Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.

ABSTRACT:

Background

We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation.

Case presentation

A 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with tessellated changes in the fundus within the posterior pole. Optical coherence tomography (OCT) showed generalized disruption of foveal microstructures in the OD. No abnormal findings were identified, but localized ellipsoid zone band losses were observed on OCT in the OS. Fundus autofluorescence revealed multiple patchy hypo-autofluorescent lesions in the OD and a tapetal-

SUBMITTER: Lee HW 

PROVIDER: S-EPMC10190057 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature