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).

Conclusions/importance

This paper draws attention to the occurrence of retinoschisis in patients with choroideremia. OCT can be used to confirm the presence of retinoschisis rather than retinal detachment, as the clinical exam findings that distinguish the two conditions are not helpful in the setting of advanced chorioretinal atrophy. Although it remains unclear whether patients with choroideremia as a group are at increased risk of retinoschisis, it is possible that abnormal vesicular traffic in the RPE and photoreceptors could contribute to abnormalities in cell adhesion and the extracellular matrix. As gene therapy by subretinal injection of adeno-associated virus becomes the standard of care to slow down or arrest retinal degeneration in choroideremia, it will be critical to carefully screen these patients for retinoschisis prior to surgical intervention and to incorporate any such findings into surgical planning.

SUBMITTER: Greig LC 

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

REPOSITORIES: biostudies-literature