Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia.

ABSTRACT:

Purpose

To report three cases of retinoschisis in patients with intermediate to advanced choroideremia.

Observations

Three patients were referred for evaluation of retinal detachment in the context of an inherited retinal degenerative disease. In all three cases, patients carried variants in the CHM gene suspected to be pathogenic and exhibited the characteristic findings of choroideremia, including pigment clumping and chorioretinal atrophy with scleral exposure and prominent choroidal vessels. Interestingly, these patients were also found to have areas of typical retinoschisis and cystoid degeneration located in the outer plexiform layer of the mid periphery or macula. Retinoschisis was confirmed by spectral domain optical coherence tomography (SD-OCT).

Conclusio

SUBMITTER: Greig LC 

PROVIDER: S-EPMC9052045 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature