Case Of Albinism Research Articles

The Common Genet (Genetta Genetta) in Europe: A Biological and Ecocritical Analysis

The case of the Common Genet (Genetta genetta; Mammalia, Carnivora) shows how comparative literature, using ecocriticism as a framework, can work in combination with natural science to address and solve some enigmas related to the presence of the species in Europe. This paper shows how literary analysis can provide appropriate answers for questions planned in the field of biology. Three interconnected issues will be addressed: the origin of the genet in Europe; the cases of albinism and melanism in genets and the putative use of the species as a kind of cat in human environments. Biogeography and genetics suggest that the genet was brought to Europe by human beings, ignoring the questions of who, when, with what specific aim, and with what consequences. Biological arguments will be exposed, followed by those of comparative literature that support the science and/or suggest additional options. Thus, natural science and comparative literature enrich and complement each other in order to perform this complex case study.

First Record of Partial Albinism in the Chinese Fanray, Platyrhina Sinensis (Elasmobranchii: Myliobatiformes: Platyrhinidae)

A female albino fanray specimen was collected by trawl from the southern Taiwan Strait on April 11, 2022. This unique individual was identified as the Chinese fanray, Platyrhina sinensis (Bloch & Schneider, 1801), based on morphological identification and DNA barcoding. It was classified as partial albinism (leucism) due to the absence of pigmentation in the skin and normal pigmentation in the irises. This specimen represents the first reported case of albinism within the family Platyrhinidae, providing valuable insights for physiological and ecological research on albino fish.

Shining Light on Albinism: A Family Case Series

Albinism is a common hereditary condition characterized by the absence or reduction of melanin production in melanocytes, resulting in the distinctive white appearance of the skin, hair, and eyes. The complex process of melanin production involves the tyrosinase enzyme, copper, tyrosine (phenylalanine), and is under genetic control. Ocular albinism, primarily affecting the eyes, is X-linked and presents with varying amounts of melanin in the hair and skin. However, some individuals exhibit a complete absence of melanin in the skin, eyes, and hair, which is transmitted as an autosomal recessive trait. The incidence of albinism varies across populations, with a higher prevalence observed in regions with darker skin tones, such as Africa, where the incidence is approximately 1 in 200 individuals. In contrast, in regions with predominantly light-colored skin, like Europe, albinism is less prevalent, affecting approximately 1 in 2000 individuals. India, with its diverse population, presents a unique context, making individuals with albinism easily noticeable. Exposure to sunlight can lead to sunburn and photophobia, further limiting their daily activities and livelihoods. In this case series, we present five cases of albinism within a single family, highlighting the challenges they face in their daily lives, including the avoidance of outdoor activities due to sun sensitivity. The psychological schemas of experiencing feelings of shyness, embarrassment, and social withdrawal due to the heightened visibility of their condition were discussed in focused group discussion. This case series underscores the importance of understanding and addressing the unique social and healthcare needs of individuals and families affected by albinism in diverse global contexts. Keywords: Albinism, Melanocyte, Melanin, Tyrosinase, OA (ocular albinism), OCA (Oculocutaneous Albinism)

Presence and monitoring of albino giant anteaters (Myrmecophaga tridactyla) in the Cerrado savanna

Here we present two cases of albinism in giant anteaters from the same area in Central Brazil. The two juvenile individuals presented light-colored fur, unpigmented eyes, and pinkish skin around the eyes, ears, and snout tip. One of the individuals died before achieving adulthood. Given that albinism might affect individual behavior, survival, and fitness, we have started the GPS monitoring of one of the albino individuals. We present the results of our initial health assessment of the individual, showing that its parameters are generally within normality. We also present opportunistic observations showing that its atypical coloration did not affect intraspecific interactions, i.e., the parental care provided by its mother. Finally, we discuss the potential relationship between the individuals, how this could be related to landscape degradation and its associations with population declines in the region. Hence, these records provide additional evidence on the urgency of implementation of conservation measures to cease further population declines of giant anteaters in the Cerrado biome, here, focusing on the Mato Grosso do Sul state, Brazil.

