Table 1.
Summary of clinical phenotype of probands 1–5.
| Proband 1 | Proband 2 | Proband 3 | Proband 4 | Proband 5 | |
|---|---|---|---|---|---|
| Site of study | SickKids, Toronto | Leeds, England | London, England | Manchester, England | Wroclaw, Poland |
| Sequencing type | GS | ES | GS | GS | ES |
| Gender (age, years) | F (19) | F (33) | M (47) | M (32) | F (24) |
| Ethnicity | Barbados/Black and Greek | South Asian | South Asian | South Asian | Polish |
| Ocular diagnosis | ARRP | ARRP | ARRP | ARRP | ARRP |
| Onset of symptoms | Birth, photophobia 9 years, nyctalopia | 25 years, nyctalopia | 44 years, VF loss | 18 years, VF loss | 21 years |
| VA (LogMar) | 0.4, 0.5 (13 years) | 0.4, 0.4 (31 years) | 0, 0.2 (13 years) | NA | 0.1, 0 (23 years) |
| OD, OS | 0.6, 0.5 (19 years) | ||||
| Color vision | Absent | NA | NA | NA | Normal |
| ERG | Nonrecordable (19 years) | Reduced responsesa | Reduced responsesa | Reduced responsesa |
Reduced responses (23 years) |
| GVF | <10 degrees | Constricteda | Constricteda | Constricteda | Constricted |
| DYNC2H1 variants | V1: c.12605_12606dup | V3: c.9836C>G | V3: c.9836C>G | V3: c.9836C>G | V4: c.7987A>C |
| p.Asp4203Trpfs*7 | p.Ser3279* | p.Ser3279* | p.Ser3279* | p.Thr2663Pro | |
| V2: c.6632A>T | homozygous | V5: c.12716T>G | |||
| p.Glu2211Val | p.Leu4239Argb |
Normal LogMar VA is 0, legal blindness is 1.ARRP autosomal recessive retinitis pigmentosa, ERG electroretinogram, ES exome sequencing, GS genome sequencing, GVF Goldmann visual field, OD right eye, OS left eye, VA visual acuity, VF visual field.
aReported.
bVariant has been previously reported in Schmidts et al.4 DYNC2H1 variants are reported according to NM_001080463.1.