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Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub‐Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. OCA2 variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in TYR, two in OCA2). A deep intronic variant was found to alter splicing of the OCA2 RNA by inclusion of a pseudo exon. Of note, the OCA2 exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub‐Saharan country. [ABSTRACT FROM AUTHOR]

Names and labels attributed to persons with albinism (PWA) in East, Central, and West Africa, reflect deeply rooted cultural beliefs, superstitions, and etiological and historical narratives. In these regions, the identity of the black PWA differs by his/her black/white duality – Black but not black, white but not White. Using Labelling and Symbolic Interactionism frameworks, we address three questions: (i) How are PWA named and labelled across East, Central, and West Africa? (ii) How can we categorise the predominant names and labels? (iii) How do these names and labels reflect socio-cultural conceptions, affect behaviour towards PWA, and contribute to the external construction of the identity of PWA? Principal categories emerge: supernatural affiliation, pigmentation, association with economic capital, vegetal and earth affiliations, zoosemic metaphors, and ambiguous/undetermined labels. These categories reflect cultural sentiments ranging from adulation to ostracisation, influencing social behaviour and identity construction. While some cultures regard PWA as celestial entities, others link them to curses or tragedy. Labels that commodify PWA render them targets for exploitation and violence, while vegetal, zoosemic, and ambiguous terminology contribute to alienation and identity crisis. This research demonstrates how cultural constructs of identity through language reinforce stigma and prejudice against PWA, worsening their social marginalisation. [ABSTRACT FROM AUTHOR]

Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in HPS1, HPS6, and BLOC1S6 genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases. [ABSTRACT FROM AUTHOR]

This is a formal case report for the albinism in Olivierus martensii (Karsch, 1879). Albino phenotype is compared with its normal counterpart in terms of their morphology and behavior by cursory experiments. The examined 7 albino individuals (5 of which were adults) were smaller and more slender than their normal counterparts. However, these quantitative differences were not statistically significant and should be treated with caution due to the low sample size. Their abilities to detect both white light and UV light or UV-excited fluorescence were not significantly undermined, although their tendency to ensure a clear vision through self-cleaning behavior appeared to be reduced. Their heightened visibility on dark, leafmould substrate and greater crypticity on yellowish gravels may play a significant role in their natural survival. Additional evidence is required to substantiate this hypothesis as the function of scorpion coloration has been hardly studied. Several theoretical assumptions were proposed following a literature review on scorpion coloration and fluorescence, and this paper also serves as a brief synopsis of those aspects. Other three rare phenotypes in this species are also reported, defined here as piebaldism, hypomelanism and leucism. Given their existence, it is suggested that the loss of melanin in the epidermis beneath the ocelli is diagnostic for albinism in scorpions. [ABSTRACT FROM AUTHOR]

Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations of variants in different genes shape human phenotypes is expected to provide important insights into the clinical and genetic heterogeneity of rare disorders. Here, we use albinism, an archetypal rare condition associated with hypopigmentation, as an exemplar for the study of genetic interactions. We analyse data from the Genomics England 100,000 Genomes Project alongside a cohort of 1120 individuals with albinism, and investigate the effect of dual heterozygosity for the combination of two established albinism-related variants: TYR:c.1205 G > A (p.Arg402Gln) [rs1126809] and OCA2:c.1327 G > A (p.Val443Ile) [rs74653330]. As each of these changes alone is insufficient to cause disease when present in the heterozygous state, we sought evidence of synergistic effects. We show that, when both variants are present, the probability of receiving a diagnosis of albinism is significantly increased (odds ratio 12.8; 95% confidence interval 6.0 – 24.7; p-value 2.1 ×10−8). Further analyses in an independent cohort, the UK Biobank, support this finding and highlight that heterozygosity for the TYR:c.1205 G > A and OCA2:c.1327 G > A variant combination is associated with statistically significant alterations in visual acuity and central retinal thickness (traits that are considered albinism endophenotypes). The approach discussed in this report opens up new avenues for the investigation of oligogenic patterns in apparently Mendelian disorders. This study demonstrates that the co-occurrence of two specific variants in the TYR and OCA2 genes significantly increases the likelihood of having albinism. The outlined approach could help to elucidate digenic/oligogenic patterns in other rare conditions. [ABSTRACT FROM AUTHOR]

Cases of anomalous coloration are regularly reported in Neotropical mammals, including the rodent family Dasyproctidae (agoutis and acouchis) where leucistic and albino individuals have been observed. Here, we document the first case of leucism in the Brown Agouti (Dasyprocta variegata) in Bolivia. During a camera trap survey of the Barba Azul Nature Reserve, we obtained footage of a Brown Agouti with a completely white body. Additional pictures of this individual revealed that it has black eyes, indicating leucism instead of albinism. Previous observations (since 2017) of a white agouti in the area suggest that these anomalously colored individuals can survive in the wild. Rare observations of top predators suggest a relatively low predation pressure in the area. We had only one record of a South-American Puma (Puma concolor) during our camera trap survey. Hence, leucistic individuals of a common prey species might also be indicative of the dwindling population densities of top predators in the region. [ABSTRACT FROM AUTHOR]

Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin, as well as severe visual abnormalities. We focused on a subgroup of 29 patients for whom genetic diagnosis was pending because at least one of their identified variants in or around exon 10 of OCA2 is of uncertain significance (VUS). By minigene assay, we investigated the effect of these VUS on exon 10 skipping and showed that not only intronic but also some synonymous variants can result in enhanced exon skipping. We further found that excessive skipping of exon 10 could be detected directly on blood samples of patients and of their one parent with the causal variant, avoiding invasive skin biopsies. Moreover, we show that variants, which result in lack of detectable OCA2 mRNA can be identified from blood samples as well, as shown for the most common OCA2 pathogenic missense variant c.1327G>A/p.(Val443Ile). In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling. [ABSTRACT FROM AUTHOR]

