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About 1,123 results

ALLMedicine™ Albinism Center

Research & Reviews  426 results

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albini...
https://doi.org/10.1167/iovs.63.1.19
Investigative Ophthalmology & Visual Science; Kruijt CC, Gradstein L et. al.

Jan 15th, 2022 - The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albin...

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian fa...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722050
BMC Medical Genomics; Dhangar S, Panchal P et. al.

Jan 5th, 2022 - Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is...

Oculocutaneous Albinism.
https://doi.org/10.1001/jamaophthalmol.2021.4068
JAMA Ophthalmology; Bezerra Castaldelli G, Bezerra Castaldelli AJ et. al.

Dec 16th, 2021 - Oculocutaneous Albinism.|2021|Bezerra Castaldelli G,Bezerra Castaldelli AJ,Anderson Castaldelli V,|

Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient wit...
https://doi.org/10.1111/pcmr.13024
Pigment Cell & Melanoma Research; Saito T, Okamura K et. al.

Dec 7th, 2021 - Oculocutaneous albinism (OCA) 6 is a non-syndromic type of OCA that has distinct ocular symptoms and variable cutaneous hypopigmentation. The causative gene of OCA6 is SLC24A5, which encodes NCKX5, a K+ -dependent Na+ /Ca2+ exchanger 5. NCKX5 is i...

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Clinicaltrials.gov  5 results

NGS Panel of Incomplete Forms of Ocular Albinism
https://clinicaltrials.gov/ct2/show/NCT04495218

Aug 30th, 2021 - Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopi...

Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
https://clinicaltrials.gov/ct2/show/NCT04658381

Mar 29th, 2021 - Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes. Ophthalmological manifestations are a constant feature of this disease. Albinism is believed...

The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
https://clinicaltrials.gov/ct2/show/NCT02200263

Dec 28th, 2018 - Ocular and oculocutaneous albinism represent a spectrum of disorders with absent or significantly diminished amount of melanin either across different body tissues - skin, hair, eye (Oculocutaneous Albinism 1 and 2), or exclusively in eye tissues ...

Dermoscopy in Diagnosis of Pigmentary Skin Lesions
https://clinicaltrials.gov/ct2/show/NCT03542539

May 31st, 2018 - Skin color affected by many agents as it is determined by several chromophores such as melanin, hemoglobin and carotenoids. Among these, melanin is the main one responsible for different skin colors. Melanin is produced by special skin cells calle...

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001596

Oct 16th, 2017 - Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism and a platelet storage pool defect. The most serious complication of this disorder, which is common in Puerto Rico, is pulmonary fibrosis, ...

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News  12 results

Albinism awareness goes global in dermatologists’ nonprofit work
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists?channel=27980
Kari Oakes

Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446_1

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

New Immune Disease Cripples White Cells
https://www.medpagetoday.com/genetics/generalgenetics/39756

Jun 11th, 2013 - Action Points A newly-described immunodeficiency syndrome of neutrophil defects, bone marrow fibrosis, nephromegaly, and life-threatening infections arises from a genetic mutation that impairs movement of proteins within cells. Note that although ...

Stem Cell, Gene Therapies for Retinitis Pigmentosa in Mice
https://www.medscape.com/viewarticle/777261

Jan 7th, 2013 - Researchers at Columbia University have tested stem cell and gene therapies in mouse models of retinitis pigmentosa (RP) with promising results, according to 2 studies published in 2012. Whether stem cell or gene therapy is the optimal approach fo...

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Patient Education  6 results see all →