Albinism

Kinnear, P E; Jay, Barrie; Witkop, Carl J.

doi:10.1016/0039-6257(85)90077-3

Cited by 181 publications

(94 citation statements)

References 176 publications

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“…A number of retinal diseases such as Leber congenital amaurosis (18), Norrie's disease (38,39), microphthalmia (16), and albinism (11,23) result in blindness or severe impairment of visual function apparent from birth. A number of genes implicated in these diseases have been identified.…”

mentioning

confidence: 99%

Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction

Surace

Auricchio

Reich

et al. 2003

J Virol

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The development of fetal ocular gene transfer may be useful as a therapeutic tool for the prevention of retinal genetic disorders with congenital or early clinical manifestations. In this study we explored the neural progenitor transduction patterns of adeno-associated virus (AAV) vectors following delivery to the developing retina. Recombinant vectors with the same genome carrying the enhanced green fluorescent protein (EGFP) transgene packaged in capsids of differing serotypes (serotypes 1, 2, and 5, termed AAV2/1, AAV2/2, and AAV2/5, respectively) were created. Delivery of the AAV vectors during early retinal development resulted in efficient and stable transduction of retinal progenitors. Vector surface proteins and the developmental status of the retina profoundly affected viral tropism and transgene distribution. The procedure is not detrimental to retinal development and function and therefore provides a safe delivery vehicle for potential therapeutic applications and a means of assessing the mechanisms of retina development and disease.

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mentioning

confidence: 99%

Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction

Surace

Auricchio

Reich

et al. 2003

J Virol

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“…Albinism is the term applied to the group of genetically determined disorders of the melanin pigmentary system. All forms of albinism are characterized by nystagmus, hypoplasia of the fovea, photophobia and decreased visual acuity (Kinnear et al 1985). Different reasons could be attributed to changes in coloration like the one reported here.…”

Section: Introductionmentioning

confidence: 79%

First record of an anomalously colored franciscana dolphin, Pontoporia blainvillei

Cremer

Sartori

Schulze

et al. 2014

An. Acad. Bras. Ciênc.

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On October 2011, a newborn franciscana dolphin with an anomalously coloration was sighted in Babitonga Bay, southern Brazil. The calf was totally white. Besides the potential mother and newborn, the group also had the presence of another adult, who always was swimming behind the pair. Both adults had the typical coloration of the species, with the back in grayish brown. The group, composed by the white franciscana calf, his pontential mother and one more adult, was reported in five occasions. The group was always in the same area where it was first recorded and showed the same position during swimming. Between first and last sighting of the white calf (113 days) the color has not changed. This is the first case of a white franciscana dolphin. This coloration has never been reported despite the high number of dead franciscanas recovered each year along the distribution of the species, resulting from accidental capture in fishing nets. This fact leads us to believe that this is a very rare characteristic for this species. We considered the possibility that this franciscana could be an albino dolphin.

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“…Due to hereditary causes that resulted in an enzyme disorder that control the metabolism of melanin, lack of pigmentation happened in the cells and this case is known as albinism (Kinnear et al, 1985). The incidence of albinism can be: complete or total albinism, which is due to a lack of skin pigmentation; incomplete, where absence of melanin pigments from parts of the fish body; imperfect, which is recognized by reduced or diluted pigmentation from skin and partial albinism known when pigmentation that is reduced or absent from localized portions of skin (Berdeen and Otis, 2011).…”

Section: Introductionmentioning

confidence: 99%

On Some Cases of Fish Anomalies in Fishes from the Port of Jubail, Saudi Arabia, Arabian Gulf

Jawad

Ibrahim²

2017

ijms

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Cases of deformities in the operculum, dorsal fin and cases of albinism, color disorder and hyperostosis were observed and examined in fish samples collected from the Jubail City, Saudi Arabia. An attempt was made in this study to find a possible relationship between these anomalies and several types of pollutants presents in the environment. The assessment of abnormalities was carried out by their diagnosis morphologically. All cases were not fatal as they occurred in adult individuals. The possible causes for such deformities as well as the suitability of this kind of study for environmental monitoring are discussed. Further studies are needed to relate specific pollutants with the observed types of deformities.

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Albinism

Cited by 181 publications

References 176 publications

Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction

Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction

First record of an anomalously colored franciscana dolphin, Pontoporia blainvillei

On Some Cases of Fish Anomalies in Fishes from the Port of Jubail, Saudi Arabia, Arabian Gulf

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