Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family

Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Jason Charng, Enid S. Chelva, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen

Research output: Contribution to journalArticle

Abstract

Background: Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic origin. This study presents the early and late clinical features and disease progression rates in an Australian family with SAG adRP. Materials and methods: An observational case series of four family members with adRP. They were examined clinically, with multi-modal retinal imaging and electroretinography (ERG) to ascertain phenotype. Disease progression rate was measured using optical coherence tomography (OCT) and fundus autofluorescence (FAF). A retinal dystrophy panel was used for the proband and cascade testing with targeted Sanger sequencing was conducted in other available family members. Results: The proband presented at 36 years of age with profoundly reduced full-field ERG responses despite a sector RP phenotype. This progressed to a classic RP pattern over several decades leaving a small residual island of central visual field. The horizontal span of the residual outer nuclear layer and the area of hyperautofluorescent ring contracted at a rate of 8–11% and 9–14% per year, respectively. DNA sequencing confirmed the segregation of SAG c.440 G > T mutation with disease. Conclusion: SAG adRP presents with a reduced full-field ERG response consistent with a rod-cone dystrophy in mid-life despite a sector RP phenotype. Centripetal progression of the disease into the macula can be tracked by OCT and FAF imaging.

Original languageEnglish
JournalOphthalmic Genetics
DOIs
Publication statusE-pub ahead of print - 2020

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