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Background: Persons whose identifying DNA profile (STR profile) is not yet known to the ingvestigating authorities cannot be identified by standard forensic DNA analysis (STR profiling) as it is now practiced. In view of the current public debate, particularly in Germany, on the legalization of so-called forensic DNA phenotyping, we present its scientific basis, societal aspects, and forensic applications and describe the analytic techniques that are now available. Methods: This review is based on pertinent publications that were retrieved by a selective search in PubMed and in public media, and on the authors' own research. Results: Forensically validated DNA test systems are available for the categorization of eye, hair, and skin color and the inference of continental biogeographic ancestry. As for statistical measures of test accuracy, the AUC (area under the curve) values lie in the range 0.74-0.99 for eye color, 0.64-0.94 for hair color, and 0.72-0.99 for skin color, depending on the predictive model and color category used.The corresponding positive predictive values (PPV) are lower. Empirical social-scientific research on forensic DNA phenotyping has shown that preserving privacy and protecting against discrimination are major ethical and regulatory considerations. Conclusion: All three methods of forensic DNA phenotyping--the predition of externally visible characteristics, biogeographic ancestry, and the estimation of age from crime scene DNA--require a proper regulatory framework and should be used in conjunction with each other. Before forensic DNA phenotyping can be implemented in forensic practice, steps must be taken to minimize the risks of violation of privacy and of ethnic discrimination and to ensure that these methods are used transparently and proportionately. [ABSTRACT FROM AUTHOR]

In this article the author explores the work of researcher Ernst Caspari, the first researcher to use developmental genetics. According to the author, Caspari had been working with larval moth tissue, noting that a substance responsible for developing eye pigmentation was lacking a mutant larva. However, Caspari was unable to complete his work after being dismissed from the Nazi Germany government.

Objectives: To study corneal haze following myopic photorefractive keratectomy (PRK) in a high-risk population and to assess methods for minimizing the risk., Methods: The medical records of 150 patients who underwent PRK were reviewed. A total of 300 eyes were included. All patients underwent myopic PRK using the Allegretto Wave Concerto 500Hz (Wavelight AG, Erlangen, Germany)excimer laser platform with intraoperative mitomycin-C (MMC) application. Demographic data including age, gender and ethnicity in addition to preoperative and postoperative subjective manifest refraction, spherical equivalent, best-corrected distance visual acuity, uncorrected distance visual acuity (UDVA), postoperative corneal haze grade and other possible postoperative complications were retrieved. Hanna grading (0-4+) was used to evaluate corneal haze., Results: The patients were comprised of 74 men (49.3%) and 76 women (50.7%). The mean age at the time of surgery was 26.5±6.0 (range, 17-46) years. All patients were Saudis with brown irides. UDVA improved to 20/25 in 93.8% at 3 months. The mean and standard deviation of preoperative spherical equivalent was -3.02±1.63 (range, -7.63 - -0.13). At 3 months, postoperative spherical equivalent improved to 0.05±0.50 (-1.00 - +1.00). At 6 months, 13.6% exhibited corneal haze of grade 1, and none exhibited grades 2 or 3., Conclusions: The results of this study confirmed that patients with brown irides can achieve favorable outcomes after PRK. MMC, postoperative topical steroids and ultraviolet protection evidently play a major role in preventing corneal haze in high-risk populations., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Objective: A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (SBE) typing. The SNPs chosen for the study allow to determine the hair colors and eye colors of humans., Material and Methods: The DNA samples were extracted from the skeletal remains of 59 human individuals dating back to the Late Bronze Age. The 3,000 years old bones had been discovered in the Lichtenstein Cave in Lower Saxony, Germany. The simultaneous typing of 24 SNPs for each of the ancient DNA samples was carried out using the 192.24 Dynamic Array™ by Fluidigm®., Results: Thirty-eight of the ancient samples (=64%) revealed full and reproducible SNP genotypes allowing hair and eye color phenotyping. In 10 samples (=17%) at least half of the SNPs were unambiguously determined, in 11 samples (=19%) the SNP typing failed. For 23 of the 59 individuals, a comparison of the SNP typing results with genotypes from an earlier performed SBE typing approach was possible. The comparison confirmed the full concordance of the results for 90% of the SNP typings. In the remaining 10% allelic dropouts were identified., Discussion: The high genotyping success rate could be achieved by introducing modifications to the preamplification protocol mainly by increasing the DNA input and the amplification cycle number. The occurrence of allelic dropouts indicates that a further increase of DNA input to the preamplification step is desirable., (© 2020 The Authors. American Journal of Physical Anthropology published by Wiley Periodicals, Inc.)

