Results 21 to 30 of about 6,439 (248)

[Oculocutaneous albinism]. [PDF]

Journal francais d'ophtalmologie, 2013
Review on Oculocutaneous Albinism, with data on clinics, and the genes involved.
A, Sauer, C, Speeg-Schatz
  +7 more sources

Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism.

Oman J Ophthalmol
Kumar N, Bazgain K, Singh SR, Katoch D.
europepmc   +2 more sources

Stacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique

American Journal of Ophthalmology Case Reports, 2023
Purpose: Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular insertion of two aniridia rings.
David Ethan Rabinovitch, Ralf Buhrmann, Devesh K. Varma   +2 more
doaj   +1 more source

Oculocutaneous albinism type 1B [PDF]

, 2020
INSERM
openalex   +2 more sources

Retinal cone photoreceptors of the deer mouse Peromyscus maniculatus : development, topography, opsin expression and spectral tuning [PDF]

, 2013
A quantitative analysis of photoreceptor properties was performed in the retina of the nocturnal deer mouse, Peromyscus maniculatus, using pigmented (wildtype) and albino animals.
Arbogast, Patrick, Glösmann, Martin, Peichl, Leo   +2 more
core   +4 more sources

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

Journal of Medical Case Reports, 2008
Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism.
Bakare Muideen O, Ikegwuonu Nkeiruka N
doaj   +1 more source

Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report

Journal of Medical Case Reports, 2021
Background Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any ...
Benoît Mbiya Mukinayi, John Mpoyi Kalenda, Didier Kalombo Kalenda, Ghislain Disashi Tumba, Béatrice Gulbis   +4 more
doaj   +1 more source

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases. [PDF]

, 2012
Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed.
A Yakubu, AN Okoro, CJ Witkop, DD Datubo-Brown, DP Lookingbill, E Berger, Erasmus Kamugisha, ES Hong, F Kagore, G Summers, GA Alexander, Geofrey Giiti, GM Edington, Hyasinta Jaka, J Luande, Japhet M Gilyoma, JG Kromberg, Joseph B Mabula, K Glanz, KO Opara, M Terenziani, Mabula D Mchembe, ME Asuquo, ME Asuquo, Nestory Masalu, Peter Rambau, Phillipo L Chalya, PL Chalya, SA Ademiluyi, SM Hutton, Ssentongo Robert, TL Diepgen, VS Ramalingam, W Fu   +33 more
core   +3 more sources

The experience of people with oculocutaneous albinism

Health SA Gesondheid: Journal of Interdisciplinary Health Sciences, 2012
This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes.
Mmuso B.J. Pooe- Monyemore, Thandisizwe R. Mavundla, Arnold L. Christianson   +2 more
doaj   +3 more sources