Table 3.
Genotype–phenotype correlation based on the presenting and follow-up IOP, corneal diameter, cup-to-disc ratio, and visual acuity in patients harboring various combinations of CEP164 variants.
| Genotype Combinations in PCG Cases (Number of Cases) |
Intraocular Pressure (mmHg) | Cup-to-Disc Ratio | Corneal Diameter (mm) | Visual Acuity (logMAR) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| At Presen-tation | After 3 Months | After 1 Year | At Presen-tation | After 3 Months | After 1 Year | At Presen-tation | After 3 Months | After 1 Year | At Presen-tation | After 3 Months | After 1 Year | |
| Cases with unique heterozygous CEP164 alleles only (n = 9) |
25.75 ± 6.63 | 12.86 ± 3.8 | 11.63 ± 1.69 | 0.48 ± 0.13 | 0.54 ± 0.22 | 0.46 ± 0.2 | 13.06 ± 0.98 | 12.71 ± 1.19 | 13.1 ± 0.74 | NA | NA | 1.19 ± 0.47 |
| Cases with compound heterozygous CEP164 alleles (n = 3) |
28 ± 6.93 |
15.33 ± 5.03 | 10.33 ± 2.52 | NA | 0.47 ± 0.23 | 0.5 ± 0.26 | 13.67 ± 0.58 | 13.33 ± 0.58 | 13.67 ± 0.29 | NA | NA | |
| Cases with co-occurring CEP164 alleles along with heterozygous alleles of other genes (n = 4) | 24.25 ± 6.65 | NA | 17.67 ± 5.86 | 0.83 ± 0.06 | NA | 0.63 ± 0.31 | 15 ± 2.29 |
NA | NA | NA | NA | 2.34 ± 0.75 |
| * p value (Unique heterozygous CEP164 alleles versus co-occurring CEP164 and alleles of other genes) | 0.72 | NA | 0.019 | 0.004 | NA | 0.284 | 0.056 | NA | NA | NA | NA | 0.053 |
| * p value (Compound heterozygous CEP164 alleles versus co-occurring CEP164 and alleles of other genes) |
0.5 | NA | 0.117 | NA | NA | 0.598 | 0.384 | NA | NA | NA | NA | NA |
* p value is based on Student’s t test; NA: Data are not available. Bold format represents the significant p values.