ocular albinism การใช้

• Ocular albinism affects not only eye pigmentation but visual acuity, as well.
• In its most severe forms, ocular albinism can leave a person legally blind.
• Ocular albinism results in light blue eyes, and may require genetic testing to diagnose.
• Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains.
• She learned the uncontrollable eye movements were caused by nystagmus, which often accompanies ocular albinism.
• He made important contributions in the research of ocular albinism, retinitis pigmentosa and hereditary night blindness.
• Examination by Lewis and a pediatric ophthalmologist in San Antonio confirmed that the boy had ocular albinism.
• Ocular albinism can cause delayed mental development in young children and learning difficulties when they attend school.
• She had to know what they were facing, so she found a specialist in St . Louis who told her about ocular albinism.
• The rare genetic defect called ocular albinism reduces the clarity of vision, said Dr . Richard Lewis, professor of ophthalmology at Baylor College of Medicine in Houston.
• In time, they learned Lake had ocular albinism, a rare congenital condition that causes the eyes to lack pigment even though the skin and hair show normal coloration.
• Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or mutations of either the Tyr gene or P transporter.
• This gene is mapped in close proximity to APXL ( Apical protein Xenopus laevis-like ) and OA1 ( Ocular albinism type I ), which are both located on the human X chromosome at band p22.3.
• When the term " " autosomal recessive ocular albinism " " ( " AROA " ) is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is " X-linked ".
• When the term " " autosomal recessive ocular albinism " " ( " AROA " ) is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is " X-linked ".
• Shroom2 is both necessary and sufficient to govern the localization of pigment granules at the locus encoding human SHROOM2 lies within the critical region for two distinct forms of ocular albinism, it is possible that SHROOM2 mutations may contribute to human visual system disorders.