Molecular Vision: Panagiotou, Mol Vis 2022; 28:57-69. Table 1

Table 1. Clinical information of patients with poor vision due to biallelic SIX6 mutations.

A
	Family ID	Ethnicity	Function	Globe	Cornea	Iris	Lens	Fundus	Mutation	Reference
	MEP68	Pakistani	CF	-	Microcornea	Coloboma	Cataract	Normal	c.547G>C	This paper
	n=3		nystagmus		Opacity/Sclerocornea				p.(Asp183His)
					Vascularization
	F1332	Turkish	LP	Microphthalmia	Sclerocornea totalis	-	Cataract	[Normal ultrasound]	c.-227_572+235del1034	This paper
	n=1				Cornea plana
					Vascularization
B
	n=2	Syrian	No LP	Microphthalmia	Opacity	-	nd	Retinal dystrophy	c.532_536del;	[4]
				Buphthalmos				Optic disc dysplasia [Retinal detachment	p.(Asn178fs)
								& Optic disc cupping ultrasound]
	n=2	Syrian	nd	Anophthalmia Microphthalmia	Sclerocornea	-	Cataract	nd	c.532_536del;	[5]
									p.(Asn178fs)
	n=3	Turkish	Low vision, nystagmus	-	nd	Coloboma	-	Pigmented macular atrophy	c.110T>C;	[6]
								Optic disc coloboma	p.(Leu37Pro)
								Chorioretinal coloboma Peripapillary chorioretinal changes
	n=1	nd	Colour blindness, strabismus	nd	nd	nd	Cataract	Severe coloboma	c.86G>C;	[7]
									p.(Arg29Pro)

Details of patients reported in this study are presented (A) as well as patients previously documented to have biallelic SIX6 mutations (B). n=number of affected patients studied in each report, CF=count fingers, LP=light perception, -=no evidence of abnormality, nd=not documented. The references that report the mutations/affected cases are indicated. Note sclerocornea totalis makes visual fundus examination difficult. Also the use of B-scan ultrasonography for fundus inspection will detect only gross structural abnormalities in the retina and optic nerve rather than more subtle retinal atrophic changes.