Table 1.
Patient Characteristics.
| ID | Age | Gender | Refraction [dpt] (sph/cyl) |
OD OS |
BCVA | ODOS | Gene | Zygosity | Exons/ Introns |
Nucleotide | Protein | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IV.3 | 48 | m | −0.75/−2.25 −0.75/−1.00 |
20/32 20/50 |
RHO | het | Exon 3 | c.644C>T | p.Pro215Leu | [18] | ||
| IV.4 | 45 | f | +3.00/−2.25 +3.25/−2.50 |
HM HM |
ABCA4 | het | Exon 6 | c.740A>T | p.(Asn247Ile) | [19] | ||
| het | Exon 31 | c.4594G>A | p.(Asp1532Asn) | [20,21] | ||||||||
| CACNA1F | het | Exon 8 | c.1079C>T | p.(Ser360Phe) | novel | |||||||
| V.1 | 13 | m | −1.75/−4.25 −2.75/−3.25 |
20/50 20/40 |
CACNA1F | hem | Exon 8 | c.1079C>T | p.(Ser360Phe) | novel | ||
| V.2 | 11 | m | +4.50/−0.50 +6.00/−1.25 |
20/200 20/80 |
MITF | het | Exon 7 | c.710+1G>A | splice site | [22] | ||
f: female, m: male, OD: right eye, OS: left eye, BCVA: best corrected visual acuity, HM: hand motion, het: heterozygous, hem: hemizygous.