This paper focuses on the social information needs of people with albinism (PWA) in Khomas region, Namibia, and the sources of information used PWA to meet their information needs. The study applies Moore's model of social information needs and Wilson's model of information behaviour to investigate and understand the information needs and sources used by PWA to find information. The study was carried out using a qualitative case design within interpretivism paradigm and semi-structured face-to-face interviews were used to collect data from participants. Sixteen participants took part in the study, eight were males, and eight were female participants. Among these participants, two were children with albinism. The following information was identified as being crucial to PWA namely: skin- and eye-related information, information on what is albinism and its causes, disability grants, educational information, and emotional and psychological support. Additionally, the study established that PWA use formal, informal, and human sources of information to find information. [ABSTRACT FROM AUTHOR]

Advances in virtual reality (VR) technology have created a wide range of remote work options. The goal of this study was to explore the experiences of individuals with albinism using VR work environments as a reasonable accommodation for remote work. Four cohorts of five participants each worked for 6 months at their leisure in a variety of virtual environments and met monthly with the research team to discuss positive and negative experiences with the technology and accessibility features. Using inductive thematic qualitative analysis, we followed a three-step coding process to identify themes in recorded transcripts of individual interviews and focus group discussions. The participants spent an average of 3.8 hours per week in VR, with an average session lasting 0.85 hours. From the coding analyses conducted by five coders, four themes were developed including the following: difficulties with VR's limitations, recommendations for improving accessibility in VR, benefits that VR could bring to the workplace, and navigation practice applications for VR. While VR provided improved visual experiences for nearly all participants, there are needed features that could dramatically improve accessibility. Although individuals with low vision can customize many features of VR to optimize their visual experience, many of these accessibility features are specific to applications and not consistent across developers and hardware ecosystems. Despite its shortcomings, VR shows great promise as an accommodation for people with low vision. In particular, individuals participating in the current study found great utility in VR's ability to assist with navigation of unfamiliar environments and its potential use in the workplace. [ABSTRACT FROM AUTHOR]

AIM: To investigate the effect of using base-out prisms on nystagmus, visual acuity and contrast sensitivity in patients with albinism. METHODS: In this interventional study, patients with albinism who had nystagmus were enrolled. A comprehensive eye exam was conducted, which included refraction, assessment of far and near vision acuity, and contrast sensitivity measurements. To check for the nystagmus, a videonystagmography was used. The tests were carried out in three modes: without any correction, with optical correction, and with correction using base-out prisms in three different powers, including 4, 6, and 8 prism diopters. RESULTS: Totally 23 patients with average age of 28.65±12.13 were examined. It was found that the use of optical correction and optical correction with prisms resulted in a statistically significant improvement in both far (at least: P

Objective Albinism is a genetic disease that causes vision limitations and skin and hair problems as a result of a disorder in melanin conversion. This disease can have wide psychosocial consequences among the sufferers. This study reviews and investigates the psychosocial experiences of people with albinism. Materials & Methods This study is a review type and a thematic synthesis. This review examined the qualitative articles published until February 2023 in Persian and English in the field of psychosocial experiences of people with albinism. Articles related to extensive search were selected in PubMed, Scopus, Web of Science, SID, and Magiran databases, as well as the Google Scholar search engine. Results In the first stage of the search, 868 articles were obtained, after removing duplicate and unrelated items and checking the titles and abstracts of the articles, 365 articles were omitted and 102 articles remained. By combining the codes of qualitative articles related to the psychosocial experiences of albinism, two main themes were obtained with the titles of psychosocial challenges of people with albinism (PWA) and support resources and coping strategies in people with albinism. Conclusion PWA experience many challenges in life and they are equipped with some support resources and coping strategies to deal with these challenges, which reduces the difficulty of the mentioned challenges. Knowing these psychosocial challenges and support resources can help professionals and individuals who deal with PWA to make policies and plan and develop treatment and rehabilitation programs to create favorable and effective conditions.

Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and hair pigmentation variations, along with visual impairments. Variants in eleven genes encoding protein complexes essential for membrane trafficking and intracellular endosomal transport pathways underlie various recognized HPS subtypes. This study focuses on HPS-9, a subtype of Hermansky-Pudlak Syndrome caused by a variant in the BLOC1S6 gene, which is a subunit of the BLOC1 complex. In this study, a novel Copy Number Variation (CNV) in the aforementioned gene in an Iranian family is reported. The study aims to better understand the etiology of HPS-9 symptoms by identifying and confirming the variant and determining whether the gene is expressed despite the deletion. There have only been five reports of this syndrome in the literature thus far. Our novel CNV represents a significant contribution to understanding the genetic basis of HPS-9. Results This study investigates a male patient presenting with albinism. Whole Exome Sequencing (WES) identified a homozygous deletion of approximately 350 bp using CNV analysis. The deletion affects the intronic region of the BLOC1S6 gene, causing uncertainties in defining the exact boundaries due to WES limitations. Primer walking and GAP-PCR techniques were used to define the deletion boundaries. Subsequent assessments of this variant across other family members helped identify homozygous affected members and heterozygous carriers. The absence of BLOC1S6 expression in the affected individual was confirmed through Real-time PCR experiments. These findings underscore the importance of understanding the implications for the patient’s healthcare and potential therapeutic approaches. Conclusion This study introduces a case of Hermansky-Pudlak Syndrome Type 9 (HPS-9) caused by a homozygous deletion in the BLOC1S6 gene. We identified an approximately 7-kb deletion encompassing exon 1 and the intronic region of the gene. The absence of BLOC1S6 expression, confirmed via Real-time PCR, highlights the importance of studying the pathogenicity of the deletion and its impact on the patient’s health. Our findings contribute to the sparse knowledge on HPS-9 and underscore the need for further exploration into the genetic causes of this rare disorder.

Abstract Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop photodermatoses and, ultimately, skin cancer. Objectives This study aimed to assess the knowledge and attitude towards photoprotection among PWAs in Uyo, Akwa Ibom, Nigeria. Methods A descriptive cross‐sectional study involving consenting 50 participants with oculocutaneous albinism was recruited through interviewer‐administered questionnaires. Data analysis utilised SPSS 26. Results The use of sun‐protective clothing was the predominant photoprotective measure (62%) with an overall low sun‐protection strategy usage of 5% and 10% knowledge rate, despite 80% acknowledging the daily use of various forms of photoprotection. Cost was cited as the commonest deterrent to poor use of sunscreen (47.8%). Conclusions Poor awareness and photoprotection usage amongst persons with albinism in Uyo are discouragingly below standard increasing their risk of developing photodermatoses which adversely affects their quality of life. Therefore, dermatologists should improve collaborative efforts at addressing barriers such as cost and enhancing knowledge about effective photoprotection strategies.

