Table 1

Demographic and clinical characteristics of patients with bullous peripheral schisis

Patient # Age at clinical diagnosis
(years)		Length of follow-up (years)MutationAverage spherical equivalentLogMAR visual acuity
Right eye		LogMAR visual acuity
Left eye		PresentationPeripheral retinal findings (right)Peripheral retinal findings (left)
10.10.6c.589C>T (p.Arg197Cys)9.83.03.0Irregularly shaped pupil, esotropiaInferior bullous schisis obscuring macula at presentationInferior bullous schisis obscuring macula, which developed 2 months after initial presentation
21.259.2c.35T>A (p.Leu12His)2.61.10.6EsotropiaInferior bullous schisis with demarcation line+PFV* Previous bullous schisis flattened to shallow schisis
31.58.6c.598C>T
(p.Arg200Cys)		7.50.81.3EsotropiaInferotemporal bullous schisisInferotemporal bullous schisis
40.9213.4c.620A>C
(p.His207Pro)		1.50.7PLExotropiaInferior bullous schisisTotal retinal detachment (tractional)
51436.0c.305G>A (p.Arg102Gln)Not available0.30.0FloatersPrevious inferior bullous schisis (now resolved)Previous bullous inferior schisis through macula (now resolved)
632.5c.236G>C (p.Gly109Ala)10.31.01.0EsotropiaPrevious inferior bullous schisis through maculaPrevious inferior bullous schisis through macula
730.5Deletion of exons 4–5Not available1.10.9Reduced vision, esotropiaBullous inferior schisis with a demarcation lineBullous inferior schisis through macula
87.5c.496T>C (p.Tyr166His)0.560.01.6EsotropiaInferotemporal bullous schisisLocalised posterior pole and peripapillary tractional detachment as well as schisis
9279.6c.574C>T (p.Pro192Ser)6.252.01.0StrabismusTractional detachment nasal to disc and 360° ridge retinal detachment at equator as well as schisisPeripheral exudative detachment

  • ↵*PFV, persistent fetal vasculature. Nucleotide and amino acid positions refer to ensembl transcript ENST00000379984.

  • PL, perception of light.