 22(10.3%) had myopia 10 (45.5%), iris colour grey 10 (4.7%), blue 9 (4.2%) were least common iris colour in astigmatic individuals 6 (60.0%) and 8 (88.9%) respectively.&#x0D; Conclusion(s): Individual with light and dark brown iris colour are at higher risk of myopia. Individuals with grey and blue iris colour have more chances to develop astigmatism

The association between iris color and refractive errors in children

This study aimed to evaluate the association between iris color and refractive errors in children aged 6–12 years. This cross-sectional study was based on data obtained from the first phase of the Shahroud Schoolchildren Eye Cohort Study. The target population was 6 to12 year-old students living in urban and rural areas. Iris colors were classified by comparing eye colors with close-up images of iris colors. Myopia was defined as a spherical equivalent (SE) ≤ − 0.5 diopter and hyperopia was defined as SE ≥ 2 diopter in cycloplegic refraction. The association of iris color with hyperopia and myopia was investigated by fitting two separate multiple logistic regression models adjusted for place of residence, age, sex, and times for outdoor activity and near work. Among the 5394 participates with the mean age of 9.7 year, the prevalence of myopia and hyperopia was 4.8% and 4.7% respectively. The number and proportion (in parentheses) of amber, light blue, light brown, dark brown, gray, green and hazel iris colors were 19(0.4%), 26(0.5%), 645(12.0%), 4517(83.7%), 4(0.1%), 59(1.1%), and 124(2.3%) respectively. Compared to dark brown, the odds ratios and 95% confidence intervals (in parentheses) of myopia were 4.8(1.2–18.7), 0.8(0.1–5.8), 1.0(0.7–1.5), 0.4(0.1–2.7) and 0.6(0.2–1.8) for amber, light blue, light brown, green and hazel iris colors in multiple logistic regression model. No significant association was observed between iris colors and hyperopia. This study shows that amber iris is significantly associated with higher odds of myopia. These children should be further monitored and examined. More studies with higher sample size in all iris colors are recommended.

Application of a 24-SNP Multiplex Genotyping Assay System for Phenotypic Identification of Fujian Han Population.

This study aimed to evaluate the utility of 24 single nucleotide polymorphism (SNP) loci associated with iris color and hair color in phenotypic identification of the Han Chinese population in Fujian Province. The selected SNPs, known for their strong correlation with specific human phenotypic features, provide valuable reference data for developing a molecular phenotypic identification system. A multiplex genotyping assay system was established with primers for the 24 SNPs linked to iris color and hair color synthesized based on existing literature. In total, 235 unrelated individuals of Han Chinese ethnicity in Fujian Province were included in this study. PowerStats v12 was employed to calculate forensic parameters associated with the 24 SNP loci, including gene frequencies, genotype frequencies, minor allele frequencies, discrimination power (DP), polymorphism information content (PIC), and observed heterozygosity (Ho). Hardy-Weinberg equilibrium tests were conducted for each locus. The SNP genotyping results were uploaded to the HIrisPlex model (https://HIrisPlex.erasmusmc.nl/) to predict iris and hair colors, and the inferred results were compared with manually assessed images. The accuracy of pigment phenotype inference was evaluated by using ROC curves in SPSS 26.0 software. The accuracy rates of inferring brown iris and black hair phenotypes were 99.6% and 99.5%. The area under the curve (AUC) values were 0.923 and 0.980, respectively. The 24 SNP loci demonstrated high accuracy in inferring iris color and hair color; it seems to be a useful tool for forensic phenotypic identification and anthropological or evolutionary applications. Establishment of suitable pigment classification criteria and optimized prediction models is based on revealing more phenotypic genetic markers.

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

PurposeTo 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. DesignRetrospective case series. SubjectsPatients diagnosed with UM between February 1971 and August 2007. MethodsPatient information was obtained from chart documentation. Main outcome measuresUM-related metastasis and death. ResultsOut 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. ConclusionIris 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.

Utilizing 3D Printing Technology to Create Prosthetic Irises: Proof of Concept and Workflow.

