Table 1 Demographic information and genetic diagnoses for patients 1–6.
Individual | Sex | Age (years) | Age of symptom onset (years) | Ethnicity | Refraction | CRX varianta | Variant type | Variant classificationb |
|---|---|---|---|---|---|---|---|---|
Patient 1 (GC5126) | Male | 38 | 17 | South Asian | OD: +0.75/−2.25 × 23° OS: +0.50/−2.00 × 168° | c.568_590del; p.(Pro190GlyfsTer38) | Frameshift | Likely pathogenic |
Patient 2 (GC31119) | Male | 66 | 54 | Not stated | Not available | c.127 C > T; p.(Arg43Cys) | Missense | Pathogenic |
Patient 3 (GC22925) | Male | 74 | 50 | Other | Not available | c.121 C > T; p.(Arg41Trp) | Missense | Pathogenic |
Patient 4 (GC21156) | Male | 49 | 40 | Asian | OD: +0.50/−1.00 × 180°OS: −0.25/−0.50 × 150° | c.615del; p.(Ser206ProfsTer13) | Frameshift | Likely pathogenic |
Patient 5 (GC22346) | Male | 50 | 45 | Not stated | OD: +4.25/−0.75 × 93°OS: +4.00/−0.75 × 91° | Whole gene deletion | Deletion | Pathogenic |
Patient 6 | Male | 26 | 26 | White Caucasian | Not available | c.605del; p.(Cys220SerfsTer17) | Frameshift | Likely pathogenic |
