Typical childhood-onset<unk>  is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene located in chromosome 17p.31. A late-onset phenotype without abnormal eye findings from a CTC1 mutation has been reported.CTC1 is a component of the CST complex, which is additionally composed of oligonucleotide/oligosaccharide-binding fold containing 1 (coded by OBFC1, also known as STN1) and telomerase capping complex subunit homolog 1 (coded by TEN1). CST complex is evolutionarily conserved. It binds to single-stranded DNA and associates with a fraction of telomeres, potentially protecting them.
Cerebroretinal microangiopathy with calcifications and cysts
Intraretinal microvascular abnormalities
Punctate inner choroiditis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chronic relapsing inflammatory optic neuropathy
Diffuse unilateral subacute neuroretinitis
Progressive outer retinal necrosis
Giant retinal ganglion cells