Skip to main content

Table 1 Clinical features of patients with cone-rod dystrophy.

From: A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Patient

Sex

Age at onset

Symptoms

Age at exam.

Visual acuity OD/OS

Fundus

Visual field

ERG OD/OS

Scotopic dim blue

Photopic single white flash

Light adapted 30-Hz flickers

II:2

F

 

None

64

20/20

20/16

Mild attenuation of retinal vessels

NA

40 μV/23 μV

181 μV/175 μV

90 μV/94 μV

II:3

F

40

Nystagmus

Night blindness

Photophobia

70

20/40

20/32

Mild attenuation of retinal vessels.

Macular atrophy

OD:relative 20° central scotoma

OS:absolute 20-30° central scotoma

Normal PVF on both eyes

124 μV/173 μV

56 μV/60 μV

46 μV/56 μV

III:1

F

32

Nystagmus

No photophobia

No night blindness

44

20/100

20/100

Severe macular atrophy

Rare bone spicule-shaped pigment deposits

Absolute 30° central scotoma and normal PVF on both eyes

48 μV/35 μV

44 μV/42 μV

32 μV/41 μV

III:2

M

 

None

38

20/25

20/20

Normal

Normal

253 μV/275 μV

30 μV/41 μV

70 μV/84 μV

III:9

F

35

Nystagmus

Night blindness

Photophobia

45

20/25

20/25

Mild attenuation of retinal vessels

Normal

130 μV/121 μV

34 μV/46 μV

41 μV/40 μV

III:10

M

Early childhood

Night blindness

Mild photophobia

38

20/32

20/32

Posterior pole atrophy

Mild attenuation of retinal vessels

Absolute 10° central scotoma and normal PVF on both eyes

157 μV/160 μV

51 μV/45 μV

88 μV/77 μV

IV:1

M

 

Photophobia

1

NA

Mild attenuation of retinal vessels.

Abnormal pigmentation of the macular area.

NA

NA

IV:4

M

 

No photophobia

No night blindness

11

20/32 20/50

Posterior pole atrophy

Attenuated retinal vessels

Normal

NA/139 μV

NA/24 μV

NA/66 μV

IV:10

M

Early childhood

Nystagmus

Photophobia

No night blindness

19

20/200 20/200

Moderate pallor of the optic discs, and macular atrophy

Relative 20° central scotoma and normal PVF on both eyes

91 μV/89 μV

20 μV/13 μV

39 μV/42 μV

  1. PVF = Peripheral Visual Field
  2. OD/OS = oculus dexter/oculus sinister
  3. NA = Not available
  4. Normal value ranges are:
  5. Scotopic dim blue: 160 μV - 250 μV
  6. Photopic single white: 70 μV - 150 μV
  7. Light adapted 30-Hz flickers: > 110 μV