Ocular Genetics Service

Genetic eye disorders include a variety of conditions that are often caused by a gene mutation and can be challenging to diagnose. The Eye Institute at Cleveland Clinic Abu Dhabi is one of the few centers in the world with an on-site ocular geneticist, who is specialized in diagnosing this group of disorders. Genetic counseling services are also available.

What We Treat

Genetic eye disorders can affect all parts of the eye, including the eyelids, extraocular muscles, cornea, lens, vitreous, retina, and optic nerve.

These disorders include, but are not limited to:

• Albinism:A disorder of reduced pigmentation within the eye which can result in decreased visual function.
• Aniridia:Characterized by the absence of the iris, but often includes other ocular abnormalities that limit vision.
• Corneal dystrophy:A group of diseases which results in the build-up of deposits in the cornea (the clear, outer layer of the eye).
• Pediatric cataract:A cloudiness in the eye’s lens that affects vision.
• Pediatric glaucoma:A condition that results from a build-up of pressure in the eye that causes damage and leads to vision loss.
• Retinal dystrophy:A group of disorders where there is deterioration of the retina (the tissue that lines the back of eye and is responsible for turning light into signals that then go to the brain).
• Optic neuropathy:Damage to the optic nerve (the nerve located in the back of the eye that transmits information from the eye to the brain).
• Congenital fibrosis of the extraocular muscles:Also referred to as CFEOM, this is a rare genetic disorder that affects the muscles that move the eyes.

As there are a broad spectrum of genetic eye disorders, recommendations and treatment options for the patient are dependent on a diagnosis determined through a thorough examination.

Diagnosis of Genetic Eye Disorders

An important component in the assessment of genetic eye disorders is establishing a detailed medical history. A doctor will then perform a comprehensive ophthalmic examination. Visual electrophysiology may be done to better understand the disease. Depending on the findings, genetic testing may be required.

Treatment of Genetic Eye Disorders

Once a diagnosis has been made, patients are offered treatment specific to their disorder. Genetic counseling is also offered to help patients understand the risks of family members acquiring the disease.

Watch here to see how gene therapy saved two Emirati sisters from blindness and transformed their lives. Cleveland Clinic Abu Dhabi is one of a limited number of worldwide centers certified to administer gene therapy for RPE65-related retinal dystrophy.