Hereditary Eye Disorders Risk Panel
Supporting ophthalmic care through genetic insight
Introduction
Genetic Testing for Vision Disorders
This panel evaluates genes associated with a range of inherited eye diseases that can cause visual impairment or blindness. Conditions assessed include retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, congenital cataracts, glaucoma, optic neuropathies, and macular dystrophies. Early genetic diagnosis aids in accurate classification, prognosis, access to emerging therapies, and guidance for vision preservation strategies and family risk assessment.
Why the Test Is Significant
Clarifies Diagnosis
Distinguishes between overlapping or similar ocular conditions
Enables Early Care
Enables counseling and planning for vision care and rehabilitation
Supports Targeted Therapy
Identifies patients eligible for emerging targeted therapies
Assesses Family Risk
Helps relatives understand their own inherited risk
Unknown and Interesting Facts
Many hereditary eye conditions, particularly retinal dystrophies, share overlapping clinical features and underlying genetic causes. A single gene can be associated with multiple syndromes, and different variants in the same gene can result in dramatically different disease courses. Identifying the precise genetic mutation helps distinguish among disorders, enables accurate prognostic counseling, and—in some cases—predicts the likely rate of vision loss, guiding timely access to visual rehabilitation or emerging gene therapies.
Medical Necessity and Signs/Symptoms
- Congenital or early-onset vision loss
- Night blindness or impaired low-light vision
- Progressive decline in visual acuity or visual field
- Abnormal findings on funduscopic exam
- Family history of inherited ocular conditions
- Regressive visual function during childhood
- Suspected syndromic eye disorders (e.g., Usher syndrome)
- Cases needing differential diagnosis of retinal disease
Post-Test Support
Elite Clinical Laboratory provides easy-to-interpret results and actionable insights. Our genetic specialists assist clinicians in understanding the relevance of findings and their impact on patient care. We also connect providers with ophthalmic genetic counselors and facilitate referrals to ophthalmologists and low-vision rehabilitation specialists, ensuring patients and families receive comprehensive, forward-looking support in managing hereditary eye diseases.