Albinism

12/01/2022 - "To advance our knowledge, we developed a novel retinal organoid model of albinism, and characterized the development and outgrowth of retinal ganglion cells affected during albinism as a model for future studies. "
08/23/2022 - "In this bi-center study, the retinal GCLTQ was determined (OCT Spectralis, Heidelberg Engineering, Heidelberg, Germany) for healthy controls (n = 5, 10 eyes) vs. participants with nystagmus and albinism (Nalbinism, n = 8, 15 eyes), and with nystagmus of other origins (Nother, n = 11, 17 eyes). "
01/01/2019 - "This study correlates retinal electrophysiology, visual acuity and optical coherence tomography (OCT) anatomy in albinism patients and compares with age-similar controls. "
10/01/2015 - "This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. "
02/26/2015 - "In this study we outlined the time course of retinal development in children with albinism. "

11/01/2014 - "Levodopa, in the doses used in this trial and for the time course of administration, did not improve visual acuity in subjects with albinism."
11/01/2014 - "This study examines the safety and effectiveness of levodopa on best-corrected visual acuity in human subjects with albinism. "
11/01/2014 - "Does levodopa improve vision in albinism? "
01/01/2019 - "In this study, we demonstrate for the first time that post-natal L-DOPA supplementation can rescue retinal development, morphology and visual function in a murine model of human albinism, but only if administered from birth or 15 days post-natal age."
10/11/2023 - "Human equivalent doses of L-DOPA rescues retinal morphology and visual function in a murine model of albinism."

10/11/2023 - "Our results demonstrate that oral L-DOPA/Carbidopa supplementation at human equivalent doses during the postnatal critical period of retinal neuroplasticity can rescue visual retinal morphology and retinal function, via PEDF upregulation and modulation of retinal synaptogenesis, providing a further step towards developing an effective treatment for albinism patients."
11/01/2014 - "Subjects with albinism were randomly assigned to one of three treatment arms: levodopa 0.76 mg/kg with 25% carbidopa, levodopa 0.51 mg/kg with 25% carbidopa, or placebo and followed for 20 weeks, with best-corrected visual acuity measured at enrollment, and at weeks 5, 10, 15, and 20 after enrollment. "

04/01/2023 - " and memantine, possibly also carbonic anhydrase inhibitors, are effective in treating IIN, nystagmus in albinism and sensory nystagmus. "

04/01/2023 - " and memantine, possibly also carbonic anhydrase inhibitors, are effective in treating IIN, nystagmus in albinism and sensory nystagmus. "

06/01/2008 - "This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a). "
09/01/1999 - "This defines a population of albino patients who are tyrosinase-gene- and P-gene-negative and who thus may represent a good study group for searching for additional genes associated with albinism."
04/30/1990 - "In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c). "
01/01/2022 - "We focused on TYR, the gene encoding tyrosinase, and found that a high-frequency promoter variant, TYR c.-301C>T [rs4547091], modulates the penetrance of a prevalent, albinism-associated missense change, TYR c.1205G>A (p.Arg402Gln) [rs1126809]. "
11/15/2018 - "Most of the founders exhibited severe phenotypes against each target gene (tyrosinase, pax6, tbx5); notably, all tyrosinase Cas9 RNP-injected embryos showed complete albinism. "

01/01/1996 - "The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity. "
10/15/2023 - "It demonstrated that deficiency of ustilaginoidin biosynthesis is the cause of albinism for RFS albino strain LN02, and V. virens should be a non-melanin-producing fungus. "
10/01/2023 - "Chiasmal misrouting, once believed to be pathognomonic for albinism, has been reported in cases of INS, independent of melanin pathway disruption. "
01/01/2023 - "Native American ancestry had the highest effect on pigmentation and reduced it by more than 20 melanin units, while the European mutations in the genes SLC24A5 and SLC45A2 and an African gene variant for albinism only contributed 5, 4 and 8 melanin units, respectively. "
01/01/2023 - "Reduced or absence of melanin poses physical, social, and psychological challenges to individuals with albinism. "

01/01/2022 - "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism."
01/01/2017 - "The acetylation levels at 468 sites were significantly altered across the three developmental stages during periodic albinism; the corresponding proteins were associated with a variety of biological processes. "
11/01/2016 - "Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach."
04/01/2016 - "The large number of differentially expressed proteins identified here should be highly useful in further elucidating the mechanisms underlying albinism in sea cucumber. "
08/02/2011 - "In this work, the proteomic analysis revealed that some proteins may have important roles in the molecular events involved in periodic albinism of White leaf No. 1 and identificated many attractive candidates for further investigation. "

