Results 21 to 30 of about 7,578 (154)

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

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [PDF]

, 2017
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
V. Jagannathan, M. Caduff, A. Bauer, Caduff, M, Bauer, Anina, Jagannathan, Vidhya, Leeb, Tosso, T. Leeb   +7 more
core   +4 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.
Rambau, Peter, Kamugisha, Erasmus, Nestory Masalu, Peter Rambau, Gilyoma, Japhet M, Phillipo L Chalya, Joseph B Mabula, Jaka, H., Giiti, G, Ssentongo Robert, Mchembe, Mabula D, Geofrey Giiti, Jaka, Hyasinta, Mabula D Mchembe, Masalu, N., Giiti, Geofrey, Robert, Ssentongo, Rambau, P., Erasmus Kamugisha, Robert, S., Chalya, Phillipo L, Masalu, Nestory, Gilyoma, J.M, Hyasinta Jaka, Mabula, J.B, Chalya, P.L, Japhet M Gilyoma, Kamugisha, E., Mabula, Joseph B, Mchembe, M.D   +29 more
core   +2 more sources

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

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells [PDF]

, 2008
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes.
Bennett, DC, Venturi C, Palmigiano, A, Schiaffino, MV, Piccirillo, R, Altimare D., Rotondo G., Tacchetti, C, Marigo, V, Bagnato P., Coppola M., Rotondo, G, Venturi, C, Sviderskaya, EV, Palmisano I., Palmigiano A., Altimare D, Bagnato, P, Marigo V., Surace, EM, Altimare, D, Tacchetti C, Innamorati G., Venturi C., Surace E. M., Palmisano I, Rotondo G, INNAMORATI, Giulio, BALLABIO, ANDREA, Schiaffino M. V., Sviderskaya E. V., Palmigiano A, Innamorati G, SURACE, Enrico Maria, Sviderskaya EV, Piccirillo R, Bagnato P, Ballabio A., Incerti B, Piccirillo R., Tacchetti C., Schiaffino MV, Coppola, M, Incerti, B, Bennett DC, Incerti B., Palmisano, I, Coppola M, Bennett D. C., Innamorati, G, Ballabio, A, Marigo V   +51 more
core   +1 more source

Foveal avascular zone in oculocutaneous albinism [PDF]

, 2021
Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal ...
Mansour, Ahmad Mohammed Farid Mahmoud, Uwaydat, Sami H., Younis, Muhammad H., Mansour, Hana A.   +3 more
core   +1 more source

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

BMC Medical Genetics, 2019
Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for ...
Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan   +11 more
doaj   +1 more source

TYR (tyrosinase (oculocutaneous albinism IA)) [PDF]

, 2012
Review on TYR (tyrosinase (oculocutaneous albinism IA)), with data on DNA, on the protein encoded, and where the gene is ...
Mendoza, EE, Burd, R
core   +1 more source

Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report

Indian Journal of Ophthalmology, 2019
Oculocutaneous albinism is characterized by partial or complete absence of melanin in retinal pigment epithelium (RPE) and uveal melanocytes. Absence of typical fundal background from RPE and choroid makes it difficult to diagnose retinal disorders in ...
Anil B Gangwe, Swapnil M Parchand, Raj Vardhan Azad, Deepshikha Agrawal, Priyavrat Bhatia   +4 more
doaj   +1 more source

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. [PDF]

PLoS ONE, 2015
Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.The purpose of this study was to ...
Yun Wang, Zhi Wang, Mengping Chen, Ning Fan, Jie Yang, Lu Liu, Ying Wang, Xuyang Liu   +7 more
doaj   +1 more source