Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

Table 1

Ophthalmic examination results of individual V:1 with nanophthalmos caused by a homozygous variant in PRSS56.

Age (y)

BCVA

Refraction^† (DS/DC)

IOP (mmHg)

CCT (µm)

WTW (mm)

K1/K2 (D)

AL (mm)

ACD (mm)

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

11

0.3

0.6

+12.5/+1.0 × 125°

+12.5

17

16

515

513

UA

UA

UA

UA

14.8

14.4

UA

UA

12

0.32

0.63

+13.75/−0.5°

+13.75/−0.5°

21

20

UA

UA

UA

UA

UA

UA

UA

UA

UA

UA

13

0.2

0.4

+13.75/−0.5°

+13.75/−0.5°

20

19

UA

UA

UA

UA

UA

UA

UA

UA

UA

UA

15

0.32

0.4

+13.75/−0.5°

+13.75/−0.5°

21

15

510

515

11.4

11.4

51.3/52.3

51.2/52.5

15.69

16.27

2.93

2.85

16.5

0.32

0.4

+13.5/−1.0

+13.5

19

14

UA

UA

11.3

11.5

UA

UA

16.36

16.26

2.72

2.89

ACD, anterior chamber depth (normal values 3.14 ± 0.33 mm) [24]; AL, axial length (normal values 23.42 ± 0.46 mm) [25]; BCVA, best-corrected visual acuity; CCT, central corneal thickness (normal values 552.6 ± 36.8 μm) [25]; D, diopter; DC, diopter cylinder; DS, diopter sphere; IOP, intraocular pressure; K1/K2, flat/steep keratometry readings (normal values K1 ≤46.1 D, K2 ≤47.4 D) [26]; LE, left eye; RE, right eye; y, years; UA, unavailable data; and WTW, white-to-white corneal diameter. ^†subjective values.