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About 1,110 results

ALLMedicine™ Albinism Center

Research & Reviews  421 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Jan 19th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jan 19th, 2022 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

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...

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Clinicaltrials.gov  6 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Jan 19th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jan 19th, 2022 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

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...

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
https://clinicaltrials.gov/ct2/show/NCT00808106

Jan 6th, 2020 - Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major de...

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

Updates and Advances in Basal Cell Carcinoma
https://www.onclive.com/view/updates-and-advances-in-basal-cell-carcinoma

Dec 18th, 2020 - Although basal cell carcinoma (BCC) generally has a good prognosis, improving tolerance to targeted Hedgehog (HH) inhibitors and optimizing second-line treatment with immune checkpoint inhibitors are important for the small subset of patients who ...

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 ...

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Patient Education  5 results see all →