Related Experiment Video
Updated: Jun 22, 2026
Retinal Detachment Model in Rodents by Subretinal Injection of Sodium Hyaluronate
Published on: September 11, 2013
Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis
Jong Joo Lee1, Jeong Hun Kim, So Yeon Kim
1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Insights
X-linked juvenile retinoschisis (XLRS) can present with severe bilateral vitreous hemorrhage in infants as young as one month old. This condition requires early recognition for potential intervention and management.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- X-linked juvenile retinoschisis (XLRS) is a genetic retinal disorder typically diagnosed later in childhood.
- Vitreous hemorrhage is an uncommon but serious manifestation of XLRS.
Observation:
- Two male infants, one aged 1 month and another 3 months, presented with bilateral vitreous hemorrhage.
- The 1-month-old infant experienced massive hemorrhage, requiring vitrectomy to evacuate intraschisis bleeding.
- The 3-month-old infant presented with esodeviation and bilateral vitreous hemorrhage, with retinoschisis visible upon examination.
Findings:
- XLRS can manifest with significant vitreous hemorrhage very early in infancy.
- Surgical intervention (vitrectomy) may be necessary for massive hemorrhage in XLRS.
- Spontaneous absorption of hemorrhage can occur in some cases of infantile XLRS.
Implications:
- Highlights the importance of considering XLRS in the differential diagnosis of infantile vitreous hemorrhage.
- Suggests that early detection and management of XLRS may prevent severe vision loss.
- Emphasizes the variability in presentation of XLRS, even in early infancy.
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.
Related Concept Videos
01:27Diabetic Retinopathy
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...