Baseline Microperimetry and OCT in the RUSH2A Study: Structure −Function Association and Correlation With Disease Severity

Usher syndrome is the leading cause of autosomal recessive deaf-blindness and is genetically heterogeneous.1,2 The most common form of Usher syndrome (56%-67%) is Usher syndrome type 2 (USH2), with mild/moderate congenital hearing impairment and inherited retinal degeneration (IRD) beginning in the first or second decade.3,4 The gene most commonly associated with USH2 is USH2A, which accounts for 57% to 80% of USH2 patients.5,6 Retinitis pigmentosa (RP) in USH2A shows primary rod and secondary cone photoreceptor degeneration followed by retinal pigment epithelial (RPE) degeneration.

Source: American Journal of Ophthalmology - August 22, 2022 Category: Opthalmology Authors: Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Tags: Original Articles Source Type: research