Results 81 to 90 of about 7,886 (197)

Oculocutaneous albinism [PDF]

Archives of Disease in Childhood, 1999
S, Biswas, I C, Lloyd
openaire   +2 more sources

Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino

Indian Journal of Dermatology, 2009
A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya, Sinnakirouchenan Ramapriya, Thappa Devinder   +2 more
doaj  

Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal

Asian Journal of Medical Sciences, 2017
Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.
Arjun M Bhari
doaj   +1 more source

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  

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Biomedicines
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov   +11 more
doaj   +1 more source

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