About 1,125 results

ALLMedicine™ Albinism Center

Research & Reviews  422 results

Neurodevelopmental Profile in Children Affected by Ocular Albinism.
Neuropediatrics Galli J, Loi E et. al.

Jul 31st, 2021 - The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. The design of the study involves a retrospective longitudinal observational case series. W...

Clinical phenocopies of albinism.
Journal of AAPOS : the Official Publication of the Americ... Dumitrescu AV, Pfeifer WL et. al.

Jul 20th, 2021 - To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis. The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of ...

Third-generation sequencing and metabolome analysis reveal candidate genes and metaboli...
BMC Genomics; Meng X, Xu J et. al.

Jul 18th, 2021 - Most plants rely on photosynthesis; therefore, albinism in plants with leaves that are white instead of green causes slow growth, dwarfing, and even death. Although albinism has been characterized in annual model plants, little is known about albi...

Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
Ophthalmic Genetics; Rafei MA, Harikrishna B et. al.

Jul 16th, 2021 - To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl. A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older sibling with similar findings had died at...

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated ...
Ophthalmic Genetics; Dumitrescu AV, Tran J et. al.

Jul 13th, 2021 - Purpose: To correlate clinical features, molecular genetic findings, and visual acuity in a cohort of patients clinically diagnosed with oculocutaneous albinism.Design: Retrospective chart reviewMethods: 58 charts met the inclusion criteria. Clini...

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Clinicaltrials.gov  10 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Mar 26th, 2020 - 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

Feb 25th, 2020 - 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 ...

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

Oct 31st, 2018 - 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...

Dermoscopy in Diagnosis of Pigmentary Skin Lesions

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...

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Feb 28th, 2018 - Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. Pulmonary fibrosis causes short...

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News  12 results

Albinism awareness goes global in dermatologists’ nonprofit work
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

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...

Driving With Low Vision

Jan 21st, 2014 - The Process and Privilege of Driving Great importance is placed on driving in modern society. To be denied the right to drive deprives individuals of their vocations and avocations and their freedom of mobility, as well as placing severe limits on...

New Immune Disease Cripples White Cells

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  6 results see all →