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
Vision loss Often be found at 5-10 vears old a visual acuity usually >20/100 a central visual acuity often significantly different between the two eyes a the infant may present with nystagmus or strabismus, due to the large size of the associated visual field defect
Vision loss ◼ Often be found at 5-10 years old ◼ visual acuity usually >20/100 ◼ central visual acuity often significantly different between the two eyes ◼ the infant may present with nystagmus or strabismus, due to the large size of the associated visual field defect
Foveal schisis Bilateral foveal schisis is the most common clinical finding in patients with XLRS (68%0-100%o Folds radiate outward in a stellate pattern from the foveola, and contain microcystic schisis cavities In older individuals, RPE atrophy and gross pigment clumping may also develop, and the overall clinical picture may resemble atrophic age-related macular degeneration(AMD)
Foveal schisis ◼ Bilateral foveal schisis is the most common clinical finding in patients with XLRS.(68%-100%) ◼ Folds radiate outward in a stellate pattern from the foveola, and contain microcystic schisis cavities. ◼ In older individuals, RPE atrophy and gross pigment clumping may also develop, and the overall clinical picture may resemble atrophic age-related macular degeneration (AMD)
Foveal schisis
Foveal schisis
Peripheral and Bullous schisis a Peripheral schisis, usually located in the inferotemporal retina, is evident in appoximately 50%o of affected individuals The cavity typically undergoes spontaneous regression With resolution of the schisis cavity, pigment demarcation lines may be seen in the adjacent retina, suggesting that a component of retinal detachment may have been present
Peripheral and Bullous Schisis ◼ Peripheral schisis , usually located in the inferotemporal retina, is evident in appoximately 50% of affected individuals. ◼ The cavity typically undergoes spontaneous regression . ◼ With resolution of the schisis cavity, pigment demarcation lines may be seen in the adjacent retina, suggesting that a component of retinal detachment may have been present
Peripheral and bullous schisis
Peripheral and Bullous Schisis
