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About 1,385 results

ALLMedicine™ Albinism Center

Research & Reviews  513 results

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained ...
https://doi.org/10.1016/j.ejmg.2022.104594
European Journal of Medical Genetics; Aquaron R, Lasseaux E et. al.

Aug 15th, 2022 - Oculocutaneous albinism type 2 (OCA2) is a pigmentation disorder characterized by hypopigmentation of the skin, hair and eyes and ocular features. Sickle cell disease (SCD) is caused either by homozygosity of the beta globin gene variant c.20A > T...

Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation.
https://doi.org/10.3928/23258160-20220713-03
Ophthalmic Surgery, Lasers & Imaging Retina; Nanda T, Coombs A et. al.

Aug 12th, 2022 - This case series details macular findings in three female siblings who were found to be carriers of a previously unreported splice mutation in GPR143 (X-linked ocular albinism [OA1]). Presumed lyonization is responsible for both the subtle and var...

Evolutionarily conserved role of hps1 in melanin production and blood coagulation in me...
https://doi.org/10.1093/g3journal/jkac204
G3 (Bethesda, Md.); Iwanami N, Ozaki Y et. al.

Aug 10th, 2022 - Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by albinism, visual impairment, and blood platelet dysfunction. One of the genes responsible for Hermansky-Pudlak syndrome, hps1, regulates organelle biogenesis and thus pla...

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

Aug 9th, 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 ...

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Clinicaltrials.gov  18 results

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

Aug 9th, 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 →