03/01/2021 - "In conclusion, our results provide new information to guide further studies of the extensive metabolic reprogramming events caused by albinism in tea plants."
04/12/2023 - "Periodic albinism is precisely regulated by a complex gene network that leads to metabolic differences and enhances the nutritional value of tea leaves. "
01/10/2023 - "Genome-wide identification of RNA editing sites in chloroplast transcripts and multiple organellar RNA editing factors in tea plant (Camellia sinensis L.): Insights into the albinism mechanism of tea leaves."
01/01/2023 - "The results showed that tea leaves planted in Shouguang had varying degrees of yellowing disease and albinism; the pigment content in both varieties was significantly lower when planted in Shouguang compared with Rizhao. "
01/01/2023 - "In tea plantations with high-pH (pH > 6.5) in Northern China, tea plants are prone to yellowing disease, albinism, and reductions in components that contribute to plant quality, which affect the scale and rate of tea plantation development in Northern China. "

01/01/2017 - "Difficulties with producing these enzymes in pure form have hampered the understanding of their activity and the effect of mutations that cause albinism and pigmentation disorders. "
01/01/2019 - "All albinism is caused by genetic mutations in a group of diverse genes including enzymes, transporters, G-protein coupled receptor. "
01/01/2011 - "Albinism is caused by defective or absent tyrosinase, an enzyme necessary for melanogenesis. "
12/17/2003 - "Occulocutaneous albinism is caused by mutations in the gene encoding the enzyme tyrosinase. "
07/01/2000 - "A point mutation of tyrosinase is sufficient to give rise to a nonfunctional enzyme, leading to albinism and associated decreased visual acuity. "

12/01/2004 - "Efficacy of spectacles in persons with albinism."
09/01/2019 - "Children with albinism benefits from reading spectacles due to a combination of close habitual reading distance and a poor accommodation. "

11/30/2023 - "The therapeutic options in albinism are briefly described, opening this field for future therapies."
01/01/2004 - "Whereas with congenital disorders, such as albinism and phenylketonuria, no causal therapy has been established up to now, several treatment options for acquired hypopigmentary disorders have been investigated. "
11/01/2021 - "From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects. "
03/01/2021 - "Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. "

01/01/2023 - "In albinism, aberrations in the ipsi-/contralateral retinal ganglion cell (RGC) ratio compromise the functional integrity of the binocular circuit. "
01/01/2020 - "Genome-wide association studies and analysis of strain-specific variants revealed genetic loci associated with several goldfish phenotypes, including dorsal fin loss, long-tail, telescope-eye, albinism, and heart-shaped tail. "
07/01/2014 - "Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. "
12/01/2013 - "Children with albinism showed higher crowding ratios in their poorer eye and under binocular viewing conditions than children with normal vision. "
12/01/2013 - "To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). "

01/01/2020 - "Albinism group showed increased white scotopic, photopic, and 30-Hz electroretinograms in 17 children (skin electrode to Great Ormond Street Hospital protocol), while it showed reduced cone and 30-Hz electroretinograms in 5 children (skin electrode to International Society for Clinical Electrophysiology of Vision protocol). "
06/05/2019 - "Monocular VEPs were recorded and analyzed from three electrodes (O1, Oz, and O2 referred to Fz) from 16 children with albinism without nystagmus. "
10/01/2005 - "Monocular VEPs were recorded in 16 subjects with albinism and in 16 controls from occipital electrodes to pattern-onset stimulation in 1 of 10 adjacent rectangular apertures along the horizontal meridian covering a total of +/-27 degrees. "
01/01/1994 - "We conclude that use of a diffuse flash stimulus and a bipolar electrode derivation that compares differences between the left and right occipital hemispheres will clearly differentiate albinism from all other conditions, making it especially useful in a pediatric population."

01/01/1996 - "Having rejected other possible causes that can favor the appearance of basal cell carcinoma during childhood (basal cell nevus syndrome, nevus sebaceus, albinism, etc.), we believe that this case should be added to the five previously reported in the literature as basal cell carcinoma developing at an early age in cranial radiation portals with megavoltage radiotherapy. "
05/01/2008 - "Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy. "
11/01/2007 - "In addition to occurring in children with albinism, Bazex syndrome, basal cell carcinoma nevus syndrome, nevus sebaceus, radiotherapy-treated cancers, solid organ transplants, and xeroderma pigmentosum, childhood onset basal cell carcinoma has also occurred, albeit less commonly, de novo. "