Table 2.
Summary of ophthalmological features in individuals carrying heterozygous NR2F1 variants
| Subject | OA (AAD) | ONH | CVI |
BCVA
RE/LEa |
Squint | Nystagmus | Refractive Error | Visual Electrophysiology | OCT |
|---|---|---|---|---|---|---|---|---|---|
| (Bilateral) | (Bilateral) | ||||||||
| NR2F1_1 | Yes (8 years) | Yes | ND | 0.4/0.5 | Yes | No | H (Mild) | ND | ON: RNFL thinning; Macula: ND |
| NR2F1_2 | Yes | Yes | Yes | 1.3/1.3 | No | Yes | M (Mild); A | ND | ON: mild RNFL thinning; Macula: GCL thinning |
| NR2F1_3 | Yes (1 year) | No | Yes | 0.1/0.7 | Yes | Yes | H (Mild) | ON dysfunction | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_4 | Yes | No | ND | 0.5/0.4 | Yes | No | H (Moderate/high); A | ND | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_5 | Yes (3 months) | ND | No | 1.43/1.7 | No | No | H (Mild) | ND | ND |
| NR2F1_6 | Yes (33 months) | No | No | 0.7/0.7 | Yes | Yes | H (Moderate) | ND | ND |
| NR2F1_7 | Yes (14 years) | ND | No | 0/0.1 | Yes | No | E | ND | ND |
| NR2F1_8 | Yes (9 months) | ND | Yes | 0.98/0.98 | Yes | No | H (Moderate); A | ND | ND |
| NR2F1_9 | No | No | Yes | 0.62/0.60 | Yes | No | H (Moderate); A | ON dysfunction | ND |
| NR2F1_10 | Yes | No | Yes | 0.7/0.7 | No | Yes | E | Inconclusive due to poor cooperation | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_11 | No | ND | No | NR | Yes | No | H (High); A | ND | ND |
| NR2F1_12 | Yes | Nob | Yes | ND | Yes | No | H (Mild); A | ON dysfunction | ND |
| NR2F1_13 | Yes (7 years) | Yes | No | 0.6/0.9 | Yes | Yes | H (Moderate/high); A | ON dysfunction | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_14 | No | Yes | Yes | 0.43/0.43 | No | Yes | M (Mild) | No definite evidence of ON/RGC dysfunction | ON: normal; Macula: Mild GCL thinning |
| NR2F1_15 | No | Nob | Yes | 0.3/0.18 | Yes | No | H (grade unknown) | ON/RGC dysfunction | ON: normal; Macula: Mild GCL thinning |
| NR2F1_16 | Yes | Yes | Yes | 1.48/1.48 | Yes | Yes | M (Mild) | ON/post-retinal dysfunction | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_17 | Yes | No | Yes | 0.78/1.0c | Yes | Yes | H (High) | ON/RGC dysfunction | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_18 | Yes | Yes | No | 0.22/0.22 | Yes | No | M (Mild) | ON/RGC dysfunction | ON: RNFL thinning; Macula: ND |
| NR2F1_19 | Yes | Yes | No | 0.3/0.48 | Yes | Yes | M (Moderate/high) | ON dysfunction with possible additional right retro-chiasmal dysfunction | ON: RNFL thinning; Macula: RNFL, GCL thinning |
| NR2F1_20 | No | No | Yes | 0.4/0.4 | Yes | No | H (grade unknown) | Evidence of macular and visual pathway dysfunction | ND |
| NR2F1_21 | Yes (2 years) | Yes | No | 1.0/1.0 | No | No | H (Moderate); A | ND | Macula: Mild RNFL, GCL thinning |
| NR2F1_22 | Yes (6 years) | ND | No | 1.0/0.88 | Yes | Yes | H (Mild); A | ND | ON: RNFL thinning; Macula: ND |
AAD, age at diagnosis; A, astigmatism; BCVA, best-corrected visual acuity; CVI, cerebral visual impairment; E, emmetropia; GCL, ganglion cell layer; H, hyperopia; LE, left eye; M, myopia; ND, no data; NR, not recordable. Fixation was central, steady and maintained; OA, optic atrophy; OCT, optical coherence tomography; ON, ON; ONH, ON hypoplasia; RE, right eye; RGC, retinal ganglion cells; RNFL, retinal nerve fibre layer.
a
BCVA at the last clinic visit (LogMAR).
b
Small ON head.
c
Left eye is densely amblyopic with previous unsuccessful treatment.