A novel mutation on OCA2 gene detection and preimplantationgenetic diagnosis for oculocutaneous albinism type 2 (OCA2)

Oculocutaneous albinism (OCA) is a group of recessive genetic congenital disorders characterised by a disorder of melanin synthesis. OCA is currently classified into seven different types, of which OCA type 2 (OCA2 - OMIM 203200) ranks as the second most common type of albinism in the world and accounts for nearly 30% of albinism cases. Nowadays, there is currently no known way to treat OCA. Preimplantation genetic diagnosis (PGD) is the most effective method of disease prevention, which helps families carrying gene mutations to have healthy children. Objectives: To develop a procedure and conduct PGD for embryos of a family carrying the OCA2 mutation causing OCA2. Materials and methods: Research subjects are blood samples of four members of an OCA family, including father, mother, and two daughters; and 6 embryo biopsies on day 5 of this parents. Next-generation sequencing (NGS) was carried out on family members participating in the study. Based on the identified mutation results, primers for PCR amplification of the segments spanning the detected mutation were designed. Then, Sanger sequencing method is combined with linkage genetic analysis to detect pathogenic mutations on embryo biopsies after whole-genome amplification (WGA). Results: A novel mutation NM_000275.3:c.2323G>A (NP_000266.2: p.Gly775Ser) was detected on exon 22 of the OCA2 gene. The outcomes of PGD for 6 embryos of a family carrying the OCA2 mutant gene causing OCA2 were 3 affected embryos, 2 normal embryos, and 1 carriers.

Extending records of albinism and skin disorders in American cownose rays to southeastern Brazil.

Albinism is a genetic condition expressed as a lack of integumentary and retinal melanin. Although documented across many vertebrate species, albinism and other skin disorders are rarely observed in elasmobranchs (sharks and rays). The present study describes the first confirmed case of albinism in American cownose ray (Rhinoptera bonasus), and three other juveniles of the species with undetermined skin disorders observed in São Paulo, southeastern Brazil. Pigmentation disorders have already been observed in American cownose rays from the North Atlantic, including two cases of leucism and a possible albinism. Based on the results, it was discussed the possible consequences of albinism for the ray survival as well as the possible causes for the undetermined skin disorders.

First case of albinism registered for <i>Ateles chamek</i> (Humboldt, 1812)


 
 
 Albinism is rarely documented amongst Neotropical mammals, especially in primates, for which only a few cases have been reported. In this paper, we report the first case of albinism in a wild black-faced black spider monkey (Ateles chamek) found on the Las Piedras River in south-eastern Peru. The individual, a juvenile female, was sighted in a group in primary forest between 2017 and 2020.
 
 

First report of albinism in a lactating female of the chestnut long-tongued bat Lionycteris spurrelli Thomas, 1913 (Chiroptera, Phyllostomidae)

Abstract Albinism is a genetic disorder that causes pigmentation anomalies. Even though supposedly rare in free-living mammals, cases of albinism have been reported worldwide, particularly in bats. In this article we present a new case of albinism in a Lionycteris spurrelli Thomas, 1913. The individual, observed in an Amazon region iron ore cave, in Northern Brazil, was a lactating female with a dark-brown pelage pup.

First reported case of albinism in Montane water vole

First reported case of albinism in Montane water vole

Albinism in Brazilian common opossums (Didelphis aurita)

Abstract Albinism has been sporadically recorded in Virginia opossums (Didelphis virginiana) in the United States and Mexico, but records of pigmentation disorders in other Didelphis spp. are rare. The Brazilian common opossum (Didelphis aurita) is a cat-sized nocturnal omnivorous marsupial that inhabits Atlantic and Araucaria forests in South America. A litter of five young Brazilian common opossums was rescued at Espírito Santo state, southeast Brazil, of which two were albinos (one male, one female) and the remaining had normal pigmentation (three males). The two albinos had a complete lack of integumentary and retinal pigmentation, representing the first recorded cases of albinism in this species (and the first record in a Didelphis sp. other than the Virginia opossum).

