Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
Jennifer LeeHannah L ScangaKunal K DansinganiKenneth J TaubenslagLeonid ZlotcavitchBharesh K ChauhanChristin L SylvesterD Holmes MortonKen K NischalPublished in: Ophthalmic genetics (2018)
There is limited published ophthalmic data on FLVCR1-related PCARP. We describe clinical and retinal imaging features in the one of the largest cohorts of affected patients in the literature. Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa.
Keyphrases
- high resolution
- end stage renal disease
- newly diagnosed
- ejection fraction
- systematic review
- chronic kidney disease
- early onset
- prognostic factors
- optical coherence tomography
- peritoneal dialysis
- randomized controlled trial
- diabetic retinopathy
- big data
- machine learning
- fluorescence imaging
- patient reported outcomes
- drug induced
- cataract surgery