Table 1.
Family no. | Patient no. | Inheritance | Sex | Age (in the database) | Age (at latest examination) | Onset | Chief complaint | LogMAR BCVA | Spherical equivalent | Fundus/AF findings | OCT findings | Visual field | Full-field ERG | Phenotype | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RE | LE | RE | LE | |||||||||||||
1 | 1-II:2 | Possible XL/AD | M | 57 | 54 | 50 | Photophobia | 0.4 | −0.08 | −1.00 (post LASIK) | −1.00 (post LASIK) | Central retinal atrophy/central hypo AF surrounded by hyper AF ring | Outer retinal atrophy at the central retina | Central scotoma (GP) | Severely decreased cone reponses and mildly decreased rod responses | Cone rod dystrophy |
2 | 2-II:3 | Sporadic | M | 74 | 72 | NA | Poor visual acuity | 1.7 | 1.52 | + 0.50 (cataract) | −0.50 (cataract) | Central retinal atrophy/ attenuated blood vessels | Outer retinal atrophy at the central retina | Central scotoma and concentric visual field defect (GP) | Underctable cone and rod responses | Cone rod dystrophy |
3 | 3-II:1 | Sporadic | M | 50 | 50 | 15 | Reduced visual acuity | 0.7 | 0.82 | −7.00 | −6.50 | Tigroid/central retinal atrophy/central hypo AF surrounded by hyper AF ring | Outer retinal atrophy at the central retina | Central scotoma (GP) | Severely decreased cone responses and mildly decreased rod responses | Cone rod dystrophy |
4 | 4-IV:1 | Definite XL | M | 11 | 11 | 4 | Reduced visual acuity | 0.15 | 0.1 | −4.00 | −4.50 | Tigroid/paracentral hyper AF/hyper AF ring | Outer retinal atrophy at the paramacula | No particular scotoma (GP) | Moderately decreased cone and rod responses | Cone rod dystrophy |
5 | 5-III:2 | Possible XL/incomplete AD | M | 50 | 47 | 30 | Color vision abnormality | 0.22 | 0.22 | −4.00 | −4.00 | Tigroid/ born spicule pigmentosa, central and paracentral retinal atrophy/hyper AF ring | Outer retinal atrophy at the central retina | Central scotoma (GP) | Severely decreased cone and mildly decreased rod responses | Cone rod dystrophy |
5 | 5-III:4 | Possible XL/incomplete AD | M | 47 | 44 | 15 | Photophobia | 0.3 | 1.1 | −8.00 | −7.00 | Tigroid/ centeral and paracentral retinal atrophy/hyper AF ring | Outer retinal atrophy at the central retina | Central scotoma (GP) | Severely decreased cone and rod responses | Cone rod dystrophy |
6 | 6-III:4 | Possible XL/AD | M | 45 | 41 | 8 | Reduced visual acuity | 0.82 | 0.7 | −7.00 | −6.00 | Tigroid/ paracentral retinal atrophy/ born spicule pigmentation/attenuated blood vessels | Outer retinal atrophy at the central retina、thinning choroid | Concentric visual field defect (GP) | Undetectable cone and rod responeses | Retinitis pigmentosa |
7 | 7-II:1 | Sporadic | M | 52 | 50 | NA | Poor visual acuity | 0.52 | 0.52 | + 1.00 | + 1.00 | Tigroid/ paracentral retinal atrophy/born spicule pigmentation/attenuated blood vessels | Outer retinal atrophy at the paracentral retina, thinning choroid | Concentric visual field defect (GP) | NA | Retinitis pigmentosa |
8 | 8-III:2 | Possible XL/AD | F | 50 | 41 | NA | Night blindness | 0.1 | 0.15 | −10 | −13.5 | NA | NA | No particular scotoma (GP) | Moderately decreased cone and rod responses | Retinitis pigmentosa |
9 | 9-II:1 | Probable XL | M | 33 | 32 | 5 | Night blindness | 0.1 | 0 | 0 | + 0.50 | Paracentral retinal atrophy/born spicule pigmentation/ attenuated blood vessels | Outer retinal atrophy at the paracentral retina | Annular scotoma (GP) | Undetectable cone and rod responeses | Retinitis pigmentosa |
10 | 10-III:1 | Probable XL | M | 17 | 17 | 12 | Night blindness | 0.3 | −0.18 | −1.50 | −1.00 | Paracentral retinal atrophy/hyper AF ring | Outer retinal atrophy at the paracentral retina | Partial paracentral scotoma (GP) | Severely decreased rod responses and moderately decreased cone responses | Retinitis pigmentosa |
11 | 11-III:1 | Sporadic | F | 25 | 25 | 9 | NA | 0.15 | 0.15 | −6.50 | −7.00 | NA | Outer retinal atrophy at the paracentral retina、thinning choroid | Partial paracentral scotoma (GP) | Undetectable rod and cone responeses | Retinitis pigmentosa |
12 | 12-III:1 | Definite XL | M | 16 | 14 | 0 | Night blindness | 0.4 | 0.3 | 0 | −1.00 | Paracentral retinal atrophy | Outer retinal atrophy at the paracentral retina、thinning choroid | Annular scotoma (GP) | NA | Retinitis pigmentosa |
13 | 13-III:3 | Possible XL/AD | M | 36 | 35 | 4 | Peripheral visual field loss | 0.22 | 0.1 | −1.00 | −1.00 | Paracentral retinal atrophy/born spicule pigmentation/attenuated blood vessels | Outer retinal atrophy at the paracentral retina | Annular scotoma (GP) | Undetectable rod and cone responeses | Retinitis pigmentosa |
AD autosomal dominant, LogMAR BCVA best-corrected visual acuity, CS central scotoma, F female, FS foveal sparing, LE left eye, M male, RE right eye, NA not available, OCT spectral-domain optical coherence tomography, AF autofluorescence, GP Goldmann Perimetry, HFA Humphrey visual field analyzer, LASIK laser in situ keratomileusis, ERG electroretinogram
Age was defined the age when the latest examination was performed. The age of onset was defined as either the age at which visual loss was first noted by the patient or, in the “asymptomatic” patients, when an abnormal retinal finding was first detected