Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Table 1

Demographic, clinical features, and genetic variants of the PCARE-related Mexican cohort.

Subject #

Family

Sex

PCARE variants

Age at onset (years)

Age at exam (years)

First symptom

BCVA; (LogMAR)

Clinical diagnosis

Chromatic perimetry/FST

ffERG

OD

OS

P

M

S

1

I

F

p.His184Arg/p.His184Arg

36

42

Visual loss

LP

LP

CRD

n/a

n/a

2

II

F

p.His184Arg/p.Arg984

23

39

Nyctalopia

1.3

LP

CRD

FST; P: r > S: r

u

u

u

3

II

M

p.His184Arg/p.Arg984

25

30

Nyctalopia

0.09

0.09

CRD

FST; P: r > S: r

u

u

u

4

III

F

p.Arg984/p.Arg984

n/a

23

Visual loss

0.50

0.50

CRD

n/a

n/a

5

IV

M

p.Asn316Metfs7/p.Asn316Metfs7

8

29

Vision loss

n/a

CRD

n/a

n/a

6

V

M

p.Arg613/p.His184Arg

5

49

Nyctalopia

LP

LP

CRD

FST; P: r > S: r

u

u

u

7

V

F

p.Arg613/p.His184Arg

6

16

Nyctalopia

0.17

0.17

CRD

CP; P: r > S: r

u

r

r

8

V

M

p.Arg613/p.His184Arg

6

21

Nyctalopia

0.09

0.09

CRD

CP; P: r > S: r

u

u

u

9

VI

F

p.Arg613/p.Arg613

17

23

Nyctalopia

1.17

1.30

CRD

CP; P: r > S: r

u

u

u

10

VII

M

p.Arg984/p.Arg984

12

51

Photophobia

LP

LP

CRD

n/a

u

u

u

11

VIII

F

p.Arg613/p.Tyr1016

12

45

Photophobia

0.54

0.69

CRD

CP; P: r > S: r

u

u

u

12

IX

M

p.Arg613/p.Arg613

8

39

Photopsias

0.60

LP

CRD

FST; P: r > S: r

u

u

u

13

X

M

p.Arg984/p.Ser1105

30

54

Nyctalopia

1.47

LP

CRD

FST; P: r > S: r

u

u

u

14

XI

M

p.Arg984/p.Arg984

36

43

Nyctalopia

LP

LP

CRD

n/a

n/a

BCVA, best corrected visual acuity; CRD, cone-rod dystrophy; FST, full-field stimulus threshold; LP, light perception; M, mesopic; n/a, not available; OD, oculus dexter; OS, oculus sinister; P, photopic; r, reduced; S, scotopic; u, undetectable; >, more affected than.