Albinism in a Yellow-bellied Earth Snake (Geophis godmani Boulenger, 1894) (Serpentes: Dipsadidae) from Central Costa Rica

Anomalous pigmentations have been reported in several groups of reptiles. Among these, albinism is one of the most striking aberrations of body coloration. This pigmentary anomaly is caused by the absence of melanin in the integument. Many cases of albinism have been reported in snakes, primarily in species with cryptozoic habits, and several reports are available for the Dipsadidae family from South America. Geophis is one of the most diverse genera in this family, with 50 species distributed mainly in Mesoamerica. The Yellow-bellied Earth Snake (Geophis godmani) is known only from the mountain ranges of Costa Rica and western Panama. In September, 2020 we encountered an albino individual of the Yellow-bellied Earth Snake at Palmira de Zarcero, Alajuela province, Costa Rica. Here we report on this finding and discuss possible consequences of albinism in snakes. Snakes affected by albinism have red eyes and a yellow or pink coloration due to the presence of xanthophores and erythrophores. As a result, aspects such as thermoregulation can be affected, and jeopardize the snake's survival. However, some individuals can have traits that potentially preclude the negative effects of albinism. These characteristics would allow for the survival of individual snakes to the adult stage, such as the albino individual of Geophis godmani we found in central Costa Rica.

Клинико-генетические аспекты альбинизма

Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e.g., Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. These disorders should be identified as early as possible to start therapy to prevent life-threatening conditions. Partial albinism with ocular, skin or hair hypopigmentation not associated with melanogenesis (e.g., Griscelli syndrome, Waardenburg syndrome, Aland Island eye disease, etc.) also occurs. Each case of albinism requires an accurate molecular genetic diagnosis to provide a personalized treatment approach, predict life expectancy and health status, and plan pregnancy. Keywords: albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, hypopigmentation, clinical polymorphism, genetic heterogeneity. For citation: Kadyshev V.V., Ryazhskaya S.A., Khalanskaya O.V. et al. Clinical and genetic aspects of albinism. Russian Journal of Clinical Ophthalmology. 2021;21(3):175–180 (in Russ.). DOI: 10.32364/2311-7729-2021-21-3-175-180.

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Occasionally, GS-2 patients with RAB27A mutation display normal pigmentation. The study of such variants provides the opportunity to map distinct binding sites for tissue-specific effectors on RAB27A. Here we present a new case of GS-2 without albinism (GS-2 sine albinism) caused by a novel missense mutation (Val143Ala) in the RAB27A and characterize its functional cellular consequences. Using pertinent animal cell lines, the Val143Ala mutation impairs both the RAB27A–SLP2-A interaction and RAB27A–MUNC13-4 interaction, but it does not affect the RAB27A–melanophilin (MLPH)/SLAC2-A interaction that is crucial for skin and hair pigmentation. We conclude that disruption of the RAB27A–MUNC13-4 interaction in cytotoxic lymphocytes leads to the HLH predisposition of the GS-2 patient with the Val143Ala mutation. Finally, we include a review of GS-2 sine albinism cases reported in the literature, summarizing their genetic and clinical characteristics.

First record of albinism in the paca Cuniculus paca (Rodentia, Cuniculidae) in southeast Mexico

Even though there have been reports of anomalies in the colouration of several species of neotropical mammals, these events are considered to be rare within natural populations. Here we report the first case of albinism in the paca (Cuniculus paca). During the months of June and July 2017, we obtained several images of an adult albino male using camera traps in the region of Sierra Norte in Oaxaca, in the southeast of Mexico, in a medium subdeciduous forest.

Hinduism Theological Study On Albinism Phenomenon

<p>This study aims to investigate: 1) the views of the <em>Pucang</em> community about albinism, 2) the inheritance pattern of albinism, 3) preventive efforts to prevent the spread of albinism, and 4) the Hinduism theology related to albinism among the <em>Pucang</em> community. The methods used in data collection were interviews, observation, documentation, and literature review. The collected data was analyzed descriptively. There are 9 cases of people with albinism in <em>Desa Adat Pucang</em>. Albino sufferers were born from parents who are close relatives. The people of <em>Desa Adat Pucang</em> believe that albino sufferers were descended from <em>Bethara Pancering Akasa</em> and assume that albino sufferers might be sacrificed as <em>caru</em>(ceremonial offering) during the <em>Panca Bali Krama</em> and <em>Eka Dasa Ludra</em> ceremonies in Besakih Temple. Preventive efforts that can be done to decrease the number of albinism cases are including: 1) avoiding close-family marriages, 2) making ‘<em>awig-awig’ </em>(rules and regulations) which contains an appeal that close-family marriages are unfortunate and, 3) genetic counseling for couples who will be married and have been married , and 4) expanding the social interaction and education of <em>Desa Adat Pucang</em> in order to broaden the insights about albinism.</p>

