UPMC Vision Institute uses the medical and research knowledge of UPMC and the University of Pittsburgh Department of Ophthalmology.
The ocular genetics team, including genetic counselors, are very important for patients with inherited vision problems, such as retinal dystrophy, front-of-the-eye disorders, developmental disorders, cornea problems, uncontrolled eye movements, optic nerve damage, and albinism, among many other conditions.
The most common disorders which UPMC specialists are skilled at treating include:
- Retinitis pigmentosa is a group of inherited disorders that progressively reduce the retina’s ability to respond to light, leading to a loss of vision.
- Stargardt disease is the leading inherited juvenile macular degeneration, characterized by progressive vision loss due to the degeneration of cells in the central retina.
- Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease that causes severely reduced vision from birth. This condition is characterized by early-onset visual impairment
- Retinoschisis is a genetic eye disorder in which the retina splits into separate layers. This separation impairs both central and peripheral vision, potentially affecting activities such as reading, recognizing faces, and navigating spaces. Early diagnosis and management are important to help preserve vision and quality of life.
- Optic neuropathy refers to damage to the optic nerve, which may result in vision loss. Common symptoms include blurry vision, blind spots, and reduced color perception. While genetic factors are a frequent cause. Early diagnosis and intervention are crucial to help preserve vision and improve quality of life.
- Pediatric cataracts are clouding of the eye's lens in children, which can be present at birth (congenital) or develop later (acquired) due to causes like genetics, infection, trauma, or certain medical conditions.
Genetic counselors collaborate closely with optometrists, ophthalmologists, and other specialists to assess patients’ medical and family histories. They also coordinate genetic testing and provide expert interpretation of results, helping patients and families understand their inherited vision conditions and make informed decisions about care.
Ultramodern care, diagnostic evaluation, testing, genetic counseling, advanced genetic testing, and access to modern treatments. Some of those initiatives include repairing genetic defects in the eye using gene therapies, using stem cells to repair severely damaged corneas, cortical vision, or sending images directly to the brain from a camera, implantation of a bionic chip new treatments for macular degeneration and glaucoma, and regenerating the optic nerve.
Sources:
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