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Case Report of an Atypical Early Onset X-linked Retinoschisis in Monozygotic Twins

Case Reports

Case Report of an Atypical Early Onset X-linked Retinoschisis in Monozygotic Twins

Vittoria Murro et al. BMC Ophthalmol.


Background: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression.

Case presentation: We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients.

Conclusions: Early onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy.

Keywords: Bullous peripheral schisis; Case report; Juvenile retinoschisis; RS1; X-linked retinoschisis.


Fig. 1
Fig. 1
a The peripheral schisis covers the macular area in the right eye of Twin-A; b An intraretinal haemorrhage is present within the inferior schisis in the left eye of Twin-A; c Pre-retinal haemorrhages are clearly evident on the surface of the schisis in the right eye of Twin-B; d A haemorrhage can be seen deep in the retina in the right eye of Twin-B
Fig. 2
Fig. 2
The OCT scans (a,b) show a macular schisis involving different retinal layers (inner nuclear, outer plexiform and outer nuclear layer) which extends beyond the foveal area, in the right and left eye of twin-B; The ERG plot (c,d) shows an absent b-wave and a nearly normal a-wave (negative ERG). c right and left eye of twin-A with b/a wave ratio 0,49 and 0,89 respectively; d right and left eye of twin B with b/a wave ratio 0,07 and 0,02 respectively. The background luminance is 30 Cd/m2; Flash strength 3.000 Cds/m2; flash frequency 30.00 (Hz)

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