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Table 1 Case presentations

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

  1. N No, Y Yes, dys days, yrs Years