From: The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy
Patient | Age | Sex | Visual acuity | Clinical findings (Grade) | Nonreflective cavities | Macular hole | Whole gene duplication in PRDM13 gene | Heterozygous mutations in ABCA4 gene | Full field ERG | mfERGs | |
---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  | Right eye | Left eye |  |  |  |  |  |  |  |
P1 | 10 dys | Male | N | N | confluent drusen-like lesions (grade 2) | N | N | Y | Y | Patient refused | Patient refused |
P2 | 16 yrs | Female | 20/100 | 20/125 | macular caldera (grade 3) | Y | N | Y | Y | Normal | Abnormal |
P3 | 40 yrs | Male | 20/63 | 20/50 | macular caldera (grade 3) | Y | N | Y | Y | Normal | Abnormal |
P4 | 68 yrs | Male | 20/63 | 20/50 | macular caldera (grade 3) | Y | Y | Y | Y | Normal | Abnormal |
P5 | 8 yrs | Female | 20/20 | 20/50 | Normal | N | N | Patient refused | Patient refused | Patient refused | Patient refused |