Retinoschisis-Associated Retinal Detachment in Choroideremia: A Surgical Conundrum

To describe a case of retinoschisis-associated retinal detachment (RD) in a patient with genetically confirmed choroideremia and discuss implications for surveillance and surgical management.

A case report of a 43-year-old man with genotypically confirmed choroideremia, CHM c.242_245 deletion, who developed rhegmatogenous RD following progression of peripheral retinoschisis. Multimodal imaging, including optical coherence tomography (OCT), B-scan ultrasonography, ultrasound biomicroscopy (UBM), and fundus autofluorescence (AF) were utilized for diagnosis and surgical planning.

The patient presented with acute visual decline from 20/20 Snellen to 20/100 Snellen in the affected eye following progression of temporal retinoschisis into the fovea. OCT demonstrated schisis cavities with subretinal fluid extending to the fovea. B-scan demonstrated shallow temporal subretinal fluid involving the macula, and UBM was suggestive of multiple small anterior holes within the retinoschisis, though these were not clearly identified on examination with indirect fundoscopy. Surgical repair with a high posterior encircling scleral buckle (#277 tire) with cryopexy achieved foveal reattachment, schisis cavity collapse, and visual recovery to 20/25 Snellen.

This case represents the first documented retinoschisis-associated RD in choroideremia. Progressive degeneration of the RPE, choroid, and retinal layers may create structural instability predisposing to RD when retinoschisis progresses. This mechanism should theoretically make surgical reattachment challenging. This case highlights the need for risk stratification, close follow-up, and early surgical intervention to prevent reversible vision loss in patients with retinoschisis, RD, and choroideremia.