Phenotype findings in affected family members
| Family members | Age (y) | VA OD (logMAR) | VA OS (logMAR) | VF | Fundus OD and OS | OCT | AF | Full-field ERG |
| IV-3 | 12 | 0 | 0 | Const | Bone spicules Peripheral RPE atrophy | Peripheral photoreceptor degeneration, asymmetric remnant island around fovea extending nasally | Parafoveal asymmetric ring of hyper-AF | mild reduction in DA and LA, LF-PERG |
| IV-2 | 18 | 0.10 | 0 | na | Bone spicules | na | na | mild reduction in DA and LA |
| III-12 | 40 | 0 | 0 | Normal | Unremarkable | Macular ONL thinning | Localised region of hyper-AF temporal macula in OS only | Normal |
| III-5 | 43 | 0.1 | 0.1 | Nasal const +mid peripheral ring scotoma | Bone spicules | na | na | mild reduction in DA and LA |
| III-2 | 39 | −0.1 | −0.1 | Const | Bone spicules Peripheral RPE atrophy | Macular ONL thinning | Parafoveal ring of hyper-AF | OD slight reduction in DA and LA compared with OS normal. OU slight reduction LF-PERG |
| III-1 | 29 | 0.20 | 0.20 | Const <10 | Bone spicules Peripheral RPE atrophy | Perifoveal/parafoveal photoreceptor degeneration and CMO | Parafoveal ring of hyper-AF | na |
| II-7 | 72 | 0.1 | 0.1 | Multiple central scotomata | Bone spicules Peripheral RPE atrophy | Parafoveal photoreceptor degeneration | Extensive parafoveal and temporal macula hypo-AF | na |
AF, autofluorescence; CMO, cystoid macular oedema; Const, Constricted; DA, dark-adapted; ERG, electroretinogram; LA, light-adapted; LF-PERG, large field pattern ERG; na, not available; OCT, optical coherence tomography; OD, oculus dextra; ONL, outer nuclear layer; OS, oculus sinistra; OU, oculus uterque; RPE, retinal pigment epithelium; VA, visual acuity; VF, visual field; y, years.