Inherited Retinal Disorders Service

Early and Accurate Diagnosis

With access to comprehensive testing, our physicians are able to make early and accurate diagnoses.

For instance, we use electroretinography (ERG) to measure the electrical response of the eye's light-sensitive cells (rods and cones). This test enables us to detect photoreceptor dysfunction well before vision deteriorates.

We can also evaluate the structure of the retina with imaging tools, including optical coherence tomography (OCT) and autofluorescence imaging.

Genetic testing is an integral part of care for patients with IRDs. Via the Genetic Counseling service, patients can receive genetic counseling during their visit, often in association with genetic diagnostic testing provided by the Ocular Genomics Institute.

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Access to the Latest Treatments

Our physicians may discuss potential treatments, including clinical trials and referrals to vision rehabilitation services. These discussions and recommendations are tailored for each condition and patient. 

As our physicians and researchers study the genetic causes of IRDs, we have already seen major advances in patient care. Notably, Mass. Eye and Ear performed the first FDA-approved gene therapy for an inherited disease in March 2019. The treatment, commercially identified as Luxturna™, has been shown to improve visual function in children and adults with inherited retinal disease caused by mutations in the RPE65 gene. Two months after treatment, 13-year-old Jack experienced life-changing results. Read his story

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Referrals

Patients of all ages are seen by our Inherited Retinal Disorders Service physicians in consultation at Mass. Eye and Ear. To request an appointment based on your doctor's referral, call 617-573-3621. Appointments must be arranged well in advance.

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Preparing for Your Appointment

Please bring copies of past eye exam results, as well as any previous genetic results.

In many cases, a complete evaluation, including comprehensive ocular testing, consultation with the doctor, genetic counseling, and initiation of genetic testing, can take most or all of the day.

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Participate in a Clinical Trial

The IRD Service has an active research program, with several clinical trials of gene and stem cell therapies for specific types of retinal degeneration in progress. The IRD Service is also one of the Spark Ocular Gene Therapy Treatment Centers, which provides patients with RPE65-associated retinal degeneration treatment with Luxturna™ gene therapy.

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Conditions We Treat

We care for patients with all types of IRDs. This includes, but is not limited to:

Early-onset, Severe Retinal Dystrophy (Including Leber Congenital Amaurosis)
This rare group of disorders causes vision loss early in childhood

Rod-Cone Dystrophy (Retinitis Pigmentosa)
A group of genetic disorders that often causes night blindness as an early symptom, followed by progressive vision loss

Inherited Macular Dystrophy (Including Stargardt Disease and Macular Dystrophy)
A group of genetic disorders in which central vision loss is an early symptom, while side vision is preserved

Cone Dysfunction Syndromes (Including Cone Dystrophy, Cone-Rod Dystrophy, and Achromatopsia)
A group of genetic disorders that often causes central vision loss and light sensitivity

Syndromic Disorders (Including Usher Syndrome)
Retinal degeneration may be one component of diseases that affect multiple organ systems, such as Usher syndrome (retinitis pigmentosa and hearing loss) and various ciliopathies

Choroideremia
A genetic disorder in which both the retina and choroid are affected