First report of complete albinism in Mazama americana (Erxleben, 1777) in the Biological Reserve of Tapirapé, Oriental Amazon, Brazil

Albinism is a genetic condition that results in total hypopigmentation of the eyes, fur, skin, hair, scales, and feathers of an organism. Albinism might result in a selective disadvantage for affected animals. Cases of albinism have been previously recorded in Neotropical vertebrates, such as reptiles, mammals, birds, and fish. However, observing albinism in a wild population is still considered to be a rare event. This paper reports a unique case of complete albinism in a red-brocket deer (Mazama americana) living in the Brazilian Amazon rainforest. The individual was observed within the Biological Reserve of Pará State, one of the most deforested regions of the Brazilian Amazon. The survival of the albino red-brocket deer in the wild can be related to mechanisms of apostatic selection, which theorize the survival of individual prey animals whose mutations make them less likely to be attacked by predators. In other words, the more different a prey animal is from others, the less likely it will be targeted by predators. The high abundance prey animals within the Biological Reserve of Tapirapé seems to support this prediction. This report exemplifies the importance of monitoring the biodiversity and promoting the conservation of favorable habitats to support species multiplicity in highly fragmented regions, as in the Brazilian Amazon.

FIRST RECORD OF PIEBALDISM IN Lycalopex gymnocercus (CARNIVORA, CANIDAE) IN THE PAMPA BIOME, SOUTHERN BRAZIL

Several cases of albinism, melanism, leucism and piebaldism in mammals have already been reported in the scientific literature. Such genetic mutations are important to be reported, because it can affect the ecological interactions of Pampas Fox individuals with piebaldism, such as predation and mating. Here we report the first case of piebaldism for the Pampas Fox Lycalopex gymnocercus (Carnivora, Canidae) , observed in a rural area within the municipality of Bage, Rio Grande do Sul state, Southern Brazil.

Acoustical and morphological comparisons between albino and normally-pigmented Jamaican fruit bats (Artibeus jamaicensis)

Although rare, hypopigmentary disorders have been observed in many vertebrate species. These disorders include albinism, leucism, and piebaldism, and can be differentiated based on the pattern and degree of lack of pigmentation. For many species, these disorders persist in nature, suggesting that affected animals can survive and potentially reproduce. Here we report a case of albinism in a Jamaican fruit bat (Artibeus jamaicensis) captured from a cave dwelling in Cuba. In addition to describing this albino individual's morphological characteristics, we recorded acoustical parameters of echolocation calls during foraging in a flight chamber. We found that the albino individual emits high-frequency multi-harmonic calls with short durations, which are characteristic of this species and other phyllostomid bats. We discuss potential acoustical adaptations in albino bats that could facilitate their survival and suggest future approaches to studying these unique animals.

A case of complete albinism in the catfish Cambeva guareiensis (Siluriformes: Trichomycteridae)

Abstract: Albinism has been recorded in Neotropical freshwater fishes, mostly for nocturnal or cryptobiotic species. We report herein a case of albinism in the catfish Cambeva guareiensis (Trichomycteridae) from the Guareí River basin, Upper Paraná River basin, southeastern Brazil. The albino fish was caught with seven individuals with typical color pattern of the species. The features of the albino fish in life and shortly after preservation are described and illustrated.

First report of partial albinism in the blue lobster Panulirus inflatus (Bouvier, 1895) from the Mexican Pacific (Crustacea, Decapoda, Palinuridae)

The first case of partial albinism registered in the Mexican Pacific by the blue lobster Panulirusinflatus is presented. The specimen was collected on the southern coast of Jalisco know as Punta “El Estrecho”. It constitutes one of the few registered cases of albinism in invertebrates from the Eastern Tropical Pacific.