There are currently limited treatment options for aniridia. In this context, 3D printed iris implants may provide a cost-effective, cosmetically acceptable alternative for patients with aniridia. The purpose of this study was to develop a proof-of-concept workflow for manufacturing 3D printed iris implants using a silicone ink palette that aesthetically matches iris shades, identified in slit lamp images. Slit lamp iris photos from 11 healthy volunteers (3 green; 4 blue; 4 brown) were processed using k-means binning analyses to identify two or three prominent colors each. Candidate silicone inks were created by precisely combining pigments. A crowdsourcing survey software was used to determine color matches between the silicone ink swatches and three prominent iris color swatches in 2 qualifying and 11 experimental workflows. In total, 54 candidate silicone inks (20 brown; 16 green; 18 blue) were developed and analyzed. Survey answers from 29 individuals that had passed the qualifying workflow were invited to identify "best matches" between the prominent iris colors and the silicone inks. From this color-match data, brown, blue, and green prototype artificial irises were printed with the silicone ink that aesthetically matched the three prominent colors. The iris was printed using a simplified three-layer five-branch starburst design at scale (12.8 mm base disc, with 3.5 mm pupil). This proof-of-concept workflow produced color-matched silicone prosthetic irises at scale from a panel of silicone inks using prominent iris colors extracted from slit lamp images. Future work will include printing a more intricate iris crypt design and testing for biocompatibility.

Worldwide Incidence of Ocular Melanoma and Correlation With Pigmentation-Related Risk Factors.

The worldwide incidence of ocular melanoma (OM), uveal melanoma (UM), and conjunctival melanoma has last been reported on 15years ago. Recently, light iris color and four specific single-nucleotide-polymorphisms (SNPs) have been identified as a UM-risk factor. Furthermore, six iris color predicting SNPs have been discovered (IrisPlex). Interestingly, two of these (rs129138329 and rs12203592) are also UM-risk factors. We collected worldwide incidence data of OM and investigated its correlations with iris color, IrisPlex SNPs, and UM-risk SNPs. Cases of OM, as defined by the International Classification of Diseases Oncology C69 (eye), 8720/3 to 8790/3 (malignant melanoma), and 8000 to 8005 (malignant neoplasm), between 1988 and 2012, were extracted from the Cancer Incidence in Five Continents. Incidence rates were age-standardized and their trends were analyzed with joinpoint regression and age period cohort modeling. Frequencies for each country of iris color, IrisPlex SNPs, and UM-risk SNPs were collected from the literature. Incidence rates were generally ≥8.0 cases per million person-years in Northern Europe, Western Europe, and Oceania; 2.0 to 7.9 in North America, Eastern Europe, and Southern Europe; and <2.0 in South America, Asia, and Africa. OM incidence correlated with latitude (r = 0.77, P ≤ 0.001) and is expressed as a north-to-south decreasing gradient in Europe. SNP rs12913832 correlated with OM incidence (r = 0.83, P ≤ 0.001), blue iris color (r = 0.56, P ≤ 0.05), green iris color (r = 0.51, P ≤ 0.05), and brown iris color (r = -0.64, P ≤ 0.01). Trends were stable for most countries (28/35). OM incidence is highest in populations of European ancestry and lowest in populations of Asian and African ancestry. Overall, trends are stable, and the spatial correlation among OM incidence, iris color, and rs12913832 may support the role of pigmentation-related risk factors in OM development.

Tropicamide Versus Cyclopentolate for Cycloplegic Refraction in Pediatric Patients With Brown Irides: A Randomized Clinical Trial

To compare the final cycloplegic refraction of tropicamide 1% and cyclopentolate 1% in children 3-16 years of age with brown irides. Randomized, controlled, multicenter prospective clinical trial. Included patients were randomized to either cyclopentolate 1% or tropicamide 1% in the first visit with autorefraction measurements. Each subject underwent a second cycloplegic refraction using the other agent on a separate visit with a minimum of 1-week interval and a maximum of 12 weeks. We measured the change in SE (ΔSE) for each eye by deducting the SE before cycloplegia from the SE after cycloplegia. A total of 185 eyes from 94 children aged 3-16 years (average= 8.79 ±3.11 years) were included. The average SE of both eyes before cycloplegia was -0.082 ± 4.8 diopters. The SE after instillation of cyclopentolate and tropicamide in both eyes was 1.07±5.2 and 0.96±5.1, respectively (P value < .001). The average ΔSE after cycloplegia was 1.15±1.2 for cyclopentolate and 1.04±1.2 for tropicamide (P value < .001). The difference between ΔSE of cyclopentolate and tropicamide was found statistically significant at 0.11±1.2 (P < .001), although clinically insignificant. The ΔSE between the 2 drops before and after cycloplegia in both eyes for all refractive error groups was clinically insignificant. The greatest effect of cyclopentolate and tropicamide was in hyperopic eyes with ΔSE of 1.54±1.4 and 1.39±1.4, respectively. Tropicamide might be an effective and safe replacement for cyclopentolate in the refracting nonstrabismic pediatric population 3-16 years of age regardless of their refractive error status.

