SR2769

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XL Retinoschisis (IIIB1)

Male

SR2769

XL Retinoschisis (IIIB1)

Male

Highlighted Images

OD	OS
Age at visit: 7 years
20/40 -2	20/40 +2

History

This 7 year old boy failed a vision screening test at his pediatrician 5 months ago.

Pedigree

Age at visit: 7 years

OD		OS
20/40 -2		20/40 +2

OD		OS
20/40 -2		20/40 +2

OD		OS
20/40 -2 OCT Stack		20/40 +2 OCT Stack

OD		OS
20/40 -2		20/40 +2

OD		OS
20/40 -2		20/40 +2

Age at visit: 9 years

OD		OS
20/50 +2 sc		20/32 sc

OD		OS
20/50 +2 sc OCT Stack		20/32 sc OCT Stack

OD		OS
20/50 +2 sc		20/32 sc

Age at visit: 11 years

OD		OS
20/50 sc OCT Stack		20/40 -1 sc OCT Stack

OD		OS
20/50 sc		20/40 -1 sc

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinoschisis	RS1	IVS1-1 G>A		XL

Disease:

XL Retinoschisis

Gene:

RS1

Allele 1:

IVS1-1 G>A

Allele 2:

Inheritance:

Cite this case

Case

SR2769

Student Mode

XL Retinoschisis (IIIB1)

Male

Male

Hidden

SR2769

Student Mode

XL Retinoschisis (IIIB1)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR2769

Student Mode

XL Retinoschisis (IIIB1)

Male

Male

Hidden

SR2769

Student Mode

XL Retinoschisis (IIIB1)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree