X-linked retinoschisis Fangyuan
X-linked Retinoschisis Fangyuan
X-linked retinoschisis(XLRS) the leading cause of juvenile macular degeneration in males a The clinical feature: early onset visual loss and bilateral foveal schisis( star-shaped microcystic macular changes) and inferotemporal schiSts, and vitreous veils a recessive X-linked mode of inheriance
X-linked retinoschisis ( XLRS ) ◼ the leading cause of juvenile macular degeneration in males . ◼ The clinical feature : early onset visual loss and bilateral foveal schisis( star-shaped microcystic macular changes) and inferotemporal schisis, and vitreous veils. ◼ a recessive X-linked mode of inheriance
Epidemiology XLRS has a world-wide prevalence ranging from 1:5000to1:25000 O■ ○ l61 6 v52 v54
Epidemiology ◼ XLRS has a world-wide prevalence ranging from 1:5000 to 1:25000
pathophysiology a Separation in the nerve epithelium layer of retina lav y in the nerve fiber layer and in the ganglion cell main yer The exact cause of retinal separation in XLRS unclear. a The mutation of XlrS1 gene- the dysfunction of retinoschisin reduce adhesion of the retinal → retinoschisis a the dysfunction of retinoschisin- >affect muller cells- inner laver retinoschisin is less
pathophysiology ◼ Separation in the nerve epithelium layer of retina , mainly in the nerve fiber layer and in the ganglion cell layer ◼ The exact cause of retinal separation in XLRS is unclear. ◼ The mutation of XLRS1 gene→ the dysfunction of retinoschisin → reduce adhesion of the retinal →retinoschisis ◼ the dysfunction of retinoschisin→ affect muller cells→ inner layer’ retinoschisin is less
Clinical findings ■V1S1 on loss ateral toveal schists a peripheral and bullous schisis other retinal findings vitreous changes other ocular findings
Clinical findings ◼ vision loss ◼ bilateral foveal schisis ◼ peripheral and bullous schisis ◼ other retinal findings ◼ vitreous changes ◼ other ocular findings