Abstract
Purpose :
Mutations in the PDE6B gene are a rare cause of autosomal recessive Retinitis Pigmentosa (arRP). We report on a non-consanguinous family with pseudodominant inheritance of RP due to PDE6B mutations.
Methods :
We conducted a chart review of four members of a Puerto Rican family who underwent a comprehensive ophthalmic evaluation by at least one of the authors. The mutational screening was done using a genotyping microarray provided by Invitae Corporation, using next-generation sequencing (NGS) technology. Genomic DNA obtained from saliva samples was enriched for targeted regions using a hybridization-based protocol and sequenced using Illumina technology. Descriptive analysis was done.
Results :
Patient 1 had a normal ophthalmic examination and a heterozygous pathogenic variant in the PDE6B gene c.1540del PLeu514Trpfs*61. Patients 2, 3, 4 had mid-peripheral retinitis pigmentosa, concentric visual field ring scotomas OU, extinguished ERG, and homozygous pathogenic variants in the PDE6B gene c.1540del PLeu514Trpfs*61.
Conclusions :
Even though mutations in the PDE6B gene usually lead to arRP, it may be inherited in a pseudodominant pattern in geographically isolated populations. Genotyping studies in patients with RP are warranted to correctly classify inheritance mode.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.