Results 91 to 100 of about 3,749 (193)

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

A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION

, 2011
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia ...
Seven, Mehmet, Guven, G., Yuksel, A., Yılmaz, Şafak, Yosunkaya, E., Karaca, E.   +5 more
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Pathogenesis of the Platinum (cP) Mutation, a Model for Oculocutaneous Albinism

, 1993
The platinum mutation at the C (albino) locus in the mouse is a potential model for oculocutaneous albinism in humans other than type IA (tyrosinase-negative) albinism. Although tissues from mice homozygous for the mutation display substantial tyrosinase
Pifko-Hirst, Sharon, Lamoreux, M Lynn, M Lynn Lamoreux, Orlow, Seth J, Seth J Orlow, Sharon Pifko-Hirst, Zhou, Bao-Kang, Bao-Kang Zhou   +7 more
core   +1 more source

Prenatal Diagnosis of Oculocutaneous Albinism by Analysis of the Fetal Tyrosinase Gene

, 1994
Tyrosinase-negative oculocutaneous albinism, the most severe subtype of a heterogeneous group of albinism, is an autosomal recessive trait caused by mutations in the tyrosinase gene.
Nishikawa, Takeji, Hikiji, Kazumasa, Kawaguchi, Ryuji, Suzumori, Kaoru, Aozaki, Ryoji, Shimizu, Hiroshi, Niizeki, Hironori   +6 more
core   +1 more source

Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome?

, 2000
A sister and brother, with oculocutaneous albinism and reduced bone density are described. Autosomal recesive inheritance is possible. This association has not been previously described.
Gul, D, Kutlu, M, Odabas, E
core   +1 more source

Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

Clinical Ophthalmology, 2014
Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis.
Masuda N, Hasegawa T, Yamashita M, Ogata N   +3 more
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