SR84

Age at visit: 7 years
OD	OS
20/40	20/40

History

This 5 year old boy has constricted visual fields that were first noticed when he started to walk (before age 1 year).

Refraction OD:	+3.50 +1.75 x 140
Refraction OS:	+3.00 +2.00 x 50

Pedigree

Teaching Points

The clinical features supporting the diagnosis of early childhood onset retinal dystrophy (ECORD) in this patient include: constricted visual fields noticed in the first year of life; reduced acuity, a non-recordable ERG, pink optic nerve heads; hyperopia; and, normally sighted parents.

Age at visit: 5 years

OD		OS
20/40		20/40

Age at visit: 7 years

OD		OS
20/40		20/40

OD		OS
20/40 OCT Stack		20/40 OCT Stack

OD		OS
20/40		20/40

Age at visit: 9 years

OD		OS
20/32 -1		20/32 -2

OD		OS
20/32 -1 OCT Stack		20/32 -2 OCT Stack

OD		OS
20/32 -1		20/32 -2

Age at visit: 9 years (Visit 2)

OD		OS
20/32 -1		20/32 -1

OD		OS
20/32 -1 OCT Stack		20/32 -1 OCT Stack

OD		OS
20/32 -1		20/32 -1

Age at visit: 11 years

OD		OS
20/25 -2		20/25 -2

OD		OS
20/25 -2 OCT Stack		20/25 -2 OCT Stack

OD		OS
20/25 -2		20/25 -2

Age at visit: 12 years

OD		OS
20/32		20/32

OD		OS
20/32 OCT Stack		20/32 OCT Stack

OD		OS
20/32		20/32

Age at visit: 13 years

OD		OS
20/32		20/32

OD		OS
20/32 OCT Stack		20/32 OCT Stack

OD		OS
20/32		20/32

Age at visit: 15 years

OD		OS
20/32 +2		20/25 -2

OD		OS
20/32 +2 OCT Stack		20/25 -2 OCT Stack

OD		OS
20/32 +2		20/25 -2

Age at visit: 17 years

OD		OS
20/32 +1		20/50 +1

OD		OS
20/32 +1 OCT Stack		20/50 +1 OCT Stack

OD		OS
20/32 +1		20/50 +1

Case

Student Mode

ECORD (IA2c)

Male

Male

Hidden

SR84

Student Mode

ECORD (IA2c)

Male

Male

Highlighted Images

History

Pedigree

Teaching Points

Diagnosis & molecular findings

Case

SR84

Student Mode

ECORD (IA2c)

Male

Male

Hidden

SR84

Student Mode

ECORD (IA2c)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Teaching Points Collapse

Diagnosis & molecular findings

History

Pedigree

Teaching Points