Neurodevelopmental presentation
Developmental delay or intellectual disability, autism or behavioural differences, hypotonia and feeding difficulties have been reported. Structural cardiac abnormalities, brain imaging abnormalities and dysmorphic features have also been described. Severity is variable, and published cohorts are too small for dependable individual prognostic estimates.
Retinal presentation
Night-vision difficulty, peripheral visual-field loss and progressive retinal degeneration characterise RP13. Onset and progression can vary, including within families.
Other reported associations
One report described severe transient hypophosphataemia, growth hormone deficiency, growth failure and delayed puberty in an adolescent with a de novo stop-gain variant; these are not established universal features.
A 2025 preprint proposed an association with congenital anomalies of the kidney and urinary tract. This remains preliminary evidence.
Ophthalmic findings outside RP13
Primary open-angle glaucoma has been reported with selected PRPF8missense variants. This association should be distinguished from established RP13.
Esotropia was reported in the family with a homozygous variant, alongside normal recorded visual acuity. This is an observed feature within a candidate association, not evidence of a separate PRPF8retinal disorder.
PRPF8