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Table 1 Patient demographics for 5 KLHL7-mediated Retinitis Pigmentosa Patients

From: Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa

ID - Gender

Age (Age at diagnosis)

Ethnicity

Variant

Retinal Pigment Migration

CME

BCVA at first visit

BCVA at most recent visit

P1 - M

68 (45)

Scottish

c.472 T > C: p.(Cys158Arg)* heterozygous

Yes, up to arcades

OS

20/25, 20/30

20/63, 20/32

P2 - F

49 (21)

Irish

c.458C > T: p.(Ala153Val) heterozygous

Yes, up to arcades

None

20/150, 20/150

20/CF @ 2 ft., 20/CF @ 4 ft

P3 - F

39 (32)

Korean

c.433A > G: p.(Asn145Asp) heterogyzous

Yes, up to arcades

OU

20/20, 20/25

20/30, 20/30

P4 - F

59 (32)

Caucasian (unspecified)

c.472 T > C: p.(Cys158Arg)* heterozygous [SNRNP200 c.983-8G > A heterozygous]

Yes, up to arcades

OS

20/50, 20/40

 

P5 - F

39 (33)

Irish

c.433A > T: p.(Asn145Tyr)* heterozygous

Yes, up to arcades

OU

20/30, 20/30

20/40, 20/40

  1. CME Cystoid macular edema, BCVA Best corrected visual acuity, OD Right eye, OS Left eye, OU Both eyes,
  2. *: Novel