RT Journal Article
SR Electronic
T1 Bullous X linked retinoschisis: clinical features and prognosis
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 622
OP 624
DO 10.1136/bjophthalmol-2017-310593
VO 102
IS 5
A1 Anne-Marie Hinds
A1 Abigail Fahim
A1 Anthony T Moore
A1 Sui Chien Wong
A1 Michel Michaelides
YR 2018
UL http://bjo.bmj.com/content/102/5/622.abstract
AB 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.