This 12 year old boy first had difficulty with his acuity at age 9 when he had difficulty seeing the target during archery class. One year later he failed a vision screen at this pediatrician. He denies sun gazing and playing laser pointers. He has no difficulty with color vision, no night blindness and no photophobia.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Occult Macular Dystrophy | RP1L1 | Arg45Trp CGG>TGG | AD |