Enhanced S Cone Syndrome - NR2E3 Mutations
|
|
80 year old man Diagnosed at age 12 with retinitis pigmentosa. His central vision has been poor for a long time. He had surgery for nystagmus 3 times. He has worn glasses ever since he was 3 and he was bumping into walls when he was little. Night blindness was noticed by his mother at a young.
Mutations were confirmed in NR2E3 (Enhanced S Cone Syndrome)
VA OD HM; OS 6/200
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 432 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 413 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 442 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 447 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 423 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 404 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 414 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 390 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 607 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 422 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 362 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 423 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 381 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 347 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 377 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 370 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 373 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 356 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 397 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 398 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 338 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 367 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 345 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 371 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 343 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 352 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 440 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 347 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.     (0 votes)
|
|
|
|
80 year old man Diagnosed at age 12 with retinitis pigmentosa. His central vision has been poor for a long time. He had surgery for nystagmus 3 times. He has worn glasses ever since he was 3 and he was bumping into walls when he was little. Night blindness was noticed by his mother at a young.
Mutations were confirmed in NR2E3 (Enhanced S Cone Syndrome)
VA OD HM; OS 6/200