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SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS: Clinical Presentation and Outcomes
Gwendoline Piquin1, Youssef Abdelmassih1, Gilles Martin1
1Pediatric Ophthalmology Department, Rothschild Foundation Hospital, Paris, France; and.
Insights
Early-onset X-linked retinoschisis in children presents severely, often with peripheral retinoschisis extending to the macula. Surgical intervention is frequently required for complications, but outcomes can vary.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- X-linked retinoschisis (XLRS) is a genetic retinal disorder affecting primarily males.
- Early-onset XLRS can lead to significant visual impairment in children.
- Understanding the clinical spectrum and outcomes is crucial for timely management.
Purpose of the Study:
- To characterize the clinical presentation and outcomes of children with early-onset X-linked retinoschisis.
- To identify common signs, complications, and treatment responses in this pediatric population.
Main Methods:
- Retrospective case series of children diagnosed with symptomatic X-linked retinoschisis before age 2.
- Data collected included presenting symptoms, clinical findings, treatments, and visual outcomes.
- Optical coherence tomography (OCT) was utilized for detailed retinal assessment.
Main Results:
- Seven children (14 eyes) were analyzed, with strabismus being the most common initial symptom.
- Peripheral retinoschisis was present in 93% of eyes, often bullous and involving the macula (foveoschisis).
- Vitreous hemorrhage and retinal detachment occurred in 21% of eyes; 42% required surgery.
Conclusions:
- Early-onset X-linked retinoschisis manifests as a severe condition with widespread retinal involvement.
- Peripheral retinoschisis extending to the macula is a consistent finding.
- Complications necessitate surgical intervention, and while visual acuity varies, persistent detachment was not observed.
Purpose:
To describe clinical characteristics and outcomes of children with early-onset X-linked retinoschisis.
Methods:
In this retrospective consecutive case series, we included children diagnosed with symptomatic X-linked retinoschisis younger than 2 years. Presenting signs, clinical characteristics, treatments, and outcomes were recorded.
Results:
Seven patients (14 eyes) with a mean age of 17.14 ± 6.28 months were included. Strabismus was the most common presenting symptom (6 of 7 patients, 86%). Clinical signs at the first diagnosis included peripheral retinoschisis in 13 eyes (13/14, 93%), of which 5 (5/13, 38%) were bullous, vitreous hemorrhage in 3 eyes (3/14, 21%), and retinal detachment in 3 eyes (3/14, 21%). The macula was involved in all eyes: It was detached in 2 eyes (2/14, 14%) and involved in the peripheral schisis in 4 eyes (4/14, 29%). In all remaining eyes, optical coherence tomography revealed foveoschisis. Six eyes (6/14, 42%) received surgery. At the last follow-up, visual acuity, when available, ranged from no light perception to 20/40, and no children had persistent retinal detachment.
Conclusion:
Children with early-onset X-linked retinoschisis had severe forms. All children had peripheral retinoschisis which was often bullous and extended to the macula. Diagnosis is often clinical but handheld optical coherence tomography can be helpful in atypical forms. Complications requiring surgical management are frequent.
