Inherited Retinal Disease Program

Inherited retinal diseases (IRDs) are a genetically and clinically heterogeneous group of disorders characterized by loss of photoreceptor function and a major cause of severe vision loss or blindness.¹
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The incidence of IRDs is estimated to be 1:2000 and the leading cause of vision loss between the ages of 15 and 45.¹
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• Retinitis pigmentosa (RP) is the most common presentation. RP typically presents with night blindness followed by constriction of peripheral visual fields, which leads to tunnel vision and eventually loss of central vision.²
• Patients with cone-rod dystrophies (CRD) experience decreased visual acuity, photophobia, nystagmus and progressive loss of color perception. Onset for CRD is typically in early childhood or adolescence.^3,4
• Leber congenital amaurosis (LCA) is a severe retinal disease with early onset and is characterized by early vision loss in infancy, absent or sluggish pupillary response, and severely abnormal or absent ERG response.^5,6
• Extra ocular involvement that may require additional medical management can also present in individuals with an underlying genetic syndrome with features that include but are not limited to renal disease, developmental delay or intellectual disability, hearing loss, ataxia, laterality defects and abnormalities of the skeletal, cardiac and genitourinary systems.

• Confirm a suspected diagnosis
• Provide treatment guidance
• Support enrollment in precision therapy clinical trials
• Determine which relatives may be at risk