Background: Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and hair pigmentation variations, along with visual impairments. Variants in eleven genes encoding protein complexes essential for membrane trafficking and intracellular endosomal transport pathways underlie various recognized HPS subtypes. This study focuses on HPS-9, a subtype of Hermansky-Pudlak Syndrome caused by a variant in the BLOC1S6 gene, which is a subunit of the BLOC1 complex. In this study, a novel Copy Number Variation (CNV) in the aforementioned gene in an Iranian family is reported. The study aims to better understand the etiology of HPS-9 symptoms by identifying and confirming the variant and determining whether the gene is expressed despite the deletion. There have only been five reports of this syndrome in the literature thus far. Our novel CNV represents a significant contribution to understanding the genetic basis of HPS-9. Results: This study investigates a male patient presenting with albinism. Whole Exome Sequencing (WES) identified a homozygous deletion of approximately 350 bp using CNV analysis. The deletion affects the intronic region of the BLOC1S6 gene, causing uncertainties in defining the exact boundaries due to WES limitations. Primer walking and GAP-PCR techniques were used to define the deletion boundaries. Subsequent assessments of this variant across other family members helped identify homozygous affected members and heterozygous carriers. The absence of BLOC1S6 expression in the affected individual was confirmed through Real-time PCR experiments. These findings underscore the importance of understanding the implications for the patient's healthcare and potential therapeutic approaches. Conclusion: This study introduces a case of Hermansky-Pudlak Syndrome Type 9 (HPS-9) caused by a homozygous deletion in the BLOC1S6 gene. We identified an approximately 7-kb deletion encompassing exon 1 and the intronic region of the gene. The absence of BLOC1S6 expression, confirmed via Real-time PCR, highlights the importance of studying the pathogenicity of the deletion and its impact on the patient's health. Our findings contribute to the sparse knowledge on HPS-9 and underscore the need for further exploration into the genetic causes of this rare disorder. [ABSTRACT FROM AUTHOR]

In this paper, a digital bio-dosimeter (DBD) with a square window size of 7 × 7 pixels is proposed for the quantitative detection of the deformed biological cells irradiated by X-rays with different energies and γ-rays from 60Co. The basic idea of the DBD is to compute the energy of the bio-dosimeter window size by summing up the entire gray levels. Peripheral blood films (PBFs) from male albino rats irradiated by ionizing radiations are prepared and photographed using an Automatic Image Contour Analysis system with high magnification to produce a 2D image. The surf function in MATLAB is used to convert the 2D image to a 3D shaded surface to resample the date more finely. The proposed DBD shows that the computed energies on the boundaries of the normal RBCs are nearly the same, while the computed energies on the boundaries of the deformed cells are significantly larger. [ABSTRACT FROM AUTHOR]

Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% diagnostic rate. About half (15%) of the unsolved cases are heterozygous for one pathogenic or probably pathogenic variant. Assuming that the missing variant may be located in non-coding regions, we performed sequencing for 122 such heterozygous patients of either the whole genome (27 patients) or our NGS panel (95 patients) that includes, in addition to all exons of the 21 genes, the introns and flanking sequences of five genes, TYR, OCA2, SLC45A2, GPR143 and HPS1. Rare variants (MAF < 0.01) in trans to the first variant were tested by RT-PCR and/or minigene assay. Of the 14 variants tested, nine caused either exon skipping or the inclusion of a pseudoexon, allowing for the diagnosis of 11 patients. This represents 9.8% (12/122) supplementary diagnosis for formerly unsolved patients and 75% (12/16) of those in whom the candidate variant was in trans to the first variant. Of note, one missense variant was demonstrated to cause skipping of the exon in which it is located, thus shedding new light on its pathogenic mechanism. Searching for non-coding variants and testing them for an effect on RNA splicing is warranted in order to increase the diagnostic rate. [ABSTRACT FROM AUTHOR]

We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p. (Met1?), which is pathogenic, and homozygous for TYR c.1205G>A, p. (Arg402Gln), which is classified as a risk factor. The children manifested diminished visual acuity, nystagmus, and foveal hypoplasia. The first patient presented with hypopigmentation of the skin, hair, and ocular tissues, while the second patient presented with hypopigmentation of the skin, hair, retinal pigment epithelium, and choroid with dark brown irises. Furthermore, the brown-eyed subject presented astigmatic refractive error and both global and local stereopsis capabilities, contrasting with the presentation of hypermetropia, strabismus, and the absence of stereopsis in the blue-eyed individual. Herein, we propose a genotype–phenotype correlation model to elucidate the diverse clinical presentations stemming from biallelic and triallelic pathogenic variants in TYR, establishing a link between the residual tyrosinase activity and resultant phenotypes. According to our proposed model, the severity of TYR variants correlates with distinct albino phenotypes. Our findings propose the potential association between reduced pigmentation levels in ocular tissues and binocular functions, suggesting pigmentation as a possible independent variable influencing the onset of strabismus—an association unreported until now in the existing literature. [ABSTRACT FROM AUTHOR]

The contact strategy has proven to be effective in reducing stigma in relation a variety of disabilities and health-related conditions. This strategy requires people to be willing to present on their condition. This study explored what the considerations are of 'spokespersons' to do so. Semi-structured in-depth interviews were conducted. Informants (13) expressed how they felt about presenting, that it gave them the opportunity to develop themselves and to increase their status and confidence. Informants felt responsible for making a change in society and experienced their presentations as an effective strategy. The informants did not consider presenting themselves as a risk, as long as the necessary security arrangements are made, and proper training is provided. Recommendations are provided for the implementation and development of contact interventions in relation to health-related stigma. People with albinism in Tanzania experience a lot of discrimination. Discrimination and negative attitudes can be reduced when people with albinism give presentations about themselves, so that people can get to know them and learn more about albinism. In this research people with albinism explain they want to give presentations to improve people's attitudes towards people with albinism Giving presentations about albinism gives people with albinism more self-confidence The recommendations provided in this article can be used by organizations for the development of interventions in which people with lived experience present on their condition to create positive change. [ABSTRACT FROM AUTHOR]

