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Table 1 Baseline Characteristics of The Family

From: A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis

 

Twin-girl

Twin-boy

Mother

Age (years)

5

5

32

Sex

Female

Male

Female

Physical Examination

-

-

-

BCVA (OD/OS)

0.2/0.15

0.7/0.3

0.2/0.2

Refractive Diopter (OD/OS)

-0.50Ds + 1.75Dc×95/

-1.50Ds + 3.50Dc×95

+ 2.50Ds + 2.25Dc×80/ +0.75Ds + 2.75Dc×110

-2.25Ds + 2.00Dc×80/

-2.25Ds + 2.00Dc×100

IOP (OD/OS, mmHg)

16/17

15/15

13/16

Eye Position

Normotopia

Esotropia

Esotropia

Nystagmus

+

+

+

Cornea

Microcornea; limbal scleralization

Microcornea; limbal scleralization

Microcornea; limbal scleralization

Pupil

Shape

Irregular

Oval

Irregular

Displacement

Superiorly and temporally

Superiorly and nasally

Superiorly and nasally

Persistent Membrane

+

+

-

React to Light

Dully

Dully

Dully

Dilated

Poorly

Poorly

Poorly

Anterior Chamber Angle

Abnormal tissue membrane

Abnormal tissue membrane

Anterior insertion of iris roots

Iris

Smooth surface

Smooth surface

Sparse texture (temporal)

Lens

Opacity

Posterior capsule

Posterior capsule (OS)

Posterior capsule and cortex

Displacement

Temporally

-

-

Posterior Segments

Fovea

Dysplasia grade1(OD) grade4(OS)

Dysplasia grade3 (OU)

Dysplasia grade3 (OU)

Else

-

-

Cupping of the optic-nerve head (OS) and vitreous opacity (OU)

  1. * BCVA, best-corrected visual acuity; IOP, intraocular pressure