Results 81 to 90 of about 7,578 (154)

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

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

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

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

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific Reports, 2017
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes.
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self   +17 more
doaj   +1 more source

Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)

Pesquisa Veterinária Brasileira
: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same.
Pedro N. Bernardino, Aline F.A. Martins, José D. Barbosa, Ana L. Schild, Maria Cecília F. Damé, Alexandre S. Borges, José P. Oliveira-Filho   +6 more
doaj   +1 more source

Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.

, 2015
* A novel mutation.Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.
Ning Fan (731019), Lu Liu (171341), Xuyang Liu (310954), Zhi Wang (193655), Yun Wang (32846), Mengping Chen (731018), Jie Yang (121778), Ying Wang (11406)   +7 more
core   +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

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