Background: Terminalia bellirica has been extensively investigated and used since time immemorial as part of Ayurvedic practice entirely because of its curable properties. Their antioxidant, hepatoprotective, antibacterial, and immune-modulatory activities are mostly attributed to the presence of glucoside, gallic acid, and its esters, chebulinic acid, etc. Aims and Objectives: The aim of the study is to analyze the effects of sub-acute administration of T. bellirica fruit pulp aqueous extract (TBFPAE) in ameliorating pain in mouse models of the Swiss albino strain. Materials and Methods: Young mice of Swiss albino strain typically 3 months' of age; Male gender and weighing approximately 20-30 g were used for the purpose of the study. The mice were investigated by grouping them into five sets of six each randomly as control, standard, and trial groups. Group I was allotted as vehicle and given 1% gum acacia (10 mL/kg) as control; Group II was given pentazocine (5 mg/kg) as standard for central anti-nociceptive activity, while the IIIrd, IVth, and Vth groups received the investigative product TBFPAE per oral in doses of 9, 18 and 36 mg/kg, respectively. Eddy's hot plate technique was employed for assessing central anodyne activity. Results: All the test groups of TBFPAE were found to have an analgesic effect but doses 18 mg/kg and 36 mg/kg demonstrated greater effects, especially at 30 and 60 min. Maximum analgesic effect with TBFPAE was seen with 36 mg/kg dose at 60 min. Conclusion: Therefore, T. bellirica has some analgesic potential. However, further studies are required to confirm its dose and usage. [ABSTRACT FROM AUTHOR]

There have been worldwide reports of chromatic aberrations in bats, most striking among which is albinism. Albinism is an inherited, hypo-pigmentary state characterised by a complete lack of melanin. Albinistic individuals have pale skin, white fur, and pinkishred eyes. Here we report the first record of albinism in Lesser Woolly Horseshoe Bat Rhinolophus beddomei. During a bat survey in Goa, India; a single individual of albino Lesser Woolly Horseshoe Bat was recorded along with a normally coloured conspecific individual from a small shelter with tiled roof. We confirm the species identity of this bat based on its morphology, and acoustic characteristics of its echolocation call. We further update the list of colour aberrations in bats reported from india. [ABSTRACT FROM AUTHOR]

In order to determine the effect of nystagmus on objective visual acuity (VA) estimates, we compared subjective (VApsych) and objective (VEP, VAVEP) VA estimates in participants with nystagmus. For this purpose, 20 participants with nystagmus (NY) caused by idiopathic infantile nystagmus, albinism, achiasma or acquired nystagmus were recruited in this study. Estimates of BCVA (best corrected visual acuity) were determined psychophysically (VApsych; FrACT, Freiburg visual acuity test) and electrophysiologically (VAVEP; EP2000) according to ISCEV (International Society of Clinical Electrophysiology of Vision) guidelines. For each participant the eye with the stronger fixation instability [Nidek microperimeter (MP-1), Nidek Instruments] was included for further analysis. VApsych vs VAVEP were compared via paired t-tests and the correlation of the difference between VApsych and VAVEP (∆VA) vs the degree of fixation instability was tested with Pearson correlation (r). We found VAVEP to be better than VApsych [by 0.12 Logarithm of the Minimum Angle of Resolution (logMAR); mean ± standard error (SE) of VAVEP vs VApsych: 0.176 ± 0.06 vs. 0.299 ± 0.06, P = 0.017] and ∆VA to be correlated linearly with the degree of fixation instability (r2 = 0.21,p = 0.048). In conclusion, on average we report a small VA overestimation, around 1 line, for VAVEP compared to VApsych in NY. This overestimation depended on the magnitude of the fixation instability. As a rule of thumb, a reduction of the fixation probability in the central 4° from 100 to 50% leads on average to a VAVEP overestimation of around 0.25 logMAR, i.e. 2.5 lines. [ABSTRACT FROM AUTHOR]

Background: Oculocutaneous albinism (OCA) is a congenital heterogeneous group of autosomal recessive disorders characterized by the absence or loss of melanin in the skin, eyes and hair of the affected individuals. Based on the mutated gene, OCA has been classified into eight sub-types (OCA1-8) with overlapping clinical phenotypes. Mutations in the TYR gene cause OCA1, the most prevalent OCA worldwide including India. Mutations in OCA2 and SLC45A2, both of which regulate melanosomal pH that is critical to TYR activity, cause OCA2 and OCA4 respectively, the other common OCA subtypes in India. Methods: In the present study, we have included 54 OCA-affected cases from 41 unrelated families representing 16 different marriage/ethnic groups from 17 districts of West Bengal, India. We pursued a PCR-sequencing based approach followed by bioinformatic analysis to identify mutations in TYR, OCA2 and SLC45A2 genes. Results: Mutations were detected in 27 of the 54 (50%) OCA patients from 18 unrelated families, representing 9 different marriage/ethnic groups from 11 districts of West Bengal. Three TYR variants: NM_000372.4: c.391 A > G, NP_000363.1: p. Lys131Glu; NM_000372.4: c.1037G > T; NP_000363.1: p. Gly346Val, NM_000372.4: c.715 C > T; NP_000363.1:p.Arg239Trp was identified for the first time in Eastern Indian OCA cases. A novel nonsense variant: NM_016180.5: c.389 T > A, NP_057264.4: p. Leu130* and a novel synonymous variation NM_016180.5: c.1092 A > G; NP_057264.4: p.364E = were identified in SLC45A2. Additionally, NM_016180.5: c.904A > T; NP_057264.4: p. Thre302Ser was identified for the first time in any Eastern Indian OCA case. We identified 2 previously reported mutations in OCA2. In concordance with previous reports, NM_000372.4: c.832C > T, NP_000363.1: p. (Arg278*) was the commonest TYR mutation. Conclusion: The results of our study enrich the mutational spectrum of the known OCA causing genes in Eastern India, which would facilitate accurate diagnosis, familial screening, carrier detection and containment of the disease load. [ABSTRACT FROM AUTHOR]

