StoneRounds Disease Atlas SR85
SR:
Search
Not logged in
Log in Register Terms of Use
Join Teaching Session
Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR85

Case

SR85

Grid View Download View

Student Mode

Type 1 Usher Syndrome (IB1a)

Male

Male

Hidden

SR85

Grid View Download View

Student Mode

Type 1 Usher Syndrome (IB1a)

Male

Male

Highlighted Images

Age at visit: 8 years
OD OS
20/32 -1
20/32 -1

History

This 8 year old boy noticed decreased vision in dim light on Halloween the previous year. He had early difficulty hearing and received a cochlear implant in the right year at age 1 and the left ear at age 3. He did not learn to walk until 22 months. He has a homoplasmic mitochondrial variant A1115G known to be associated with aminoglycoside hearing loss (it is uncertain if he ever received a single dose of aminoglycoside).

Pedigree

Age at visit: 8 years
ODOS
20/32 -1
20/32 -1
ODOS
20/32 -1
20/32 -1
ODOS
20/32 -1 OCT Stack
20/32 -1 OCT Stack
ODOS
20/32 -1
20/32 -1
Age at visit: 16 years
ODOS
20/40
20/40 -1
ODOS
20/40
20/40 -1
ODOS
20/40
20/40 -1
ODOS
20/40 OCT Stack
20/40 -1 OCT Stack
ODOS
20/40
20/40 -1
ODOS
20/40
20/40 -1
Age at visit: 17 years
ODOS
20/25
20/25 -2
ODOS
20/25 OCT Stack
20/25 -2 OCT Stack
ODOS
20/25
20/25 -2
ODOS
20/25
20/25 -2
Age at visit: 19 years
ODOS
20/25 -1 OCT Stack
20/25 -1 OCT Stack
ODOS
20/25 -1
20/25 -1

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 1 Usher Syndrome MYO7A Gln1798Stop CAG>TAG Ile539 ins1atC AR
Disease:
Type 1 Usher Syndrome
Gene:
MYO7A
Allele 1:
Gln1798Stop CAG>TAG
Allele 2:
Ile539 ins1atC
Inheritance:
AR
Cite this case
Search Diagnostic Tree

Diagnostic Tree

False Genotype Rate:

Gene Count:

Submit Final Diagnosis

You're volunteering to be called on to describe a case.

Leaderboard

User Score