Table 1 Clinical data of patients with Sorsby fundus dystrophy.
From: A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
Patient | Gender | Onset | Age at examination | Visual acuity at Examination | Age at CNV occurrence | Chest computed tomography |
|---|---|---|---|---|---|---|
Family 1: Mutation in TIMP3, exon 5, c.Y191C | ||||||
III:1 | M | 40 | 65 | RE: CF | RE: 40 | Severe emphysema |
LE: CF | LE: 42 | |||||
III:2 | F | 39 | 68 | RE: CF | RE: 39 | Severe emphysema |
LE: CF | LE: 43 | |||||
III:3 | M | 34 | 60 | RE: CF | RE: 34 | Mild emphysema |
LE: 20/400 | LE: 40 | |||||
III:4 | F | 29 | 54 | RE:20/200 | RE: 29 | Mild emphysema |
LE:20/200 | LE: 33 | |||||
IV:1 | M | 23 | 45 | RE:20/20 | RE: 35 | Air trapping |
LE:20/200 | LE: 23 | |||||
V:1 | M | asymptomatic | 16 | RE:20/20 | No CNV | Air trapping (cardiac malformation) |
LE:20/20 | RE-LE | |||||
V:2 | M | asymptomatic | 14 | RE:20/20 | No CNV | Normal imaging |
LE:20/200 | RE-LE | |||||
Family 2 Mutation in TIMP3, exon 1, c.S38C | ||||||
III:2 | M | 50 | 72 | RE: CF | No CNV | Air trapping Bronchiectasis |
LE: CF | RE-LE | |||||
III:3 | M | 40 | deceased | RE: CF | RE: 40 | Not practiced Deceased |
LE: CF | LE: No CNV | |||||
III:6 | F | 49 | 73 | RE: CF | No CNV | Air trapping Bronchiectasis |
LE: CF | RE-LE | |||||