This article examines the work of two contemporary feminist disabled artists who are originally from India, and who currently live and work in the United States. Bhavna Mehta and Sugandha Gupta both work in textiles, and identify as women with disabilities. Mehta embroiders X-rays of her own body that capture her medical condition as someone with polio and who uses a wheelchair, where she uses embroidery skills passed down to her by female family members in India. Mehta rescripts the medical narratives of her condition so that her disability is accorded a literal and metaphorical personal touch, antithetical to the often-dehumanizing imagery that pervades within the medical industrial complex. Gupta, who was born with albinism, which also impacted her vision at birth, uses felt and other materials inspired by craft research in India to create sensorial fabrics that disrupt the hierarchy of the senses, with an emphasis on the generative tactile properties of objects. By analyzing the work of these two artists, I not only aim to introduce underrepresented feminist art histories, expanding the literature of the Global South, but I also wish to offer an argument that these artists are crafting new feminist forms of disability and re-envisioning Indian textile traditions. [ABSTRACT FROM AUTHOR]

In 2017, one pair of Oriental reed warblers (Acrocephalus orientalis) with color aberrations was found in Yongnianwa National Wetland Park, Hebei, China. The female bird exhibited white feathers on the head, neck, and upper back, and the base of the beak was flesh‐red in color. The male had a few feathers on the outer edges of the left and right primary wing coverts that were white, which was determined to be leucism after analysis. The breeding pairs laid their first egg on May 29, with a clutch size of four eggs. After an incubation period of 13 days, two chicks hatched on June 13, 2017. The nest was found empty on June 20 when the chicks were 7 days old and before fledging age; therefore, it was presumed that the chicks had been predated. A white parrot egg was added to the nest during the incubation period to test the egg recognition ability of breeding pairs and was successfully rejected. To the best of our knowledge, this is the first report of color aberrations in the Oriental reed warbler, and we found that this color aberrations did not affect some reproductive and antiparasitic behaviors of the birds, but whether it affects their breeding success needs to be further studied. [ABSTRACT FROM AUTHOR]

Background: Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in Hermansky–Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets. Methods: In this report, we describe a case of a pair of Puerto Rican siblings with albinism that were clinically diagnosed with HPS during childhood. Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. We performed exome sequencing, validation by PCR, and cloning of PCR products followed by Sanger sequencing in the family members. Results: We discovered no mutations that could explain an HPS diagnosis. Instead, we found the siblings were compound heterozygotes for 4 variants in the Tyrosinase gene: c.‐301C>T, c.140G>A (rs61753180; p.G47D), c.575C>A (rs1042602; p.S192Y), and c.1205G>A (rs1126809; p.R402Q). Our results show that the correct diagnosis for the siblings is OCA1B. Conclusion: Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especially in populations were the disease prevalence is higher. [ABSTRACT FROM AUTHOR]

Background: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by CLCN7. Methods: Nicoli et al. (2019) assessed the functional impact of p.Tyr715Cys by heterologous expression in Xenopus oocytes and evaluating resulting currents. Results: The variant led to increased outward currents, indicating it underlies the patient's phenotype of lysosomal hyperacidity, storage defects and vacuolization. This demonstrates the crucial physiological role of ClC‐7 antiporter activity in maintaining appropriate lysosomal pH. Conclusion: Elucidating mechanisms by which CLCN7 variants lead to lysosomal dysfunction will advance understanding of genotype–phenotype correlations. Identifying modifier genes and compensatory pathways may reveal therapeutic targets. Ongoing functional characterization of variants along with longitudinal clinical evaluations will continue advancing knowledge of ClC‐7's critical roles and disease mechanisms resulting from its dysfunction. Expanded cohort studies are warranted to delineate the full spectrum of associated phenotypes. [ABSTRACT FROM AUTHOR]

Albinism is an inherited genetic condition, which results in a decrease or absence of pigmentation in the hair, eyes, and skin. Studies on albinism in Africa have focused on a wide range of themes with little or no effort to capture the unique experiences of women with albinism, particularly in relation to their unemployment challenges. Here, we explore the unemployment challenges of women with albinism in Ibadan, southwest Nigeria. We found that rejection based on skin color, prejudicial notion that women with albinism have body odor, general notion of their incompetence because of impaired eyesight, and stereotypical adherence to myths that albinism is bad all contribute to their exclusion from the labor force. We conclude that women with albinism in Ibadan experience double jeopardy of economic marginalization and livelihood deprivation due to their condition of albinism on one hand, and their being women, on the other hand. The article explores the lived experiences of women with albinism and barriers to their employment opportunities. Although there is no written institutional policy to discriminate against women with albinism, there are unfounded assumptions driven by ignorance of the condition. The article finds a two-fold challenge-being stigmatized for albinism and being a woman in a male centric society. While women with albinism in Nigeria are deprived access to white collar jobs, their entrepreneurial skills are also undermined in private business. There is no genuine political will to implement existing international and national laws that prohibit discrimination against people with disability. The research recommended the need to mainstream and monitor disability inclusion through education and advocacy across government ministries and human resource personnel in recruitment exercises. [ABSTRACT FROM AUTHOR]

