☑It is a rare syndrome that mainly affects the kidneys and eyes.
☑SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood.
☑The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function
☑Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue.
☑Nephronophthisis typically leads to end-stage kidney disease by adolescence.
☑SLS affects the eyes by causing varying degrees of retinal dystrophy, which is progressive wasting of the retina (the part of the eye that senses light and sends images to the brain).
☑Some children with SLS have a severe type of retinal dystrophy at birth called Leber congenital amaurosis (LCA).
☑Symptoms of LCA include severe farsightedness, light sensitivity (photophobia), and nystagmus.
☑Other children with SLS do not have LCA but later develop symptoms of a retinal dystrophy called retinitis pigmentosa (RP).
☑Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to blindness.

Post a Comment

Previous Post Next Post