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. 2020 Jan 22;8(3):e1123. doi: 10.1002/mgg3.1123

Table 3.

Clinical data of all participated inherited retinal dystrophy patients in the study

Family Affected members Age First symptom BCVA ffERG Fundus examination Slit‐lamp biomicroscopy OCT Keratoconus

Hearing status

(audiometry)

 Inherited retinopathy phenotype
At exam Onset OD OS Scotopic response Photopic response OD OS OD OS
1A IV‐7 49 10 Low VA CF at 1.25 m 0.05 Severely reduced Severely reduced Typical RP Typical RP No cataract Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME Topographic keratoconus in both eyes Normal RP
  IV‐8 37 10 Low VA HM HM Severely reduced Severely reduced Typical RP Typical RP

No cataract

Horizontal nystagmus

 Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal RP
  V‐6 11 9 Low VA 0.1 0.1 Slightly reduced Normal Atypical RP Atypical RP No cataract Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal RP
  V‐7 12 6 Low VA 0.1 0.1 Slightly reduced Normal Atypical RP Atypical RP No cataract Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal RP
1B IV‐16 48 5 Nyctalopia HM CF closely Severely reduced Severely reduced Typical RP Typical RP PSCC in both eyes Blurred OCT due to cataract Blurred OCT due to cataract No keratoconus Bilateral moderate‐to‐severe hearing loss USH III
  IV‐17a 54 7 Nyctalopia No LP 0.4 Severely reduced Severely reduced Typical RP Typical RP Had cataract surgery in the left eye Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME

OD: cannot comment due to trauma

OS: no keratoconus

 Bilateral moderate‐to‐severe hearing loss USH III
  IV‐18 44 6 Nyctalopia CF at 1 m CF at 1.5 m Severely reduced Severely reduced Typical RP Typical RP Posterior polar cataract with nuclear sclerosis Mild central atrophic maculopathy with no CME Mild central atrophic maculopathy with no CME No keratoconus Bilateral mild‐to‐moderate hearing loss USH III
  IV‐19 48 7 Nyctalopia CF at 2 m CF at 2 m Severely reduced Severely reduced Typical RP Typical RP PSCC in both eyes Mild central atrophic maculopathy with no CME Poor quality due to cataract Keratometry not available Not available USH III
2 II‐3 41 36 Nyctalopia 0.3 CF at 2 m Severely reduced Severely reduced Typical RP Typical RP PSCC in both eyes Mild central atrophic maculopathy with no CME

Mild central atrophic maculopathy

CME with epiretinal membrane

 No keratoconus Bilateral mild hearing loss USH III
3 IV‐4 NA 11 Low VA CF at 1 m 0.1

OD: severely reduced

OS: moderately reduced

 Severely reduced Atypical RP Atypical RP Congenital cataract in the left eye Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal CRD
4 IV‐4 19 8 Low VA CF at 2 m CF at 2 m Slightly reduced Moderately reduced Atypical RP Atypical RP Had cataract surgery Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal CRD
  IV‐6 24 8 Low VA CF at 2 m CF at 2 m Moderately reduced Severely reduced Atypical RP Atypical RP No cataract Central atrophic maculopathy with no CME Central atrophic maculopathy with no CME No keratoconus Normal CRD

Typical RP denotes the presence of the classical triad (attenuated arterioles, disc pallor, and bone spicules) in fundus photography. Atypical RP means that a part of the triad is missing.

Abbreviations: BCVA, best‐corrected visual acuity; CF, counting fingers; CME, cystoid macular edema; CRD, cone‐rod dystrophy; ffERG, full‐field electroretinography; HM, hand motion; LP, light perception; NA, not available; OCT, optical coherence tomography; OD, right rye; OS, left eye; PSCC, posterior subcapsular cataract; RP, retinitis pigmentosa; USH III, Usher syndrome III.

a

This patient had cataract surgery in the left eye, and his right eye was lost due to trauma.