Results 31 to 40 of about 6,439 (248)

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism [PDF]

, 2014
Purpose.Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in ...
Anderson, Jennifer L., Anderson, Jennifer L., Briliant, Murray H., Carroll, Joseph, Chiang, Pei-Wen, Connor, Thomas B., Jr., Cooper, Robert F., Costakos, Deborah M., Curcio, Christine A., Dubis, Adam M., Dubra, Alfredo, McAllister, John T., Patitucci, Teresa N., Summerfelt, Phyllis, Summers, C. Gail, Wilk, Melissa A., Wirostko, William J.   +16 more
core   +2 more sources

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 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

Delineating the genetic heterogeneity of OCA in Hungarian patients [PDF]

, 2017
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation.
Csoma, Zsanett, Farkas, Katalin, Fábos, Beáta, Kemény, Lajos, Nagy, Nikoletta, Németh, Réka, Sulák, Adrienn, Széll, Márta, Tihanyi, Marianna, Tripolszki, Kornélia, Tóth, Lola, Vas, Krisztina   +11 more
core   +2 more sources

Oculocutaneous Albinism [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017
Review on Oculocutaneous ...
Ray, Kunal, Sengupta, Mainak, Ganguly, Kausik   +2 more
openaire   +2 more sources

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

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

Eccrine porocarcinoma with squamous differentiation in a patient with oculocutaneous albinism

Indian Dermatology Online Journal, 2020
Eccrine porocarcinoma is a rare malignant skin appendage tumor of sweat gland origin. Eccrine porocarcinoma arising in a patient of oculocutaneous albinism is extremely rare and only two cases have been reported in English literature to the best of our ...
Biswajit Dey, Vandana Raphael, Caleb Harris   +2 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

Identifying strategies to enhance the educational inclusion of visually impaired children with albinism in Malawi [PDF]

, 2014
Oculocutaneous albinism is an inherited condition with significant health and social impact on the lives of those affected throughout sub-Saharan, including in Malawi.
Lund, Patricia, Lynch, P., Massah, B.
core   +2 more sources