Results 101 to 110 of about 3,749 (193)

Eye Movement Changes in a Case of Oculocutaneous albinism

, 1994
Electronystagmography is an important method for differential diagnosis of central dizzness and peripherial dizzness. The study of eye movement is necessary for balance test.
이원상
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Severe Bleeding With Subclinical Oculocutaneous Albinism in a Patient With a Novel HPS6 Missense Variant

, 2018
Heřmanský–Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6)
Han, Chen G., Moka, Nagabhishek, Malicdan, May Christine V., Chen, Dong, Haroutunian, Sara G., Introne, Wendy J., Macnamara, Ellen, Huryn, Laryssa A., Gochuico, Bernadette R., Gahl, William A., Krishnan, Koyamangalath, Coon, Lea M., O\u27Brien, Kevin J., Majerus, Julie A.   +13 more
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A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Development, safety and efficacy evaluation of actinic damage retarding nano-pharmaceutical treatments in oculocutaneous albinism

, 2019
Introduction: There are at least 17 000 Persons living with albinism (PLWA) in Zimbabwe. Oculocutaneous albinism (OCA) is a congenital amelanistic pigmentation disorder that affects all known vertebrates and has no known cure. Melanogenesis is the body’s
Chifamba, Jephat
core   +1 more source

Photoprotective behaviours amongst persons with albinism in Uyo, Nigeria

JEADV Clinical Practice
Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop ...
Edesiri E. Ighorodje, Charles N. Nga, Chinyere C. Atansi, Omolara Y. Ukpong, Morolayo O. Fabiyi, Udeme‐Abasi U. Nelson   +5 more
doaj   +1 more source

Oculocutaneous Albinism in Embryonic Development

, 2020
Oculocutaneous Albinism (OCA) is a genetic condition in which individuals are born without pigmentation. OCA is usually caused by an inherited genetic mutation. Patients are not able to produce a normal amount of melanin that is responsible for eye, skin,
Oxford, Julia, Tornello, Ian, Edralin, Shadee K.R., Edwards, Madison, Small, Dana A., Williams, Ryan   +5 more
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Oculocutaneous Albinism [PDF]

, 2020
openaire   +3 more sources

Oculocutaneous albinism in a Puerto Rican patient. [PDF]

JAAD Case Rep, 2023
Bindernagel R, Chavda K.
europepmc   +1 more source

Spitz nevus in a patient with oculocutaneous albinism: dermoscopic and histopathologic correlation. [PDF]

An Bras Dermatol
Maya JAT, Ishioka P, Oliveira LRG, Marçon CR.   +3 more
europepmc   +1 more source

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge. [PDF]

Genet Mol Biol, 2023
Moura P, Cardoso-Dos-Santos AC, Schuler-Faccini L.   +2 more
europepmc   +1 more source