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

To assess the influence of iris color on the predisposition for intraoperative floppy iris syndrome (IFIS) during cataract surgery. Medical records of patients who underwent cataract surgery in two medical centers between July 2019 and February 2020 were reviewed. Patients younger than 50years, 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. Overall, 155 eyes of 155 patients were included, 74 with documented IFIS and 81 without. The mean age was 74.03 ± 7.09years, 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). Light iris color was associated with a significantly increased risk of IFIS occurrence, severity, and bilaterality on univariate and multivariate analysis in this study.

Эффективность циклофотокоагуляции в микроимпульсном режиме у пациентов с развитой и далеко зашедшей стадией первичной открытоугольной глаукомы

Purpose. To evaluate clinical efficacy and safety of micropulse cyclophotocoagulation (MP-CPC) in treatment patients with advanced and severe stages of primary open-angle glaucoma (POAG). Material and methods. Clinical study was carried out in 74 patients (74 eyes) with POAG aged 49 to 82 years. The advanced stage of glaucoma was detected in 35 eyes, the severe stage - in 39 eyes. The intraocular pressure (IOP) level before surgery varied from 23 to 36 mm Hg, averaging 29,6 ± 2,5 mm Hg. All patients underwent MP-CPC to standard technique using the Cyclo G6 Glaucoma Laser System the MicroPulse P3 glaucoma device (IRIDEX, USA). The observation period was 6 months. Results. All surgeries went without complications. The average IOP level on the 1st day after surgery was 21,1 ± 1,3 mm Hg. On the 1st day after surgery the more pronounced IOP decrease was revealed in patients with a dark (brown) iris color in comparison with a light (blue) iris. It was found that in periods to 6 months, the hypotensive effect of the surgery was more pronounced in patients of the age group under 60 years in comparison with the age group over 71 years. During the 1 year follow-up period, the IOP level was within normal values in 64 eyes (87%), averaging 20.9±1.2 mm Hg. Conclusion. MP-CPC is effective and safe operation to normalize IOP in most patients with advanced and severe stage of POAG with a follow-up period of 1 year. Keywords: micropulse cyclophotocoagulation, primary open-angle glaucoma, mild stage, moderate stage, intraocular pressure

Colour stability during production of printed ocular prostheses

AbstractOcular prostheses have been used for centuries to restore patient confidence, psychosocial relationships and to improve quality of life. Methodology for producing accurate prostheses has improved with technological discoveries. Recently, hand painting ocular prostheses has been the go‐to method for creating life like prostheses. However, digital printing a print to envelope around an acrylic prosthesis has been shown to decrease treatment and rehabilitation times, whilst still producing high‐definition ocular prostheses. Despite these improvements, little is known about the colour stability of digitally printed ocular prostheses. To better understand the colour stability of digital prostheses 30 samples simulating ocular prostheses were created, containing 10 with blue iris, 10 combination/green iris and 10 with sepia (brown) irises. Colour measurements were taken using a data spectrophotometer, from two defined points, the iris and sclera for both pre‐polymerisation and post‐polymerisation to assess colour variance. Colour coordinate data was gathered and was analysed using a one‐way analysis of variance test and a paired t‐test, both with alpha = 0.05. Significant colour variations were found for each iris colour and for the sclera. The sclera showed the largest colour variation with a ΔE of 4.75, followed by the brown irises, the green irises and then blue irises with ΔE values of 3.29, 2.47 and 1.82, respectively. This is a significant decrease compared to current hand painting methods which have an average colour variance of ΔE = 20. This shows a large increase in colour stability which can drastically improve patient satisfaction and quality of life.

