Table 2.

Clinical and molecular data of the four patients with FZD5 variants.

	Reference number	Sex	Age (years)	Familial history	FZD5 variant	Coloboma features		Associated features
						Right eye	Left eye
Patient 1	ADN120143	F	10	None	c.820del p.(Leu274Cysfs*73)	Iris, choroidal and optic disc coloboma	Choroidal and optic disc	None
Patient 2	ADN140259	F	43	None	c.1081_1082insGAA p.(His361delinsArgAsn)	Optic disc	Iris and optic disc	Right cortical cataract Bilateral congenital deafness Neurocognitive difficulties
Patient 3	SG170145	F	26	Daughter of patient 4	c.1181_1246del p.(Asn394_Gly415del)	Bilateral iris and chorioretinal coloboma affecting the macula and the optic nerve		Right posterior cataract Congenital nystagmus and high myopia
Patient 4	ADN190002	F	52	Mother of patient 3	c.1181_1246del p.(Asn394_Gly415del)	Bilateral optic disc		None