Table 1.
Clinical Features
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | |
|---|---|---|---|---|---|---|---|---|
| Sex | F | F | F | M | F | M | M | F |
| Age at onset (yrs) | 5 | 5.5 | 3 | 7 | 4 | 6 | 6 | 6 |
| Initial clinical findings at first evaluation | Macular atrophy, retinal degeneration on OCT | Nystagmus, reduced vision, poor night vision | Foveal thinning, optic disc pallor, bull's-eye maculopathy, poor color vision/night vision | Bilateral macular changes, optic disc pallor | Visual impairment | Noncorrectable vision, poor color vision | Unexplained poor vision | Esotropia, left amblyopia |
| VA; R, L (logMAR) | 1.78, 1.78 | 0.60, 0.48 | 0.35, 0.80 | 0.60, 0.75 | 0.80, 0.80 | 0.70, 0.50 | 0.26, 0.20 | 0.18, 0.48 |
| Neurologic/behavioral signs | Speech delay, clumsiness, seizures |
None | Behavioral and cognitive decline (ASD?); clumsiness | Emotional difficulties, cognitive decline | None | None | Behavioral decline | Speech and language delay |
| Rapid visual decline within | 6 mos | 1 mo | 12–18 mos | 1 yr | 12–18 mos | 1 yr | 1 yr | 1 yr |
| Diagnosis on referral to Moorfields Eye Hospital | Severe retinal dystrophy | Severe retinal dystrophy | Molecularly confirmed Stargardt disease (ABCA4) | Severe retinal dystrophy | Unexplained vision loss | Unexplained vision loss | Unexplained vision loss | Unexplained vision loss |
| Age at diagnosis (yrs) | 10 | 7 | 8 | 9 | 9 | 7 | 8 | 8 |
| Clinical features at time of diagnosis | Profound macular atrophy, optic disc pallor, retinal vascular attenuation | Rotary nystagmus, pale optic discs, bull's-eye maculopathy, bilateral ERM, retinal vascular attenuation | Profound loss of inner and outer retina, bilateral ERM, bull's-eye maculopathy |
Bilateral macular atrophy | Pale optic discs, attenuated vessels, bilateral macular atrophy | Loss of central retinal structure, bilateral ERM, poor color/night vision, pale optic discs | Bilateral ERM, outer retinal loss, pale optic discs | Bilateral macular atrophy, foveal sheen |
| VA; R, L (logMAR) | PL, PL | 1.35, 1.60 | 1.20, 1.30 | 1.0, 1.10 | 1.30, 1.23 | 1.20, 1.20 | 0.50, 0.30 | 1.30, 1.30 |
| Eccentric fixation/overlooking | ✔ | ✔ | ✔ | NR | NR | ✔ | ✔ | ✔ |
| Neurologic/behavioral signs | Speech delay, clumsiness | None | Behavioral and cognitive decline, clumsiness | Cognitive decline | None | Clumsiness, memory loss, behavioral decline |
Clumsiness, behavioral decline | Speech and language delay, poor concentration |
ASD = autistic spectrum disorder; ERM = epiretinal membrane; L = left eye; logMAR = logarithm of the minimum angle of resolution; NR = not recorded; PL = perception of light; R = right eye.