Table 2.

Genotype–phenotype characteristics of patients with positive genetic testing.

No. of patients	Genotype	Protein	ACMG variant classification	(+) Retinal tear	(+) Peripheral retinoschisis	(+) Retinal detachment
2	c.305G > A	p.Q102R	Pathogenic	1 patient (2 eyes)	1 patient (2 eyes)	1 patient (2 eyes)
1	c.329G > A	p.C110Y	Pathogenic	0	1 patient (1 eye)	0
4 (2 families)	c.325G > A	p.G109R	Pathogenic	0	0	0
3 (2 families)	c.590G > A	p.R197H	Pathogenic	2 patients (3 eyes)	2 patients (3 eyes)	2 patients (3 eyes)
2	c.579dup	p.I194H	Pathogenic	0	1 patient (2 eyes)	1 patient (2 eyes)
5 (3 families)	c.608C > T	p.P203L	Pathogenic	0	3 patients (5 eyes)	0
1	c.626G > A	p.R209H	Pathogenic	0	0	0
1	c.574C > T	p.P192S	Pathogenic	0	0	1 patient (1 eye)
1	Large hemizygous deletion encompassing exons 2 and 3	–	Unknown	0	1 patient (1 eye)	1 patient (1 eye)
1	c.(52 + 1_53-1)_(78 + 1_79-1)del	–	Unknown	0	0	0