Table 1. Clinical summary.

Patient (gender) Family number	Age of onset	Age last review	Latest VA, (Snellen)	Fundus features	Age at last electrophysiology, key findings
1.1 (f) GC16236	<65 years	74 years	R 20/200 L 20/80	Extensive areas chorioretinal atrophy anteriorly more than posteriorly, peripheral RPE hypertrophy	Not performed
1.2 (m) GC16236	18 years	46 years	R HM L HM	Extensive chorioretinal atrophy, some preserved anterior retina and well demarcated patches of posterior retina	33 years: rod cone dystrophy of moderate severity with marked involvement at the level of the RPE
2.1 (f) GC11527	45 years	87 years	R HM L PL	Extensive chorioretinal atrophy with well demarcated areas of preserved anterior retina, peripheral RPE hypertrophy	86 years: very severe generalized retinal dysfunction of rods (undetectable) and cones
2.2 (m) GC11527	35 years	71 years	R HM L 20/160	Extensive chorioretinal atrophy sharply demarcated from preserved anterior retina, RPE hypertrophy	Not performed
2.3 (m) GC11527	40 years	48 years	R 20/40 L 20/30	Foveal vitelliform lesions	Not performed

VA, visual acuity; RPE, retinal pigment epithelium; HM, hand movements vision; PL, perception of light