Autosomal recessive
Caused by changes in both copies of CEP290, which encodes a protein involved in cilia and centrosomes.
Signs and symptoms
A common presentation is Leber congenital amaurosis, with severe vision loss and involuntary eye movements from infancy. Others have Joubert syndrome, with low muscle tone, developmental delay, breathing pattern differences and a characteristic brain-stem malformation, and kidney disease also occurs. Less often there is liver fibrosis, or a lethal neonatal form.
What a diagnosis changes
Regular eye, kidney and liver monitoring is recommended even when the eyes appear to be the only organ affected, with developmental support and visual rehabilitation. Both parents are usually carriers, so genetic counselling, carrier testing and options for future pregnancies can be discussed.
Genes analysed
Also known as
amaurosis congenita of Leber, type 10; Bardet-Biedl syndrome 14; Bardet-Biedl syndrome type 14; BBS14; CEP290 ciliopathy; CEP290 Joubert syndrome; CEP290 Leber congenital amaurosis; CEP290 Meckel syndrome; CEP290 Senior-Loken syndrome; JBTS5; Joubert syndrome 5; Joubert syndrome caused by mutation in CEP290; Joubert syndrome type 5; LCA10; Leber congenital amaurosis 10; Leber congenital amaurosis caused by mutation in CEP290; Leber congenital amaurosis type 10; Meckel syndrome 4; Meckel syndrome caused by mutation in CEP290; Meckel syndrome, type 4; Meckel-Gruber syndrome, type 4; Meckel-like Cerebrorenodigital syndrome; MKS4; SENIOR-Loken syndrome 6; Senior-Loken syndrome caused by mutation in CEP290; Senior-Loken syndrome type 6; SLSN6
Includes 5 related subtypes ↓Hide subtypes ↑
- Bardet-Biedl syndrome 14
- Joubert syndrome 5
- Leber congenital amaurosis 10
- Meckel syndrome, type 4
- Senior-Loken syndrome 6
