SR2565

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR2565

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS

History

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.

Pedigree

Age at visit: 17 years
Age at visit: 22 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Tyr1085 del1taC   XL
Gene:
Allele 1:
Tyr1085 del1taC
Allele 2:
 
Inheritance:
XL
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