Severe early-childhood-onset retinal dystrophy

Severe early-childhood-onset retinal dystrophy (sometimes called SECORD) is a group of inherited eye conditions that cause serious vision problems starting in the first few years of life. It is closely related to a condition called Leber congenital amaurosis (LCA) but is distinguished by its onset in early childhood rather than at birth. The disease affects the retina, which is the light-sensitive layer at the back of the eye responsible for converting light into signals the brain can understand. When the retina does not work properly, children experience significant vision loss that can progress over time. Key symptoms include poor vision in dim light (night blindness), reduced central and side vision, involuntary eye movements (nystagmus), and sensitivity to bright light. Children may also have sluggish or absent pupil reactions to light. Over time, the retina can show visible signs of damage, such as thinning or pigment deposits, which an eye doctor can see during an exam. The treatment landscape has changed dramatically in recent years. For patients with mutations in the RPE65 gene specifically, an FDA-approved gene therapy called voretigene neparvovec-rzyl (Luxturna) is available. This treatment delivers a working copy of the RPE65 gene directly into the retina and can meaningfully improve vision. For patients with mutations in other genes, treatment remains largely supportive, including low-vision aids, orientation and mobility training, and ongoing monitoring. Research into additional gene therapies and other approaches is actively underway for many of the other genetic causes.

Bring these to your next appointment

• Q1.What specific gene is causing my child's retinal dystrophy, and does it qualify for gene therapy like Luxturna?,How quickly is my child's vision expected to change over the coming years?,Are there any clinical trials my child might be eligible for?,Should my child be screened for any other health problems related to this genetic condition, such as kidney issues?,What low-vision aids and educational supports should we put in place now?,How often should my child have eye exams and ERG testing to monitor progression?,What is the chance that our other children or future children could have this condition, and should family members be tested?

Common questions about Severe early-childhood-onset retinal dystrophy

Related conditions

Other rare diseases commonly researched alongside Severe early-childhood-onset retinal dystrophy.

• Leber congenital amaurosis→
• Retinitis pigmentosa→