Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.

ABSTRACT:

Importance

Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss.

Objective

To investigate an X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice site RPGR c.779-5T>G variant.

Design, setting, and participants

In this case series, 3 members of an X-linked retinal degeneration family were studied by in-depth phenotyping and genetic screening at a single center. Data were collected and analyzed from November 2018 to March 2020.

Main outcomes and measures

Data were collected on full ophthalmic history, examination, and retinal imaging. A full retinitis pig

SUBMITTER: Cehajic-Kapetanovic J 

PROVIDER: S-EPMC7516822 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature