Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

Objective: To screen mutations in the PRPF31, RHO, and PRPH2 genes in Chinese patients with retinitis pigmentosa (RP).

Methods: Patients with RP were recruited from Retina Hong Kong. All the exons of the PRPF31, RHO, and PRPH2 genes were amplified and screened for mutations using single-stranded conformation polymorphism analysis followed by DNA sequencing.

Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.

Purpose: Choroideremia (CHM) is an X-linked retinal degenerative disorder caused by mutations in the CHM gene. The mutations result in malfunction of the Rab escort protein 1 (REP-1). In this study, mutational analysis of the CHM gene was performed on five Chinese families clinically diagnosed with CHM.

Comparing the multifocal electroretinogram topography before and after cataract surgery.

Purpose: To investigate whether multifocal electroretinogram (mfERG) topography would be affected by nuclear cataract.

Methods: Multifocal electroretinograms were recorded from 10 elderly subjects (10 eyes) with nuclear cataract of grade five (LOCS III) before and after cataract surgery (phacoemulsification). Their visual acuity before the cataract surgery was between 6/12 and 6/18.