Table 2.

Phenotypic Features Identified in Patients

Family	Individual	Sex	Age of Onset	Latest BCVA	Ocular Phenotype	Visual Electrophysiology (Age at Testing in Years)	Other Signs and Symptoms (Age at Presentation)
Family_1 GC17489	Father (II:3)	M	Adolescence	RE 6/12	Myopia (mild)	RGC/ON dysfunction (46)	–
				LE 6/9		Minimal worsening in LE over 6 years
	Proband (III:2)	F	Early childhood (3)	RE HM LE HM	Optic atrophy Retinal dystrophy Foveopathy Attenuated retinal vessels	RGC/ON dysfunction (13) Marked worsening over 13 years	Migraine Postural orthostatic tachycardia syndrome (23 years) Fatigue (18–19 years) Anemia Parasthesia in hands and feet Anxiety Vertigo Asthma
	Full-sibling (III:3)	M	Early childhood (3)	RE 3/60 LE 3/60	Optic atrophy Retinal dystrophy* Attenuated retinal vessels Nystagmus	Rod–cone dysfunction	CRX-associated retinal dystrophy Mild learning disability Short-term memory problems Delayed speech Parasthesia in hands and feet Postural tremor Short term memory problem
Family_2 GC17222	Proband	F	Adolescence (18)	RE 3/60 LE 3/60	Optic atrophy Retinal dystrophy Attenuated retinal vessels Myopia	Rod–cone dysfunction Severe macular involvement	–
Family_3 GC19412	Proband	M	Early childhood (3)	RE 1/60 LE 1/60	Optic atrophy Retinal dystrophy Attenuated retinal vessels Myopia (moderate)	ON dysfunction Rod-cone dysfunction	Scoliosis (5 years) Episode of febrile convulsion (3 years) Developmental delay
Family_4 GC19484	Proband	M	Adolescence (15)	RE 6/60 LE 6/48	Optic atrophy Retinal dystrophy Attenuated retinal vessels Early cataracts Myopia (mild)	ND	Hearing loss (2.5 years) Poor coordination, which normalized later (15 years) Coeliac disease (1 year) Speech and language developmental delay
Family_5	Proband	M	Adulthood (59)	RE 6/9.5	Retinal dystrophy	ND	–
				LE 6/7.5

^*Dual retinal dystrophy in affected individual.

HM, hand motions; LE, left eye; ND, no data; ON, optic nerve; RE, right eye.