Effect of Topical Pilocarpine Instilled Before Laser Peripheral Iridotomy on Regional Iris Thickness in Primary Angle Closure Disease: A Swept-Source Anterior Segment Optical Coherence Tomography Pilot Study

ABSTRACT Purpose To determine whether the temporal-superior or the nasal-superior iris area becomes thinner (more optimal) for laser peripheral iridotomy (LPI) after pilocarpine instillation in primary angle closure disease (PACD); and to identify an angle for optimal penetration of the laser beam. Patients and Methods Iris thickness at 2 mm from the iris root in the preset scanning axes was measured using swept-source anterior segment optical coherence tomography before and 60 minutes after the instillation of pilocarpine 2% in one eye of 30 consecutive Japanese PACD patients with thick, dark brown iris. Iris thickness at 1:30 and 10:30 clock hour positions were evaluated in sagittal and oblique directions, resulting sagittal iris thickness (SIT) and minimum iris thickness (MIT) parameters, respectively. Results Compared to the baseline values, iris thickness decreased significantly (P < .001) in both locations after pilocarpine instillation. Both before and after pilocarpine instillation the temporal-superior iris thickness was significantly smaller than the nasal-superior thickness (P ≤ .001). After pilocarpine instillation, the temporal-superior iris was significantly thinner in an approximately 13° angle direction temporal to the sagittal direction than in the sagittal direction (MIT: 0.322 mm; SIT: 0.346 mm, P < .001). Conclusions After pilocarpine instillation, the temporal-superior iris and an approximately 13° angle temporal to the sagittal direction may provide an optimal location and laser beam angle for LPI in PACD eyes.

Uganda chicken genetic resources: I. phenotypic and production characteristics.

The extent of diversity in the indigenous chicken breeds of Uganda was assessed for their potential utilisation in breeding programmes. A total of 293 indigenous-chicken-keeping households in villages across 35 districts forming 12 sub-regions of the four regions were randomly sampled for 586 mature chickens of both sexes. While only 20.8% of households were headed by women, 40.6% of indigenous chicken keepers were women. The production objectives mainly focused on chickens as sources of income from sales and household food. The chickens were predominantly managed in a scavenging (94.2%) feeding system in a mainly (96.9%) mixed crop-livestock system. The average flock size was 19.80 ± 1.21 chickens with 3.83 ± 0.29 laying hens, each producing an average of 13.41 ± 0.20 eggs/clutch and 40.3 ± 0.6 eggs/annum of 5.20 ± 0.03-month egg production age. Normal-feather strains predominated (>90%), with scattered incidences of naked neck, frizzles, polydactyl, and ptilopody traits in both sexes. Dark (49.0% hen; 43.8% cock) and white (38.3% hen; 42.4% cock) skin colours were most common among the chickens compared to yellow skin. However, yellow-coloured shanks were proportionally the most observed (41% cock; 29% hen). Orange and brown iris (eye) colours were the most common in both sexes. The hens commonly had small round earlobes with varying colours, while cocks had large oval-shaped, mainly red (70%) earlobes. The single-comb type was dominant in both sexes, with wattles almost universally present. Frizzle and polydactyl allele frequencies were significantly lower (p < 0.05) than the expected Mendelian proportions, indicating a possible state of endangerment. Meanwhile, the estimated allele frequencies of ptilopody, tufted-crest, and rose comb alleles in the population were similar (p > 0.05) to the expected Mendelian frequencies. However, these strains did not show any significant (p > 0.05) influence on the body weight or the linear morphometric estimates except for being marginally higher than the normal strains. The phenotypic correlations of body weight and morphometric traits ranged from 0.457 to 0.668 and 0.292 to 0.454 in cocks and hens, respectively. These findings provide hints about the prospects for improved performance with modifications in the production environment. The wide phenotypic diversity would support management efforts for their sustainable utilisation and preservation.

Sculpting Time: Sara Rudner in Her Studio

Sculpting Time: Sara Rudner in Her Studio

Iris Heterochromia and Choroidal Hypopigmentation in Waardenburg Syndrome

A 10-year-old Black boy was referred for possible retinal hemorrhages. His visual acuity was 20/20 in both eyes. Examination revealed complete iris heterochromia, with one blue iris and one brown iris (Fig A). Fundus examination demonstrated diffuse areas of choroidal hypopigmentation (Fig B-C), notably also in the eye with normal iris pigment. OCT showed a loss of choroidal reflectivity in areas of hypopigmentation (Fig D). The patient did not have a white forelock or hearing loss, but had facial features of telecanthus and a wide nasal root, consistent with a diagnosis of Waardenburg syndrome (Magnified version of Fig A-D is available online at www.aaojournal.org).

