Table 1

Clinical characteristics in HM1 family

IDSexAge (years)StatusRefraction (D)Axial length (mm)FundusGenotype
Ocular Dexter (OD)Oculus Sinister (OS)ODOS
I:2F80–85Patient−14.00−14.0029.1228.09Retinal atrophyc.539C>T, Het
II:2F60–65Patient−15.00−10.0029.3427.61Bilateral tigroid fundusc.539C>T, Het
II:4F55–60Patient−15.00−15.0029.9429.73Bilateral tigroid fundus, retinal atrophyc.539C>T, Het
II:6F55–60NormalPlanoPlanoNANANAWT
III:2F35–40Normal−2.50−2.50NANANAWT
III:5F30–35Patient−12.00*−12.0027.3828.08Bilateral tigroid fundusc.539C>T, Het
III:7F35–40Patient−6.00*−6.00NANANAc.539C>T, Het
III:8M35–40Normal−1.00−1.00NANANAWT
III:9F30–35Normal−0.500.0023.5923.46Normalc.539C>T, Het
III:10F30–35Patient−5.75−5.5024.7524.77NAc.539C>T, Het
III:11M25–30Patient−8.00−8.0026.4626.19Normalc.539C>T, Hemi
III:12F25–30Normal−2.00−2.00NANANAWT
III:13M15–20NormalPlanoPlanoNANANAWT
III:14M10–15Normal−1.50+2.0026.0224.16NormalWT
III:15F15–20NormalPlanoPlanoNANANAWT
IV:2M5–10NormalPlanoPlanoNANANAWT
IV:3F5–10NormalPlanoPlanoNANANAWT
IV:4M5–10Patient−9.00−9.0027.4827.26Bilateral tigroid fundus, retinal atrophyc.539C>T, Hemi
  • *LASIK eye surgery 10 years before.

  • F, female; Hemi, hemizygote; Het, heterozygote; M, male; NA, not applicable; WT, wild-type.