Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

Abstract

BackgroundX-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 presentationWe 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.ConclusionsEarly 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.

Acquired retinoschisis and vitreous hemorrhage as unusual findings in choroideremia: Case report

“…Rarely can a localized large intra-schisis hemorrhage secondary to degenerative retinoschisis simulate a choroidal melanoma. 11 Finally, a neovascular lesion cannot be excluded 4,5 since the patient was allergic to fluorescein so the fluoarangiographic exam could not be carried out. To our knowledge, this is the first fundoscopic and OCT report of peripheral-acquired retinoschisis in a CHM patient.…”

The electrophysiological features of X-linked juvenile retinoschisis in a young male: a case report

“…Approximately half of affected patients are also affected by peripheral retinoschisis. 6 Usually, prophylactic treatment for XLRS is not warranted. 7 Surgical interventions are necessary in the case of vitreous haemorrhage, retinal detachment or other serious conditions.…”

Retinal detachment repair with perfluoro-N-octane endotamponade in an infant with juvenile X-linked retinoschisis

“…Juvenile X-linked retinoschisis (XLRS) is a common inherited macular degeneration in young males with an estimated global prevalence of 1:5000 to 1:20000, 1 associated with a mutation in the RS1 gene on chromosome Xp22. While diagnosis is most often made at school age, cases presenting within the first year of life have been reported, 2 , 3 which is postulated to represent a more progressive form of disease. 3 Concomitant retinal detachments are estimated to occur in 20%.…”

“…While diagnosis is most often made at school age, cases presenting within the first year of life have been reported, 2 , 3 which is postulated to represent a more progressive form of disease. 3 Concomitant retinal detachments are estimated to occur in 20%. 1 …”