视网膜疾病 & 眼科基因

Our ophthalmologists offer world-class, expert care for all types of inherited and rare eye diseases.

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皇冠hga025大学洛杉矶分校健康中心在视网膜疾病和眼科遗传学方面表现卓越

Our retinal disorders and ophthalmic genetics specialists expertly diagnose and care for patients with inherited eye disease. We research new treatments, always using the latest diagnostic tools and therapies. Our team is part of the UCLA Health Stein Eye Institute and Doheny Eye Centers, 哪个眼科护理在全国排名第五 U.S. News & World Report.  

我们课程的亮点包括:

医生的专业知识: Our physicians specialize in eye disorders with genetic factors — a rare subspecialty not widely available in the region. We have contributed to significant discoveries in the field of inherited retinal diseases, 包括找到一些导致这些疾病的基因.

公认的卓越: Our team has achieved recognition for our exceptional coordinated care. For example, 我们是希佩尔-林道(VHL)病的临床护理中心, 由VHL联盟指定.

广泛的诊断测试: 我们有机会获得诊断遗传性眼病所需的测试, 包括通过研究获得的新工具. Our specialists have the advanced expertise required to interpret this diagnostic testing, 导致更准确的, 详细的诊断.

获得新疗法: We lead and participate in clinical trials to find better treatments 遗传性眼病. These clinical trials offer eligible patients access to new and promising treatment options not available elsewhere in the region.

我们的护理领域  

Our vision genetics specialists work with multiple teams to diagnose and treat genetic disorders that affect the eyes. 护理领域包括:

视觉遗传学中心

通过视觉遗传中心, 患者可以获得广泛的诊断检测, 包括基因检测和遗传咨询. 我们的专家解决遗传性眼部疾病的全谱, 为符合条件的患者提供临床试验机会. We collaborate with multiple research groups around the world to ensure patients can participate in the most advanced research available. 

视力康复中心  

我们的视觉遗传学专家与 视力康复中心. The Center offers services to help patients with low vision live a higher quality of life. For example, vision rehabilitation specialists may provide visual assistive devices and teach patients how to use them.

These specialists help patients learn how to perform daily activities to maintain their independence. They also refer patients with severe vision loss to additional services, 比如职业治疗.

我们治疗遗传性眼病

Our specialists treat the full range of genetic conditions and rare eye diseases. 我们治疗的遗传性眼病包括:

色盲(不完全和完全): A genetic condition that affects the perception of colors and reduce the ability to see fine details (central vision acuity)

白化病(眼部和眼皮肤): 一种导致头发异常浅的遗传疾病, 皮肤和眼睛,影响视网膜和视觉发育

科恩综合症: 一种罕见的遗传性疾病,影响身体的多个部位, often causing nearsightedness and tissue breakdown at the back of the eye (retinal dystrophy)

Choroideremia: A rare disorder causing progressive vision loss, usually starting with night blindness

先天性静止性夜盲症: A group of retinal disorders that causes difficulty seeing in low light but do not lead to breakdown of the retina

遗传性锥体杆体营养不良: 一组导致视杆细胞和视锥细胞崩溃的疾病, 视网膜上的感光细胞

黄斑营养不良: 引起黄斑破裂的一组疾病, the central part of the retina containing a large concentration of light-sensitive cells    

马凡氏综合症: 一种影响结缔组织的遗传性疾病, 经常引起多种眼睛问题,如低视力, glaucoma, 斜视或视网膜脱离

吞噬病(神经皮肤综合征): 神经疾病, 比如神经纤维瘤病, 结节性硬化症, Sturge-Weber syndrome and ataxia telangiectasia that can affect the eye, 视神经和身体的其他部位  

视网膜色素变性(杆状锥体营养不良): A group of genetic disorders that cause retina damage and slow, progressive vision loss

黄斑变性疾病: A more specific form of macular dystrophy that causes vision loss due to buildup of material under the retina that primarily affects the macula and central vision

Usher综合征(I、II、III型): 一种导致听力和视力逐渐丧失的遗传疾病

希佩尔-林道病(VHL) A type of phakomatoses that causes tumors and cysts to form throughout the body, 包括视网膜(视网膜血管母细胞瘤)

我们为遗传性眼病提供治疗

许多遗传性眼病无法治愈. But treatment may reduce symptoms, increase vision and improve your quality of life. Our ophthalmic genetics specialists can recommend treatments that address your symptoms and refer you to other UCLA Health providers for services. 治疗包括:

低视力辅助设备: Eyeglasses, 隐形眼镜, magnifiers, computer technology and assistive robotic devices are common tools to help people with low vision.

视力康复: Specialists at our 视力康复中心 help patients maximize visual function and quality of life.

许多患者还受益于:

临床试验

Our specialists continually research promising new treatments and medications, 比如基因疗法, 遗传性眼病. 符合条件的患者可以通过临床试验接受治疗.  

并发症的评估和处理

Some people may experience complications related to a genetic eye disease, such as fluid buildup between cells in the retina (macular edema) or early-onset cataracts. Others may develop red lesions (vascular lesions) or small deposits of protein and calcium on the nerve that help you see (optic nerve drusen).

Our specialists evaluate and identify complications arising from a genetic eye disease. 我们使用先进的技术和工具治疗这些并发症.

基因检测和咨询

基因检测可以识别基因突变, chromosomes or proteins that increase the risk of or cause genetic eye conditions. 它可以帮助计划生育和评估有风险的家庭成员. It may also help identify patients who may qualify for clinical trials.

结果可以帮助我们的专家确认诊断, recommend treatments to help you manage the disorder or refer you to a clinical trial. Genetic counselors review the tests and provide information about what it means for patients and their families to have an inherited eye disease.

在适当的时候, patients may work with UCLA Health’s medical genetics program long-term to manage side effects or complications of a hereditary condition.

我们的专家团队

Our retinal disorders and ophthalmic genetics specialists are experts in identifying all types of rare and inherited eye diseases. We participate in research studies and clinical trials to offer patients the newest, 最有希望的治疗方案.

Steven Nusinowitz博士

Steven Nusinowitz博士

眼科基因

 

 

Contact us

Call 310-794-5400 to request an appointment with a vision genetics specialist at UCLA Health.

找到你的关怀

Our ophthalmic genetics specialists provide world-class care for patients with inherited eye disorders. Call 310-794-5400 了解更多有关我们的服务.