A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.

ABSTRACT:

Background

Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. Clinical exam findings typically drusen -like deposits beneath the RPE or reticular pseudo drusen deposits above the RPE with a majority of patients developing choroidal neovascularization.

Materials and methods

Case report of two members of a family that present with atypical clinical exam findings. Protein modeling of the novel Y137CTIMP3 variant was performed and compared with other known variants.

Results

In this study we describe a father and son initially diagnosed with retinitis pigmentosa of unknown genetic origin. More recent genetic testing of the patients, identified a novel c.410A>G; p.Tyr137Cys variant of uncertain clinical signi

SUBMITTER: DeBenedictis MJ 

PROVIDER: S-EPMC8118143 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature