SR1838

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MIDD (IID1a)

Female

SR1838

MIDD (IID1a)

Female

Highlighted Images

OD	OS
Age at visit: 41 years
20/20	20/20

History

This 41 year old woman has experienced episodes of "twinkling lights" in both eyes and difficulty transitioning from light to dark over the past 8 months. She has no diabetes or hearing loss.

Pedigree

Age at visit: 41 years

OD		OS
20/20		20/20

OD		OS
20/20		20/20

OD		OS
20/20		20/20

OD		OS
20/20 OCT Stack		20/20 OCT Stack

OD		OS
20/20		20/20

OD		OS
20/20		20/20

Age at visit: 42 years

OD		OS
20/15 -2 OCT Stack		20/15 -1 OCT Stack

OD		OS
20/15 -2		20/15 -1

Age at visit: 44 years

OD		OS
20/20		20/16

OD		OS
20/20 OCT Stack		20/16 OCT Stack

OD		OS
20/20		20/16

OD		OS
20/20		20/16

Age at visit: 45 years

OD		OS
20/16 -2 OCT Stack		20/16 -1 OCT Stack

OD		OS
20/16 -2		20/16 -1

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
MIDD	MT-TL1	3243 A>G		MT

Disease:

MIDD

Gene:

MT-TL1

Allele 1:

3243 A>G

Allele 2:

Inheritance:

Cite this case

Case

SR1838

Student Mode

MIDD (IID1a)

Female

Female

Hidden

SR1838

Student Mode

MIDD (IID1a)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR1838

Student Mode

MIDD (IID1a)

Female

Female

Hidden

SR1838

Student Mode

MIDD (IID1a)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree