Results 71 to 80 of about 7,863 (174)

Hermansky-Pudlak syndrome: A case report

The Journal of Association of Chest Physicians, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin).
R Vani, S Keertihvasan, K Anbananthan
doaj   +1 more source

Teenagers with oculocutaneous Albinism in Polokwane : their self-esteem and perceptions of societal attitudes [PDF]

, 2007
Thesis (M.A. (Clinical Psychology)) -- University of Limpopo, 2007This study explored the self-esteem of teenagers with oculocutaneous albinism and how they perceive societal attitudes towards them.
Selepe, Dorothy Mabore
core  

Visual deficits in Nepalese patients with oculocutaneous albinism.

, 2020
Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism ...
Pokharel, Amrit, Khanal, Safal, Kandel, Himal   +2 more
core   +1 more source

Dermatopglyphs in Oculocutaneous Albinism

The Anthropologist, 2006
Oculocutaneous albinism can be defined as a syndrome characterised by inherited lack of pigmentation in skin, hair and eyes, along with weak visual acuity, nystagmus, photophobia and other health complications. 13 individuals were identified to be affected with OCA in 9 families from the population of Kolkata and Howrah cities.
Sudip Datta Banik, D.P. Mukherjee
openaire   +1 more source

Chédiak-Higashi syndrome: presentation of seven cases

São Paulo Medical Journal
CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism.
Eugénia Maria Grilo Carnide, Cristina Miuki Abe Jacob, Antonio Carlos Pastorino, Raquel Bellinati-Pires, Maria Beatriz Guimarães Costa, Anete Sevciovic Grumach   +5 more
doaj   +1 more source

Two Cases of Foveal Hypoplasia with Different Etiologies

Beyoglu Eye Journal, 2017
In this report the optical coherence tomography (OCT) findings of 2 patients with foveal hypoplasia are presented. One patient had oculocutaneous albinism, which is a frequent cause of foveal hypoplasia, and had decreased visual acuity in both eyes.
Abdullah Ozkaya, Hatice Nur Tarakcioglu
doaj   +1 more source

Malignant Melanoma in a Patient with Oculocutaneous Albinism

, 2000
Background: Sun-induced malignancies (basal cell and squamous cell carcinomas) are common in oculocutaneous albinism, however, the incidence of malignant melanoma is a topic of controversy.
David McCready, Catherine J. Streutker, Lynn From, Kowichi Jimbow   +3 more
core   +1 more source

Albinism: Cultural and Ethnographic Perspectives in a Southern City [PDF]

, 2018
This research is focused on the lived experience of individuals with albinism, both OCA (oculocutaneous albinism) and OA (ocular albinism). The cultural aspects of albinism are what will be primarily looked at during this study, as it is what the ...
Green, Tabitha C
core   +1 more source

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

, 2019
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme.
Noureddine, Baha', Zahreddine, Hala, Shakar, Nadine, Zalloua, Pierre, Zahed, Laila, Haddad, Fadi, Rebeiz, Nelly   +6 more
core   +1 more source

Albinism in Africa as a public health issue

BMC Public Health, 2006
Background Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa.
Hong Esther S, Zeeb Hajo, Repacholi Michael H   +2 more
doaj   +1 more source