Table 1

Phenotype findings in affected family members

Family membersAge
VA OD (logMAR)VA OS (logMAR)VFFundus OD and OSOCTAFFull-field ERG
IV-31200ConstBone spicules
Peripheral RPE atrophy
Peripheral photoreceptor degeneration, asymmetric remnant island around fovea extending nasallyParafoveal asymmetric ring of hyper-AFmild reduction in DA and LA, LF-PERG
IV-2180.100naBone spiculesnanamild reduction in DA and LA
III-124000NormalUnremarkableMacular ONL thinningLocalised region of hyper-AF temporal macula in OS onlyNormal
III-5430.10.1Nasal const
+mid peripheral ring scotoma
Bone spiculesnanamild reduction in DA and LA
III-239−0.1−0.1ConstBone spicules
Peripheral RPE atrophy
Macular ONL thinningParafoveal ring of hyper-AFOD slight reduction in DA and LA compared with OS normal.
OU slight reduction LF-PERG
Bone spicules
Peripheral RPE atrophy
Perifoveal/parafoveal photoreceptor degeneration and CMOParafoveal ring of hyper-AFna
II-7720.10.1Multiple central scotomataBone spicules
Peripheral RPE atrophy
Parafoveal photoreceptor degenerationExtensive parafoveal and temporal macula hypo-AFna
  • 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.