Congenital Non-Progressive Cone-Rod Synaptic Disorder (CRSD)

Sponsored diagnostic testing programs for Congenital Non-Progressive Cone-Rod Synaptic Disorder (CRSD)

Congenital non-progressive cone-rod synaptic disorder presents with early-onset visual impairment due to dysfunction at the photoreceptor synapse, but tends to show a relatively stable clinical course. Findings may include nystagmus, reduced acuity, and abnormal electroretinogram results. Genetic testing confirms the diagnosis and guides counseling.

1 program found for Congenital Non-Progressive Cone-Rod Synaptic Disorder (CRSD)

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
ViewOrder
Performing labInvitae | Labcorp