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Table 2 Summary of ophthalmologic findings

From: NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Patient

Sex

Age at visual symptom (Years)

BVCA (Decimal)

Fundus image

OCT findings

Average retinal thickness (μm)

ERG

Other ocular disease

Right

Left

Case 1

M

–

1

0.8

No specific abnormality

Thinning of retinal thickness

209

Severely reduced in both rod and cone function

–

Case 2

F

78

0.2

0.3

No specific abnormality

Thinning of retinal thickness

226.9

n.a

Cataract

Case 3

F

52

0.03

0.2

Sever retinal degeneration with macular atrophy

Sever ellipsoid zone loss and thinning of outer nuclear layer

n.a

Extinguished

Intraocular lens

Case 4

F

60

0.05

0.02

Sever retinal degeneration with macular atrophy

Sever ellipsoid zone loss and thinning of total retinal thickness

179

Severely reduced in both rod and cone function

Intraocular lens

  1. n.a.: not available