Table 1. Fundus autofluorescence type I patients. Pathogenic variants in the ABCA4 gene and clinical data.
| Pt | S |
Pathogenic variants |
Visual acuity |
Age of onset/ data collect/ disease duration (years) | |||
|---|---|---|---|---|---|---|---|
|
Allele 1 |
Allele 2 |
||||||
| Nucleotide change | Protein change | Nucleotide change | Protein change | RE LE | |||
| 1• |
F |
c.4926C>G |
p.Ser1642Arg |
c.5882G>A |
p.Gly1961Glu |
20/200
20/200 |
12/30/18 |
| c.5044_5058del15‡ |
p.Val1682_Val1686del‡ |
|
|
||||
| 9 |
M |
c.6112C>T |
p.Arg2038Trp |
c.6320G>A |
p.Arg2107His |
20/200
20/150 |
11/35/24 |
| 14 |
M |
not detected |
|
not detected |
|
FC 2m
20/40 |
30/42/12 |
| 31• |
M |
c.1622T>C |
p.Leu541Pro |
c.3386G>T |
p.Arg1129Leu |
N/A
N/A |
N/A/23/ N/A |
| c.4328G>A |
p.Arg1443His |
|
|
||||
| 49• |
M |
c.5282C>G |
p.Pro1761Arg |
c.2345G>A |
p.Trp782* |
20/400
20/400 |
15/25/10 |
| c.6316C>T |
p.Arg2106Cys |
|
|
||||
| 43• |
F |
c.5882G>A |
p.Gly1961Glu |
c.66G>T |
p.Lys22Asn |
20/60
20/60 |
19/20/1 |
| 51• |
M |
c.1622T>C |
p.Leu541Pro |
c.5882G>A |
p.Gly1961Glu |
20/30
20/30 |
10/11/1 |
| c.3113C>T |
p.Ala1038Val |
|
|
||||
| 28 |
M |
c.70C>T |
p.Arg24Cys |
c.1804C>T |
p.Arg602Trp |
20/50
20/60 |
16/26/10 |
| 33§• |
M |
c.3862+1G>A† |
p.? |
c.3862+1G>A† |
p.? |
20/200
20/200 |
10/10/0 |
| 35• |
M |
c.6079C>T |
p.Leu2027Phe |
c.6250G>C |
p.Ala2084Pro |
20/25
20/25 |
20/20/0 |
| 48• |
F |
c.5882 G>A |
p.Gly1961Glu |
c.1364T>A |
p.Leu455Gln |
20/60
20/150 |
32/32/0 |
| c.3113 C>T |
p.Ala1038Val |
|
|
||||
| 36• | F | c.1804C>T | p.Arg602Trp | not detected | 20/25 20/25 | 7/28/21 | |
Pt, Patient; S, Sex; N/A, not available; FC, Finger counting. Novel variant. • Segregation analysis performed †Homozygous variants ‡c.5044_del15bp, nonframeshift deletion (c.5044_5058delGTTGCCATCTGCGTG). § Consanguinity Families: Siblings: 41(Table 4) and 49. Mother 44 (Table 3) and daughter 43. Mother 45 (Table 3) and daughter 36.