What features do children with a change in the PRPF8gene have in common?
Children with the developmental form may need support with learning, communication, movement or feeding. Some are autistic. Their abilities and needs differ a great deal from one child to another.
What happens with the eye condition?
People with the retinal form may first notice difficulty seeing in dim light, or difficulty seeing objects to the side. Vision can change over time, at different rates in different people.
What other health problems have been reported?
A small number of reports describe other health problems, including heart differences present from birth, problems with growth and puberty, and differences in the kidneys or urinary tract. These reports do not mean that your child is expected to develop them. Any new concern should be assessed on its own merits.
Other eye findings have also been reported. These include glaucoma, which damages the nerve connecting the eye to the brain, and an inward turn of the eye in one family with developmental difficulties. The evidence linking these findings to PRPF8varies, and they are not expected in everyone with a PRPF8change.
What may a PRPF8gene change mean for the future of my child?
Only small numbers of people have been described so far, and their difficulties varied widely. This means that no one can predict from the gene result alone how a particular child will develop. Your child's own progress over time is the best guide.
PRPF8