Background: In an effort to alter eye color during World War II, devout Nazi researcher Karin Magnussen had adrenaline eye drops administered to inmates at the concentration camp Auschwitz-Birkenau. A Sinti family, with a high prevalence of heterochromia iridis, was forced to participate in this study. Members of this family, as well as other victims, were later killed and had their eyes enucleated and sent to Magnussen for examination. Magnussen articulated the findings of these events in a manuscript that has never been published. The author is the first ophthalmologist to review this manuscript. The generation who experienced the atrocities of World War II will soon be gone and awareness of what happened during this tragic chapter of world history is fading., Objectives: To describe these events to raise awareness among future generations., Methods: A literature review and archival search was conducted., Results: Magnussen's research was based on an animal study published in 1937. For Magnussen's study, adrenaline drops were administered to inmates, including a 12-year-old girl from the Sinti family. As there was a reported case of deaf-mutism within the family, Waardenburg syndrome seems to be the most plausible explanation for this family's heritable heterochromia., Conclusions: The effort to change eye color was doomed to fail from the beginning because there was a probable diagnosis of Waardenburg syndrome. Extinction of humans for ophthalmological research is an insane act beyond imagination. For the sake of these victims, and for the generations who still feel their pain, it is imperative to tell their stories.

In most studies, nurses with a migrant background report experiences of interpersonal discrimination. These often occur in interaction with those in need of care. However, in Germany this topic has remained largely unexplored, although a large proportion of the employees in geriatric care have a migration background. The aim of the study was to investigate whether care workers with Turkish migration background in in-patient geriatric care are exposed to discrimination from residents. Furthermore, the reasons for discrimination, handling of discrimination and recommendations for in-patient geriatric facilities to avoid/reduce discrimination were examined. In a qualitative, explorative study, 24 employees with Turkish migrant background working in in-patient geriatric care were interviewed in 2017. The semi-structured interviews were evaluated using a qualitative content analysis according to Mayring. The majority (N = 20) experienced or observed discrimination. This occurred mainly in the form of xenophobic insults and rejections. They perceived visible traits (dark hair and eye color, clothing) as potential reasons. To deal with the discrimination, most of them temporarily left the scene. They recommend that institutions should primarily make the diversity of the workforce transparent to avoid/reduce discrimination. More research is needed about discrimination against care workers with migration background because discrimination may have serious psychological effects that impact employee retention and the quality of care., Competing Interests: The authors declare no conflict of interest.

Abstract: The prediction of externally visible characteristics like hair, skin and eye colour from biological material of an individual becomes more and more important in forensic genetics particularly in cases in which a standard tandem repeat (STR) profiling failed. Liu et al. and Walsh et al. recently published a multiplex SNaPshot assay, named IrisPlex. The IrisPlex assay was described as a sensitive tool for accurate prediction of blue and brown eye colour. In our present study we evaluated the IrisPlex eye colour prediction tool in 102 individuals of a German population sample as well as in 81 individuals from Turkey, East Asia and Africa. The applicability of the IrisPlex was verified in a case study with highly degraded DNA of an exhumed skeleton. The IrisPlex prediction probabilities revealed a blue eye colour for the unknown person and a probable European descent. The IrisPlex works reliable and the prediction results are plausible. Due to its easy handling and robust design the IrisPlex is capable to be implemented in the forensic case work to provide first information of an unknown person for which no phenotypic information is available. [Copyright &y& Elsevier]

Background: To examine the all-cause mortality and uveal melanoma specific mortality among newly diagnosed uveal melanoma patients after five years. Furthermore, we assess of the effect of iris colour and having children on 5-year risk of death after diagnosis of uveal melanoma. Therefore, we assess the performance of an individual prediction model of survival from uveal melanoma., Methods: A cohort of 459 patients aged 45 to 79 years with newly diagnosed uveal melanoma was recruited between 2002 and 2004 from the Division of Ophthalmology, University of Essen, Germany. Survival probabilities were estimated by Kaplan-Meier survival analysis. The clinical and histopathological characteristics were obtained from medical records. Iris colour and childbearing history were assessed at baseline by a computer-assisted telephone interview. We used crude and multivariable Cox proportional hazards regression to estimate unadjusted and adjusted hazard ratios (HR) and corresponding 95% confidence intervals (95%CIs) with respect to death from uveal melanoma and death from all causes. We used the Cox model to estimate adjusted probabilities of primary events. For computing Harrell's C statistics, we used a Cox model including the prognostics factors gender, age at diagnosis, ciliary body involvement, largest basal tumour diameter, and iris colour., Results: The 5-year uveal melanoma-specific survival probability was 82.9% (95% CI: 79.1-86.3). Main prognostic factors for the death of uveal melanoma were ciliary body involvement (HR: 1.7 (95% CI:1.0-2.8)), largest basal tumour diameter >15 mm HR: 7.0 (95% CI: 3.5-13.9), light iris colour (HR: 2.3 (95% CI: 0.9-5.8), having children (HR: 0.6 (95% CI: 0.2 - 1.7)), and gender (HR: 0.7 (95% CI: 0.4-1.1)). The value of the bootstrap-corrected C statistics was 0.76 (95% CI: 0.74-0.77)., Conclusion: Beyond the established prognostic factors, light iris colour also appears to be a prognostic factor for death from uveal melanoma.