Diabetes causes elevated blood sugar levels, and it has been categorized as one of the most frequent causes of death worldwide. This work aimed to analyze and compare the nutraceutical and therapeutic efficacy of fenugreek seeds (FSs) (Trigonella foenum‐graecum) and black cumin seeds (BCSs) (Nigella sativa) against streptozotocin‐induced diabetes mellitus in albino rats. FS and BCSs were evaluated for proximate analysis, phytochemicals, and antioxidant activities. Male albino rats were used to evaluate the in vivo antidiabetic activities of these medicinal plants for 42 days. Blood samples were drawn at regular intervals of 1 week to analyze blood glucose, plasma insulin, and cholesterol levels and to determine the homeostatic model assessment of insulin resistance (HOMA IR) index. At the end of the trial, pancreas tissue was also collected for histological examination. Results of the proximate analysis showed the significant presence of moisture, ash, fat, protein, and fiber. Antioxidant parameters like 2,2‐diphenyl‐1‐picrylhydrazyl, total phenolic content, and total flavonoid content were found to be significant. There was a significant (p < 0.05) decrease in blood glucose level, serum cholesterol level, and insulin resistance in treatment groups T3–T5. Insulin and body weight results of treatment groups were significant (p < 0.05) compared to streptozotocin‐intoxicated animals. Histological examination revealed the nutraceutical impact of selected herbal plants due to enhancing impact on the size and the number of β‐cells in the pancreas. Findings of current research work explore the antidiabetic capacity of selected nutraceutical and medicinal plants. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to identify the common mutations of (Oculocutaneous albinism)OCA1 and OCA2 genes in Sindhi Inbred Families. Study Design: Descriptive cross-sectional study. Place and Duration of Study: Liaquat University of Medical and Health Sciences (LUMHS), Jamshoro, Pakistan, from October, 2020 to September, 2022. Methods: Forty-four patients of eight families with clinically diagnosed OCA and Ocular albinism (OA) with or without family history were recruited for this study and all affected individuals other than OCA were excluded from the study. A single missense substitution was identified in the OCA1 and OCA2 using Poly Phen 2, Mutation Taster and I-Mutant software. Results: Out of 8 randomly chosen OCA afflicted families, there were two carriers and two affected individuals identified in family III. In exon 4 of the OCA1 gene, a common mutation (homozygous) c.1255 G>A (p. Gly419Arg) was identified. In three-generation pedigree for the albinism family VII was identified, including two affected, one carrier, and two normal people. Participants in this family who carried the 1045-15 T>G mutation in the OCA2 gene were affected. Conclusion: Albinism affected individuals in Pakistan have varying phenotypic and genetic presentations. This is due to the fact that the population of Pakistan and those of Sindhi ancestry are heavily inbred, consanguineous, segregated, and afflicted by hereditary diseases. [ABSTRACT FROM AUTHOR]

Levetiracetam (LEV) is being used by women with reproductive-age epilepsy at a significantly higher rate. The purpose of the study was to assess how levetiracetam treatment during pregnancy affected the offspring's weight and cerebellum. Forty pregnant rats were divided into two groups (I, II). Two smaller groups (A, B) were created from each group. The rats in group I were gavaged with approximately 1.5 mL/day of distilled water either continuously during pregnancy (for subgroup IA) or continuously during pregnancy and 14 days postpartum (for subgroup IB). The rats in group II were gavaged with about 1.5 mL/day of distilled water (containing 36 mg levetiracetam) either continuously during pregnancy (for subgroup IA) or continuously during pregnancy and 14 days postpartum (for subgroup IB). After the work was completed, the body weight of the pups in each group was recorded, and their cerebella were analyzed histologically and morphometrically. Following levetiracetam treatment, the offspring showed decreased body weight and their cerebella displayed delayed development and pathological alterations. These alterations manifested as, differences in the thicknesses of the layers of cerebellar cortex as compared to the control groups; additionally, their cells displayed cytoplasmic vacuolation, nuclear alterations, fragmented rough endoplasmic reticulum and lost mitochondrial cristae. Giving levetiracetam to pregnant and lactating female rats had a negative impact on the body weight and cerebella of the offspring. Levetiracetam should be given with caution during pregnancy and lactation. [ABSTRACT FROM AUTHOR]

Albinism is a genetic disorder caused by a series of genetic abnormalities that result in a decrease in melanin. Golden yellow snakehead fish (GCAS) has been discovered while the Channa argus (CAS) breeding, but the genetic mechanism that causes its albinism is not known. Transcriptome sequencing and comparison of CAS and GCAS skin using Oxford Nanopore Technologies (ONT) technology to elucidate the molecular mechanisms of snakehead albinism.27.1 G clean reads and 26,198 full-length non-redundant sequences were generated via ONT sequencing. Overall, 8079 new transcripts and 7231 genes were identified by comparing and analyzing redundant removed transcripts and known reference genome annotations. The results of DEGs analysis showed that a total of 59 transcripts were differentially expressed in the two groups, including 22 up-regulated transcripts and 37 down-regulated transcripts. Five causative genes associated with albinism have been identified, including TYR (Tyrosinase) and SOX10 (SRY-box transcription factor 10) (tyrosinase synthesis and metabolism), S-100 (S100 calcium binding protein A1) (melanin production), NLRC3 (NLR family CARD domain containing 3) (disease immunity) are significantly down-regulated in GCAS, while RhoGEFs expression (melanin synthesis) is upregulated. Protein interaction analysis revealed that GAPDH (Glyceraldehyde-3-phosphate dehydrogenase) is the top hub gene in the regulation of skin color in C. argus. In addition, the skin of snakehead fish is regulated by metabolic (GAPDH), immune [(Tumor protein p53 (TP53), C-X-C motif chemokine ligand 8 (CXCL8), SRC protooncogene, non-receptor tyrosine kinase (SRC), CD274] and neural [(Notch receptor 1 (NOTCH1), C-X-C motif chemokine ligand 12 (CXCL12)] related genes to achieve differences in skin color. These findings in understanding the process by which albinism in fish develops. [ABSTRACT FROM AUTHOR]

Introduction: Nicotine is the principal alkaloid contained in tobacco and is produced by plants of nightshade family. Nicotine has relatively high toxicity with varied effects on our body. The liver of albino rats resembles human liver both microscopically as well as microscopically. Aims and objectives: The aim of study was to study gross and histopathological changes induced by administration of graded doses of nicotine hydrogen tartrate in albino rats over a period. Material & methods: A total of 36 male albino rats were included in our study and after a period of acclimatization, were divided in to three groups of 12 rats each with one group serving as control while as other two groups received nicotine in concentration of 5mg/10ml and 7.5mg/10ml.The rats were sacrificed later to study for changes in liver anatomy. Results and observation: The most common changes were progressive decrease in weight of albino rats and pentad of microscopic changes including central venous congestion, portal venous congestion, sinusoidal congestion, fatty changes of hepatocytes and inflammation of portal triads. Conclusion: The findings of our study clearly revealed that changes induced in microanatomy of liver in male albino rats were directly related with dosage and duration of nicotine administration and considering the similarity between human liver and liver of male albino rats, the therapeutic administration of nicotine in human population should be rigorously studied by more experimental studies. [ABSTRACT FROM AUTHOR]

