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Infantile presentation of X linked retinoschisis
N D George1, J R Yates, K Bradshaw
1Department of Ophthalmology, Addenbrooke's NHS Trust, Cambridge.
Insights
This study identifies a rare presentation of X-linked retinoschisis (XLRS) in infants with bullous retinoschisis, often accompanied by hemorrhage. Early recognition is key for diagnosis and genetic counseling, as spontaneous reattachment and good visual prognosis are common.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- X-linked retinoschisis (XLRS) is a genetic retinal disorder typically diagnosed in males.
- Common presentations include decreased visual acuity and macular changes.
Observation:
- Five infants presented with nystagmus and/or strabismus.
- All infants exhibited bilateral, highly elevated bullous retinoschisis involving the macula.
- Hemorrhage within the schisis cavity or vitreous was noted in four patients.
Findings:
- Bullous retinoschisis in these infants eventually reattached spontaneously.
- Pigment demarcation lines were observed after reattachment.
- Family history confirmed XLRS in two patients; further investigation revealed affected male relatives in the other three.
Implications:
- Recognizing this uncommon presentation of XLRS is crucial for accurate diagnosis in infants.
- Appropriate genetic counseling is essential for affected families.
- Surgical intervention is generally not indicated, and the visual prognosis is often favorable despite initial severe appearance.
Abstract:
Five infants who presented with nystagmus and/or strabismus were found to have bilateral highly elevated bullous retinoschisis involving the macula. Haemorrhage was present within the schisis cavity or the vitreous in four patients. The bullous retinoschisis eventually reattached spontaneously leaving pigment demarcation lines. A family history of X linked retinoschisis (XLRS) was known in two of the patients but in the other three subsequent investigation showed other male family members to be affected. It is important to recognise this uncommon presentation of XLRS so that the correct diagnosis is made and appropriate genetic counselling is given. Surgical treatment is not usually indicated and the visual prognosis is better than the initial appearance may suggest.