Table 1

Clinical characteristics in HM1 family

ID	Sex	Age (years)	Status	Refraction (D)		Axial length (mm)		Fundus	Genotype
ID	Sex	Age (years)	Status	Ocular Dexter (OD)	Oculus Sinister (OS)	OD	OS	Fundus	Genotype
I:2	F	80–85	Patient	−14.00	−14.00	29.12	28.09	Retinal atrophy	c.539C>T, Het
II:2	F	60–65	Patient	−15.00	−10.00	29.34	27.61	Bilateral tigroid fundus	c.539C>T, Het
II:4	F	55–60	Patient	−15.00	−15.00	29.94	29.73	Bilateral tigroid fundus, retinal atrophy	c.539C>T, Het
II:6	F	55–60	Normal	Plano	Plano	NA	NA	NA	WT
III:2	F	35–40	Normal	−2.50	−2.50	NA	NA	NA	WT
III:5	F	30–35	Patient	−12.00*	−12.00	27.38	28.08	Bilateral tigroid fundus	c.539C>T, Het
III:7	F	35–40	Patient	−6.00*	−6.00	NA	NA	NA	c.539C>T, Het
III:8	M	35–40	Normal	−1.00	−1.00	NA	NA	NA	WT
III:9	F	30–35	Normal	−0.50	0.00	23.59	23.46	Normal	c.539C>T, Het
III:10	F	30–35	Patient	−5.75	−5.50	24.75	24.77	NA	c.539C>T, Het
III:11	M	25–30	Patient	−8.00	−8.00	26.46	26.19	Normal	c.539C>T, Hemi
III:12	F	25–30	Normal	−2.00	−2.00	NA	NA	NA	WT
III:13	M	15–20	Normal	Plano	Plano	NA	NA	NA	WT
III:14	M	10–15	Normal	−1.50	+2.00	26.02	24.16	Normal	WT
III:15	F	15–20	Normal	Plano	Plano	NA	NA	NA	WT
IV:2	M	5–10	Normal	Plano	Plano	NA	NA	NA	WT
IV:3	F	5–10	Normal	Plano	Plano	NA	NA	NA	WT
IV:4	M	5–10	Patient	−9.00	−9.00	27.48	27.26	Bilateral tigroid fundus, retinal atrophy	c.539C>T, Hemi

*LASIK eye surgery 10 years before.
F, female; Hemi, hemizygote; Het, heterozygote; M, male; NA, not applicable; WT, wild-type.