Purpose: To examine the association among phenotypic characteristics, chronic and intermittent ultraviolet (UV) radiation, and the risk of uveal melanoma., Design: Case-control study., Participants: Overall, between September of 2002 and March of 2005, 1677 eligible subjects (age range: 20-74 years, living in Germany) participated. Interviews were conducted with 459 incident uveal melanoma cases (response proportion 94%), 827 population controls (55%), 180 ophthalmologist controls (52%), and 187 sibling controls (57%)., Methods: Data on phenotypic characteristics and chronic and intermittent UV radiation exposure were obtained from a self-administered postal questionnaire and computer-assisted telephone interview. We used conditional logistic regression to estimate odds ratios adjusting for the matching factors. Furthermore, we studied the presence of synergy (super additive of risk or relative excess risk due to interaction) between light iris color and several UV radiation exposures., Main Outcome Measures: Hair color at age 20 years, eye color, untanned skin color, ability to tan, propensity to burn on exposure, freckling, occupational sun exposure, artificial UV radiation, burns to the eyes., Results: In all 3 control groups, fair skin color, freckling as a child, nevi on the upper arms, burns to the eyes, use of sunlamps, and ever worked outside for 4 or more hours per day were positively associated with uveal melanoma. The association with eye color was apparent only in population controls (odds ratio = 1.9; 95% confidence interval [CI], 1.4-5.2), resulting in a relative excess risk due to interaction of 0.9 (95% CI, -0.6-2.3) for light iris color and more than 5 eye burns (UV-related keratitis) and 0.6 (95% CI, -0.3 to 1.5) for light iris color and eye protection., Conclusions: Our interaction analyses suggest that there is an etiologic synergism between light iris color and the exposure of UV radiation. People with light iris color may have an especially increased risk for uveal melanoma if they are exposed to UV radiation., Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Background: Cisplatin is commonly used as a chemotherapeutic agent in the treatment of solid tumors. Ototoxicity is an important side-effect. Melanin in the inner ear either plays an otoprotective role or has a negative influence on hearing. The concentration of cochlear melanin correlates with its concentration in the iris., Patients and Methods: We retrospectively examined 65 children (37 males, 28 females, average age 7.5 years) treated with cisplatin at the University Clinic of Muenster, Germany. We checked whether their eye color could be inferred from the prevalence and extent of cisplatin-induced hearing loss., Results: We found a hearing loss of >20 dB in 29 light-eyed and in 21 dark-eyed patients. Seven light-eyed and eight dark-eyed patients did not suffer from hearing impairment. Using the chi(2)-test on these four parameters, we found no significant connection between iris pigmentation and the prevalence or extent of hearing loss, although light-eyed children (80.6%) suffered more from hearing loss than dark-eyed children (72.4%). After the end of therapy with cisplatin, the prevalence of hearing loss was 83.3% in children up to 6 years and 71.4% in children older than 6 years. The average cumulative dose of cisplatin was 372 mg/m(2) of body surface in children with hearing loss, compared to 390 mg/m(2) in children without hearing loss., Conclusion: We found no significant correlation between iris pigmentation (eye color) and hearing loss. Cisplatin-induced hearing loss occurs frequently and requires repeated monitoring.

Background/purpose: Sensitivity to ultraviolet (UV) light is associated with phenotypic variables like iris or hair colour or freckling, which are all strongly inter-related. We assessed the pattern of association among these factors to construct a summary measure reflecting constitutional UV sensitivity in a simple one-dimensional score with sufficient discriminating power., Methods: Information on iris and hair colour (3 and 4 categories, respectively), freckling (none vs. any) and the reaction to mid-day summer sunlight as an outcome (dichotomized into 'burn' and 'tan') was collected in a cross-sectional study among children at school enrollment in 1999 and 2000 in Göttingen, Germany (n=3765 with complete data). Chi-squared automatic interaction detector (CHAID) analysis and log-linear modelling was used to assess the pattern of mutual inter-relations., Results: Hair colour turned out to be the factor most strongly associated with UV sensitivity. In case of blonde or brown hair (the most common phenotypes in our sample), the consideration of freckling further refined the classification system, whereas iris colour did not contribute additional information. The results of the CHAID and log-linear analyses suggest a simple five-point score capturing constitutional UV sensitivity. The discriminating power of this score was high in our sample, with the proportion of persons who burned ranging from 7.7 (lowest category) to 73% (highest category)., Conclusion: The new scoring system summarized efficiently relevant information on individual constitutional UV sensitivity in our sample. Its further validation in independent studies comprising Caucasian children or adults is necessary to assess objectively its properties for future applications.

Purpose: To investigate potential risk factors of uveal melanoma, including phenotypical characteristics, eye burns, social class, smoking and alcohol consumption., Methods: A hospital-based and population-based case-control study of uveal melanoma was carried out from 1995 through 1998 and the results pooled. A total of 118 patients (59 men and 59 women) with uveal melanoma and 475 controls matching on sex, age and study regions were interviewed. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (95% CI)., Results: There was an elevated risk for blue or grey iris color (OR = 3.0, 95% CI 1.5-6.0). Red or blond hair color at age 20 was slightly associated with an increased risk for uveal melanoma (OR = 1.5, 95% CI 0.9-2.4). There was no elevated risk for a history of eye burns (OR = 1.1, 95% CI 0.5-2.4)., Conclusions: Among the potential risk factors studied, only the phenotypical characteristics showed an association with the risk of uveal melanoma.