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Table 1 Clinical examination data

From: A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Patient

Gender

Age

Nucleotide amino acid

Homozygous/heterozygous

UCVA

CVA

Corneal optical refection

Nystagmus

Globe retraction

OD

OS

OD

OS

II:5

M

34

c.1499C>G (p.S500*)

Heterozygous

1.0

1.0

1.0

1.0

Normal

II:8

F

28

c.1499C>G (p.S500*)

Heterozygous

0.6

0.7

1.0

1.0

Normal

III:1

F

5

c.1499C>G (p.S500*)

Heterozygous

0.6

0.6

0.8

0.8

Normal

III:2

F

2

c.1499C>G (p.S500*)

Homozygous

unable

unable

unable

unable

Normal

+

  1. Features of LCA8 and unaffected relatives
  2. UCVA uncorrected visual acuity, CVA corrected visual acuity, OD right eye, OS left eye, +: positive, −: negative