Color mutations are a common phenomenon in vertebrates. Among these anomalies, albinism is the most common in wild mammals. We deployed 78 camera traps across the Yoko Council Forest (YCF) to inventory medium to large-sized terrestrial mammals and we obtained a total effort of 17,981 operational camera trap days, giving 169 detections of long-nosed mongoose. During this study, we obtained two independent detections of albino long-nosed mongooses (Xenogale naso). To our knowledge, this is the first report of albinism in this taxon. [ABSTRACT FROM AUTHOR]

Objective Albinism is a genetic disease that causes vision limitations and skin and hair problems as a result of a disorder in melanin conversion. This disease can have wide psychosocial consequences among the sufferers. This study reviews and investigates the psychosocial experiences of people with albinism. Materials & Methods This study is a review type and a thematic synthesis. This review examined the qualitative articles published until February 2023 in Persian and English in the field of psychosocial experiences of people with albinism. Articles related to extensive search were selected in PubMed, Scopus, Web of Science, SID, and Magiran databases, as well as the Google Scholar search engine. Results In the first stage of the search, 868 articles were obtained, after removing duplicate and unrelated items and checking the titles and abstracts of the articles, 365 articles were omitted and 102 articles remained. By combining the codes of qualitative articles related to the psychosocial experiences of albinism, two main themes were obtained with the titles of psychosocial challenges of people with albinism (PWA) and support resources and coping strategies in people with albinism. Conclusion PWA experience many challenges in life and they are equipped with some support resources and coping strategies to deal with these challenges, which reduces the difficulty of the mentioned challenges. Knowing these psychosocial challenges and support resources can help professionals and individuals who deal with PWA to make policies and plan and develop treatment and rehabilitation programs to create favorable and effective conditions. [ABSTRACT FROM AUTHOR]

Background: Abrus precatorious is a member of the leguminous family with characteristic red and black seeds. The roots, leaves and seeds of this plant are used for different medicinal purpose. It principally carries flavonoids, triterpene glycosides, abrin and alkaloids. The plant had been mentioned for neuromuscular effects, neuro-protective, abortifacient, antiepileptic, anti-viral, antimalarial, antifertility, nephroprotective, immunomodulator, immunostimulatory properties, antiinflammatory activity, antidiabetic, and many others. The aim of this study was to investigate the anti-fertility activity of the methanol extract of Abrus precatorius seeds (APS) in female albino rats administered 45 and 50 mg/kg BW through oral gavage for 30 days. An Abrus precatorius seed (APS) was extracted (1:1 w/v) using methanol to obtain the crude extract. Liquid-liquid fractionation was performed on the crude methanol extract using solvents of different polarity. Methods: Eighteen female rats were divided into three groups each containing six animals was used for this experiment. Group one (control), received 1 ml of saline solution, group two received 45 mg/kg and group three received 50 mg/kg body weight by oral gavage daily for a period of 30 days. At the end of the study, Body weight, Organ Weight, Estrous cycle, Hormonal Concentrations, Oxidative Stress Markers, Enzymatic Activities, Biochemical indices (Liver and Kidney panel) and Hematological parameters were also evaluated. Results: Consequent upon the administration of A.precatorius seed methanol extract 45 and 50 mg/kg BW into the female rats resulted in changes pertaining to Body weight, Estrous cycle, Hormonal Concentrations, Antioxidant Enzymes, Serum Biochemical indices and Hematological indices significantly (p < 0.05) compared to control rats. Initial body weights are significantly (p < 0.05) indicated, whereas final weights were decreased significantly (p < 0.05). Organ weight changes i.e. Ovary, Liver and Kidney weights were found to be significantly (p < 0.05) decreased in APS administered rats compared to control. Estrous cycle study i.e. time duration of Proestrus, Estrus, Metestrus and Diestrus (in days) was significantly prolonged. Hormonal Concentrations represented by FSH, LH, Prolactin, Estradiol were significantly (p < 0.05) decreased, whereas Progesterone levels were significantly (p < 0.05) increased in APS administered female rats compared to control group of rats. All the antioxidant enzyme assayed CAT, SOD, GPx, GR and GST were found to be significantly (p < 0.05) decreased, whereas MDA concentration was found to be increased significantly (p < 0.05). Enzymatic activities and biomolecules includes Cholesterol and Ascorbic acid contents were significantly increased (p < 0.05), but G6PDH and Δ5 − 3β-HSD activities were found to be significantly (p < 0.05) decreased in APS administered group of female rats compared to control group. Biochemical indices of liver tissue presented by Bilirubin, SGPT, SGOT, Albumin and Globulin were found to be significantly (p < 0.05) increased whereas Alkaline Phosphate and Total Protein contents were found to be significantly (p < 0.05) decreased. The biochemical indices of kidney, i.e. Urea and Creatinine were significantly (p < 0.05) increased and Uric acid and Calcium contents were found to be significantly (p < 0.05) decreased in APS administered female rats compared to control group of rats. Hematological parameters including RBC, Hb, ESR and Clotting Time were found to be significantly (p < 0.05) increased but WBC levels were significantly (p < 0.05) increased in APS administered female rats compared to control group of rats. Conclusion: A. Precatorius seeds have anti-fertility effect on female rats. [ABSTRACT FROM AUTHOR]

