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:
Photos:
#PearleVisionRobinson
#DrClaudiaWendel
#PittsburghOptometrist
#PittsburghEyeCare
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