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About 1,378 results

ALLMedicine™ Albinism Center

Research & Reviews  510 results

Cell Collection to Study Eye Diseases
https://clinicaltrials.gov/ct2/show/NCT01432847

Aug 5th, 2022 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

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

Aug 4th, 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 ...

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338640
Orphanet Journal of Rare Diseases; Santos Malave G, Izquierdo NJ et. al.

Jul 31st, 2022 - The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients ar...

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism.
https://doi.org/10.1111/1346-8138.16528
The Journal of Dermatology; Maas EJ, Wallingford CK et. al.

Jul 28th, 2022 - Oculocutaneous albinism (OCA) is a rare condition characterized by hypopigmentation. A female proband and her sister, both with primary amelanotic/hypopigmented melanoma, underwent three-dimensional total-body photography and dermoscopy. Both sist...

Pigmented Long-Evans rats demonstrate better visual ability than albino Wistar rats in ...
https://doi.org/10.1097/WNR.0000000000001815
Neuroreport Li S, Li H et. al.

Jul 27th, 2022 - Albino people are known to have vision deficit. Albino animals are shown to have abnormal connectivity and malformation of the visual system. However, not many studies have revealed visual impairment of albino animals in the level of perception. T...

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Clinicaltrials.gov  18 results

Cell Collection to Study Eye Diseases
https://clinicaltrials.gov/ct2/show/NCT01432847

Aug 5th, 2022 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

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

Aug 4th, 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

Jul 21st, 2022 - 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 and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Jul 7th, 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 ...

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...

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News  17 results

Researchers Pinpoint Causes of Foveal Hypoplasia
https://www.medscape.com/viewarticle/972135

Apr 14th, 2022 - Newly published insights into the causes of foveal hypoplasia may allow clinicians to make quicker and more accurate diagnoses of the underlying conditions, in some cases preventing complications. Using genetic tests and optical coherence tomograp...

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.

Albinism awareness goes global in dermatologists’ nonprofit work
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists
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...

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Patient Education  6 results see all →