Congenital hereditary retinoschisis: Evolution at the initial stage

Abstract

Two male infants with congenital hereditary retinoschisis are presented. The disease was detected when they were 11 and 20 months old, respectively, and they were followed up during the subsequent months. Initially, they both revealed a tremendously elevated retinoschisis lesion in both equatorial an peripheral retina, which was associated with foveal retinoschisis. The peripheral ballooning retinoschisis regressed gradually in the following months, and a relatively flat retinoschisis was left. It was proposed that the early stage of the disease is characterized by a bullous retinoschisis followed by its spontaneous regression during the first several years of life. A survey of the literature favors our view.

Infantile presentation of X linked retinoschisis.

“…16 Others have noted changes in the elevation and distribution of the retinoschisis cavities during infancy.22-24 In nine of 10 eyes reported here, the bullous retinoschisis cavity spontaneously flattened leaving only pigment demarcation lines. The presence of pigment lines is significant as it would suggest that there had been an underlying retinal detachment (J D M Gass, in Spontaneous flattening of the retina is known to occur in non-rhegmatogenous conditions such as retinopathy of prematurity28 and optic disc coloboma,29 and has been described in XIRS.2 30 The mechanism leading to spontaneous flattening of the schisis cavity (and any underlying retinal detachment) in XLRS, however, remains unclear.…”

Null Retinoschisin-Protein Expression from anRS1c354del1-ins18 Mutation Causing Progressive and Severe XLRS in a Cross-Sectional Family Study

“…Some XLRS males exhibit severe disease even at very early age, including bilateral bullous schisis5,34–36 and vitreous hemorrhages and retinal detachment 35,37–39. By contrast, the two affected young boys in our family, despite the absence of RS1 protein with this mutation, had only macular schisis and retained nearly normal ERG response.…”

X-Linked Retinoschisis

“…[17][18][19][20] Vitreous hemorrhaging as a child and neovascular glaucoma in the same eye as an adult were noted for one of the brothers who also developed diabetes mellitus. Two brothers associated loss of functional vision after reported trauma.…”