This 11 year old male has moderately reduced visual acuity that was recently discovered on a routine school screening.
Refraction OD:     | -0.25 +1.00 x 170 |
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Refraction OS:     | -0.75 +1.00 x 170 |
The clinical features favoring the diagnosis of X-linked retinoschisis in this patient include stellate macular schisis visible on ophthalmoscopy, cystic spaces in the inner nuclear layer visible on OCT, and a similarly affected maternal grandfather.
Age at visit: 11 years |
Age at visit: 12 years |
Age at visit: 13 years (Visit 2) |
OD | OS | ||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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XL Retinoschisis | RS1 | Pro203Arg CCG>CGG | XL |