Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis

Abstract

The authors report two cases of X-linked juvenile retinoschisis (XLRS) manifested as bilateral vitreous hemorrhage as early as in an 1-month-old infant and in a 3-month-old infant. The one-month-old male infant showed massive bilateral vitreous hemorrhage. During vitrectomy, thin membrane representing an inner part of schisis cavity was excised and intraschisis hemorrhage was evacuated. As intraschisis cavities were cleared, the stump of inner layer appeared as the demarcation line between the outer layer of the schisis retina and non-schisis retina. The other three-month-old male infant presenting with esodeviation also showed bilateral vitreous hemorrhage. Typical bilateral retinoschisis involving maculae could be seen through vitreous hemorrhage in both eyes on fundus examination. Spontaneous absorption of hemorrhage was observed on regular follow-up. XLRS could be manifested as massive hemorrhage inside or outside of the schisis cavity early in infancy.

Retinal Gene Therapy: Surgical Vector Delivery in the Translation to Clinical Trials

“…Moreover, the genetic condition in question per se should be evaluated for its effect on the adhesiveness of the retina in the treated area (Le Meur et al, 2006). As an example, one of the more recent targets in gene therapy trials, the X-linked juvenile retinoschisis, predisposes for retinal detachment, and vitreous hemorrhage and thus might not be the optimal disease for SR injection (George et al, 1995; Lee et al, 2009). On the other hand, more peripheral degenerations like those seen in classical retinitis pigmentosa (RP) cases are very unlikely to cause retinal detachment.…”

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

“…Therefore, XLRS is frequently diagnosed prior to school age suggesting a juvenile onset. Several cases of severe retinoschisis have been described in the first year of age suggesting that XLRS indeed is present at birth (Lee et al, 2009; Prasad et al, 2006; Renner et al, 2008; Sieving, 1998). These severe cases as well as the absence of acute visual loss in the majority of cases indicates that the onset of XLRS is congenital, but the diagnosis is delayed because small infants are not affected in their daily tasks by moderate visual loss.…”

“…Sudden visual loss rarely occurs and is often associated with complications like vitreous hemorrhage or retinal detachment (Lee et al, 2009; Prasad et al, 2006). Hyperopia is a frequent finding.…”

Correlation Between Spectral-Domain OCT Findings and Visual Acuity in X-Linked Retinoschisis

“…1 The common acquired causes of this visual impairment include macular hole, tractional and rhegmatogenous retinal detachment, vitreous hemorrhage, neovascular glaucoma, and optic atrophy. [2][3][4][5][6][7][8][9] However, poor vision is also often seen in retinoschisis patients lacking the above complications. Although retinal splitting around the fovea may directly cause partial visual loss, the splitting of the inner retinal layer, including the retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL), seen in previous pathology studies 10,11 is not sufficient to explain the progressive visual loss in affected patients.…”