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia. Genetic testing was performed. A heterozygous missense VUS CAPN5 c.230A>G, p.(Gln77Arg), a heterozygous missense VUS TYR c.1307G>C, p.(Gly436Ala), and a heterozygous missense variant TYR c.1205G>A, p.(Arg402Gln) which was classified as a risk factor, were identified. We hypothesized that the TYR c.1307G>C, p.(Gly436Ala) variant is in genetic disequilibrium with the TYR c.1205G>A, p.(Arg402Gln) variant leading to deficient expression of melanogenic enzymes in retinal cells, resulting in the manifestation of mild OCA. Additionally, this study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient's case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant. [ABSTRACT FROM AUTHOR]

Albinism is a group of rare genetic disorders that are caused by the absence or reduction of melanin biosynthesis in the body. This condition can cause both neuropsychiatric and social problems, so this literature review evaluated the psychosocial implications of this condition in terms of everyday life experiences, emotional state, self-perception, and quality of life. Most studies on albinism have been conducted in Africa, assessing the significant impact of the disease on quality of life, emotional state and psychiatric comorbidities. Recurrent themes associated with albinism are: discrimination and stigma in childhood and adolescence, discomfort in social interactions, anxiety, depression, transmission guilt, importance of social support from family and friends, altered functioning of daily life, altered romantic and sexual life, limited academic and professional aspirations, lack of interest and support in the medical field, and unpredictability of disease progression. This review demonstrated that there is an urgent need for support systems for patients with this disease. Early neuropsychiatric evaluation and empowerment training is recommended to improve vision-related performance, neurodevelopment, and all other psychological and social difficulties. [ABSTRACT FROM AUTHOR]

Oxidative processes give rise to reactive oxygen species/oxidants which are detrimental to living cells and underlie many pathologic conditions. On the other hand, many plant species possess antioxidant properties and phytochemicals which are closely linked to their therapeutic potentials. Solanum macrocarpon is a tropical plant which is traditionally claimed to possess therapeutic properties. Although, antioxidant potentials have been reported for different Solanum species and antioxidants have been reported to improve sperm morphology and motility; this has not been fully elucidated in S. macrocarpon. Following a comparative phytochemical and in vitro antioxidant screening of S. macrocarpon fruit, leaf and root ethanol extracts, this study evaluated the effect of S. macrocarpon leaf ethanol extract (SMLE) on sperm parameters in vitro and antioxidant enzymes in vivo. The effect of SMLE on sperm motility and vitality was examined in vitro at concentrations of 2.5, 5 and 10 mg/ml at 1, 5 and 10 min' intervals. Furthermore, thirty male albino rats (10–12 weeks old), separated at random into six groups (A–F, n = 5), and administered SMLE for 42 days, were used to investigate the antioxidant potency (AP) of SMLE in vivo. The phytochemical screening of different parts of S. macrocarpon revealed that SMLE had the highest (p < 0.05) composition (mg/100 g) of tannins, flavonoids, steroids, terpenoids and saponin compared to fruit and root extracts. Furthermore, SMLE had the highest (p < 0.05) DPPH-scavenging antioxidant potency, which was similar to that of the control (ascorbic acid) at 200 µg/ml concentration, compared to the fruit and root extracts. SMLE significantly (p < 0.05) exhibited spermicidal potency in vitro in terms of reduced sperm motility and vitality but showed no significant effect on lipid peroxidation/antioxidant enzymes in vivo. The findings suggest that the SMLE possesses in vitro spermicidal potential despite its potent antioxidant activity. [ABSTRACT FROM AUTHOR]

Several desirable properties of silver nanoparticles (AgNPs) have found extensive use in consumer and healthcare products. Due to their potential to penetrate the nucleus and harm genetic material, their adverse effects, however, are mostly unknown and appear inevitable. This study aimed to determine genotoxic potential of AgNPs using mitotic index (MI) and structural chromosome aberrations (SCA) test in bone marrow cells of Mus musculus male albino mice. Two generations were experimented in this study, the first and second generation. In the first generation, five groups of five male mice including control group were used and intraperitoneally (IP) injected with two doses of AgNPs (50 mg/kg and 150mg/kg) in one-time and two-time doses manner. Then two-time dosed 150 mg/kg group was left for breeding and their male progenies (described as second-generation group) were dissected for detecting whether that abnormality in the male parent will transmit to progenies or not. Bone marrow cells were taken 24 hours following the last treatment. The results showed that AgNPs exposure significantly increased (P ≤0.05) number of SCA and decreased (MI) compared to negative control. Centromere breaks and gaps, along with ring chromosomes, also were the most frequent chromosome aberrations. The results suggest that AgNPs may be able to cause SCA-mediated genotoxicity in mice, with declining MI ratio after increasing dose and injection frequency. Still regular monitoring of their possible health effects as well as further characterization of their genotoxicity is necessary. [ABSTRACT FROM AUTHOR]

Hypopigmentation disorders pose significant diagnostic challenges in dermatology, sometimes reflecting underlying hematological conditions. This review explores the clinical presentations related to hypopigmentation in hematological disorders, focusing on vitiligo, morphea, and syndromic albinism. Vitiligo, an autoimmune disorder targeting melanocytes, involves interactions between genetic polymorphisms and immune responses, particularly regarding CD8+ T cells and IFN-γ. Drug-induced vitiligo, notably by immune checkpoint inhibitors and small-molecule targeted anticancer therapies, underscores the importance of immune dysregulation. Morphea, an inflammatory skin disorder, may signal hematological involvement, as seen in deep morphea and post-radiotherapy lesions. Syndromic albinism, linked to various genetic mutations affecting melanin production, often presents with hematologic abnormalities. Treatment approaches focus on targeting the immune pathways specific to the condition, and when that is not possible, managing symptoms. Understanding these dermatological manifestations is crucial for the timely diagnosis and management of hematological disorders. [ABSTRACT FROM AUTHOR]

We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing revealed the presence of a heterozygous pathogenic oculocutaneous albinism OCA2 gene mutation, conferring carrier status. To the best of our knowledge, this is the first reported case of typical ocular phenotype of albinism, specifically nystagmus, in a patient who is carrier for oculo-cutaneous albinism. Further research is required to expand the genotype-phenotype relationship in carriers of oculocutaneous albinism. [Ophthalmic Surg Lasers Imaging Retina 2024;55:349–353.] [ABSTRACT FROM AUTHOR]