Individuals with biallelic variants in PRORP require assessment for bilateral sensorineural hearing loss. This can be congenital or childhood onset with progression. Hearing augmentation with hearing aids or cochlear implantation may be indicated.
Affected females should have an assessment prior to puberty to determine ovarian function and requirement for hormone replacement to facilitate development of secondary sexual characteristics and protect bone metabolism. Specialist assisted reproductive medicine input is required.
Affected individuals should undergo MR brain imaging to determine if evidence of white matter changes (leukodystrophy). These changes may result in intellectual disability, altered behavior and epilepsy. Assessment by a neurologist is appropriate.
The childhood onset severe metabolic form will require the input of many specialized experts dependent on the clinical presentation.