Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [ 1 ] [ 2 ] It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.

2023年4月13日 · In oculocutaneous albinism (OCA), impaired melanin biosynthesis leads to hypopigmentation in the skin, hair, and eyes with characteristic ocular abnormalities; in ocular albinism (OA), only the visual pathway is clinically affected. The ophthalmic manifestations associated with albinism can include the following:

I型眼白化病（OA1）或X连锁眼白化病是最常见的眼白化病形式。 眼白化病是一种遗传性疾病，其特征是受影响男性的视力异常。 视力缺陷在出生时就存在，并且不会随着时间的推移变得更加严重。 受影响的人有正常的皮肤和头发色素沉着。 眼白化病是一种 X 连锁隐性遗传病，由 G 蛋白偶联受体 143 (GPR143) 基因突变引起。 二、症状. 眼白化病主要影响眼睛中的色素生成。 眼白化病可能会出现多种视力问题，包括眼睛不自主地来回移动（眼球震颤）、某些人的虹膜色素减少、 …

2015年8月18日 · Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males. Vision deficits are present at birth and do not become more severe over time.

与白化病，眼部，型I有关的重要基因是GPR143（G蛋白偶联受体143），其相关通路/超级通路包括普拉德-威利综合症和安吉尔曼综合症以及在黑素细胞和视网膜色素上皮细胞中的GPR143。 在该疾病的背景下提到了叶黄素。 附属组织包括眼睛和皮肤，相关表型为眼震和畏光。 该模块正在开发中，请耐心等待我们的数据更新。 ... Functional annotation of a full-length mouse cDNA collection. Analysis of the mouse transcriptome based on functional annotation of 60,770 full …

The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells.

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[目的]观察中国人眼白化病1型 (OAI)的临床表现特点. [方法]临床和基因检查确诊的16例OA1患者及8例女性携带者纳入研究.其中8例患者和4例携带者来自同一个家系.所有患者和携带者均进行了矫正视力、详细的裂隙灯显微镜眼前节检查.16例患者中,行间接检眼镜检查15例；眼前节照相10例；眼底彩色照相4例；散瞳检影验光8例;光相干断层扫描 (OCT)3例；8例携带者中,行眼前节照相3例；眼底彩色照相3例.根据检查结果将虹膜色素沉着分为A、B、C三种类型.A型:虹膜色素轻微沉着不 …

Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair.

OA1 (GPR143) is a pigment cell-specific intracellular glycoprotein consisting of 404 amino acid residues that is mutated in patients with Ocular Albinism Type 1, the most common form of ocular albinism. While its cellular localization is suggested to be endolysosomal and melanosomal, the physiological function of OA1 is currently unclear.