Abstract
Abstract: :
Purpose: Congenital X–linked retinoschisis (CXRS) displays a wide range of clinical findings and the associated vision loss is more variable than can be explained by the macular petaloid schisis alone. Surgical treatment also demonstrates variable outcomes. A better classification system of CXRS will allow a better understanding of the natural history and testing of therapeutic interventions. Methods: Patients diagnosed with CXRS underwent retinal analysis by optical coherence tomography (OCT). The fovea, the surrounding macular area and when possible more peripheral retina were examined. The OCT retinal findings were compared to the retinal findings noted during ophthalmoscopic examination. Results: In many cases, the OCT findings demonstrated that areas of retina thought to be flat on clinical examination showed shallow areas of schisis across the macula. We referred to this as lamellar schisis. Additionally, schisis was observed both in the inner and also in the outer plexiform layer. Conclusions: OCT provides useful clinical information for defining the extent of macular involvement in CXRS. Contrary to historical understanding of CXRS, OCT frequently demonstrates lamellar separation throughout the outer plexiform layer, which is consistent with recent immunohistological studies in mouse retina which show that bipolar cells express retinoschisin protein. The combination of clinical exam and OCT findings of foveal and lamellar schisis have allowed us to identify four types of CXRS. Clinical experience thus far indicates that maculas with flat lamellar schisis are more difficult to treat surgically. Schisis Classification
Keywords: genetics • degenerations/dystrophies • imaging/image analysis: clinical