Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
Yuchen LinChristine L XuGabriel VelezJing YangAkemi J TanakaMark P BreazzanoVinit B MahajanJanet R SparrowStephen H TsangPublished in: Documenta ophthalmologica. Advances in ophthalmology (2019)
This report is not only the first description of a Cameroonian patient with arRP associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. NIR-AF imaging may be particularly useful for assessing functional photoreceptor cells and show an "avocado" pattern of hyperautofluorescence in patients with the REEP6 mutation.