Background/Aims A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retina. This study describes the characteristics and prognosis of the bullous form of XLRS.
Methods A retrospective case series was performed of nine patients with molecularly proven bullous XLRS seen at a single tertiary centre.
Results All cases of bullous peripheral schisis were bilateral, with one unilateral case at presentation which developed into bilateral bullous schisis over time. The mean age of onset was 1.9 years (range: 1 month–7 years, SD: 2.1 years) and at clinical diagnosis was 5.9 years (range: 1 month–27 years, SD: 9.0 years). Mean follow-up was 11 years (range: 6 months–36 years, SD: 10.8 years). Strabismus was the most common presentation (n=7). Other presenting complaints included decreased vision, floaters and an irregularly shaped pupil. The most frequently associated ocular features were strabismus (100%), vitreous haemorrhage (4/18 eyes, 22%), nystagmus (2/9, 22%) and persistent fetal vasculature (1/18, 6%). Localised tractional detachment was seen in 2/18 (11%) eyes, total detachment that underwent surgical repair in 1/18 (6%) and pigmented demarcation lines in a further 22% of the eyes. There was one eye with exudative retinal detachment.
Conclusion In XLRS, bullous schisis may be congenital or develop soon after birth and most commonly presents with strabismus. Cases may be complicated by some form of retinal detachment, which may be tractional or a Coats-like exudative detachment.
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A-MH and AF contributed equally.
Contributors A-MH participated in study design, data collection and manuscript preparation. AF participated in data collection and manuscript preparation. ATM participated in data collection. MM participated in study design, data collection and manuscript editing.
Funding This work was supported by the National Institute for Health Research Biomedical Research Centre (grant number BRC2_001), Moorfields Eye Hospital Special Trustees (grant number ST 13 10 F), Moorfields Eye Charity (grant number MEC 13 10 A), and the Foundation Fighting Blindness (grant number CD-CL-0711–0518-UCL). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.
Competing interests AF owns stock in Ionis Pharmaceuticals (Carlsbad, California, USA). MM consults for Meira GTx (London, UK), Ora (Andover, Massachusetts) and Shire (Hampshire, UK). A-MH and ATM have no financial disclosures.
Ethics approval Moorfields Eye Hospital.
Provenance and peer review Not commissioned; externally peer reviewed.