Optical coherence tomography in enhanced S-cone syndrome: Large macular retinoschisis with disorganized retinal lamination

PURPOSE. The authors previously reported clinical and molecular features of a boy (at age 17) with enhanced S-cone syndrome (ESCS) who had bilateral cystoid maculopathies. The purpose of the current study was to describe the patient's optical coherence tomography (OCT) findings. METHODS. OCT was performed when the patient was 23 years old. RESULTS. OCT images revealed formations of single large hyporeflective cystic spaces in the cystoid maculopathies of both eyes. The cystic spaces were much larger than those of previously reported cases. In the temporal region of each cystic space, symmetric disorganized retinal lamination was observed with the retina lacking well-defined and hyporeflective bands of the inner nuclear layer and the outer nuclear layer, which are seen in normal retina. Splitting in the retinal thickness was at the level of the outer retinal layer rather than at the inner retinal layer in both eyes. CONCLUSIONS. Splitting is likely to occur close to the outer plexiform layer in which the cleavage plane of familial juvenile retinoschisis is identified. The unique OCT manifestation of symmetric large macular retinoschisis with disorganized retinal lamination may indicate a severe form of ESCS.