This 17 year old male was born at 27 weeks gestation and weighed 2 pounds. He had mild retinopathy of prematurity that did not require treatment. An unusual fundus appearance was noticed incidentally at age 17. At age 22 he began to have difficulty seeing in dim light and some constriction of his visual field.
Age at visit: 17 years |
OS | |||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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XL Retinitis Pigmentosa | RPGR | Tyr1085 del1taC | XL |