THE TWO SINGLE NUCLEOTIDE POLYMORPHISM HAPLOTYPES ON CHROMOSOME 15 OF THE HERC2 AND OCA2 GENES OF THE COLOR VARIATION OF THE HUMAN EYE IN A SAMPLE OF IRAQI POPULATION

This study was aimed to identify the role of the single nucleotide polymorphism genes on the contrast of three groups (Dark-Brown, hazel and blue) of human eye color among a sample of Iraqi people specifically single nucleotide polymorphism (SNPs); the rs12913832 of HERC2 gene and the rs1800407 of OCA2 gene, for 90 human blood samples of different people were collected from College of Science, University of Baghdad and also people from different areas of Baghdad, Iraq. These SNPs were analyzed using quantitative real-time PCR (qPCR). The results of the rs12913832 and rs1800407 genotype showed significant differences (p &lt;0.05) in the blue eye color groups. the rs12913832 of HERC2; rs1800407 of the OCA2 genotypes and allele frequencies in contrast to the dark brown and blue iris group showed that there was significant variation in the heterozygous genotype frequencies, while these SNPs in contrast to the dark brown and hazel iris group showed a non-significant effect in a sample of Iraqi population. The haplotype statistical analysis shows strongly Linkage disequilibrium (LD) between the rs12913832 of HERC2 gene and the rs1800407 of OCA2 gene in dark-brown, hazel and blue eye color subjects.

Time for effective cycloplegia in patients with brown iris

ABSTRACT We aimed to evaluate the time needed for effective cycloplegia after instillation of cyclopentolate 1% in patients with brown irides. A prospective analytical study involving 161 patients (322 eyes) with a mean (SD) age of 9.0 (3.1) years (range: 3-16 years), who attended outpatient eye clinic. All had brown irides, cyclopentolate 1% was instilled two times, 10 minutes apart, spherical equivalent (SE) was calculated using readings taken by Nidek AR-1000 autorefractometer before the first drop and at 15, 30, 45 and 60 minutes after the first drop. The time for effective cycloplegia was determined from the time point at which the 95% confidence interval of the differences between the average spherical equivalent (SE) at each point and its final value at 60 minutes was reached and remained within ±0.25 D. We found that maximum cycloplegia was reached 30 minutes after the instillation of first drop of cyclopentolate 1% in all refractive error categories (emmetropia, hyperopia and myopia) with the exception of high hyperopia subgroup (SE ≥ +6.0D) where at least 45 minutes were needed to achieve cycloplegia. Additionally no clinically significant difference in the minimum time required to achieve maximum cycloplegia was noticed in subjects under 10 years old and those aged 10 years or older with both groups needed at least 30 minutes to achieve maximum cycloplegia after the instillation of first drop of cyclopentolate 1%. In this group of patients with brown irides, most children reached maximum cycloplegia after 30 minutes of instillation of cyclopentolate 1% eye drops.

Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology

A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally. The W-index was 2.38 which was an indication of Type 1 Waardenburg syndrome (WS) with dilated fundus evaluation revealing pigmentary deficit in the retina depicting a orangish hue. The corneal diameter was 9 mm in both eyes. Both the external auditory meatus and external ears appeared normal. The parents who had a history of second-degree consanguineous marriage had visual acuity of 20/20 with normal dark brown irides and normal fundi. Genetic counseling, visual rehabilitation, and auditory evaluation to rule out sensory neural hearing loss were stressed upon for good quality of life, which is mandatory among neonates diagnosed with van der Hoeve-Halbertsma-Waardenburg syndrome.

A NEW SPECIES OF OSTEOCEPHALUS STEINDACHNER, 1862 (ANURA, HYLIDAE), FROM BRAZILIAN AMAZONIA

Treefrogs of the genus Osteocephalus have been the focus of several taxonomic and phylogenetic studies, especially in the last two decades. These recent studies have shown that the diversity of this charismatic Amazonian genus is still largely underestimated. Through the evidence of morphological and molecular data, we describe a new species of the Osteocephalus alboguttatus species group from the Purus-Madeira Interfluve, southwestern Brazilian Amazonia. The new species differs from other Osteocephalus by having a small body size (snout–vent length 32.1–44.1 mm), skin texture non-sexually dimorphic, dorsum smooth with a few scattered small tubercles, vocal sac single and subgular, frontoparietal ridges not externally visible, and a dark tan brown iris with lighter vermiculation. The rapid increase in the number of new frog species described from the Purus-Madeira Interfluve highlight the importance of sampling poorly explored and remote areas in Amazonia, as well as the value of supporting taxonomic research to accelerate species documentation in face of the biodiversity crisis.

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

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. 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. 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). Comparison of clinical, histopathologic, and genetic characteristics of UM in patients with different iris colors. Melanoma-related survival in UM patients, divided over 3 iris color groups, in relation to the tumor's chromosome 3 and 8q status. 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. 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.