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Usher Syndrome - USH2A
23 year old female Extended HPI: Vision trouble for about five years. She has some trouble with night vision and was told that her retina looked abnormal.  There are no family members that are known to have an inherited retinal disease. 
Medical Hx: Sensorial Neural Hearing Loss. Chorionic migranes. 
Systemic Meds: None.
VA 20/32 OD, 20/25 OS
Color vision normal

Heterozygous for USH2A pathological mutation and for an USH2A VUS

Usher Syndrome - USH2A

23 year old female Extended HPI: Vision trouble for about five years. She has some trouble with night vision and was told that her retina looked abnormal. There are no family members that are known to have an inherited retinal disease.
Medical Hx: Sensorial Neural Hearing Loss. Chorionic migranes.
Systemic Meds: None.
VA 20/32 OD, 20/25 OS
Color vision normal

Heterozygous for USH2A pathological mutation and for an USH2A VUS

gyrate_maknu_042723_05.jpg gyrate_maknu_042723_02.jpg RP_USH2Ax2mutations_kawel_12192022_02.jpg RP_USH2Ax2mutations_kawel_12192022_01.jpg RP_USH2Ax2mutations_kawel_12192022_08.jpg