Table 1.
Patient demographics, genotypes, and phenotypic findings
| Patient ID | Gender | Ethnicity | Age at diagnosis (years) | Age at most recent evaluation (years) | Variants and ACMG classification | BCVA (OD, OS) | Phenotype |
|---|---|---|---|---|---|---|---|
| P1 | M | Caucasian | 50 | 70 |
c.1450C>T: p.(Arg484Cys) [VOUS] c.2987del: p.(Gly996Aspfs*) [Likely pathogenic] |
20/250, 20/300 | Sectoral cone–rod dystrophy |
| P2 | F | South Chinese | 37 | 41 |
c.1475G>A: p.(Trp492*) [Pathogenic] c.3177_3180del: p.(Asn1060*) [Pathogenic] |
20/30, 20/30 | Cone dystrophy and hearing loss |
| P3 | F | Puerto Rican | 46 | 50 | c.2029C>T: (p.Arg677*) homozygous [Pathogenic] | 20/400, 20/400 | Cone–rod dystrophy |
M male, F female, ACMG American College of Medical Genetics and Genomics, VOUS variant of unknown significance, BCVA best corrected visual acuity, OD right eye, OS left eye