Table 1 of Piñeiro-Gallego, Mol Vis 2011; 17:1607-1617. Table 1 of Piñeiro-Gallego, Mol Vis 2011; 17:1607-1617.
Table 1. Clinical description of the homozygous patients from Spanish family and Danish family.
Family |
Individual |
Age of onset |
VA (Snellen)/ refraction |
Retina |
Fluorescein angiography |
ERG |
EOG Arden ratio |
|---|---|---|---|---|---|---|---|
| S | Female sibling | 4 years | 0.8–0.8 (Pigassou) | OD: pseudohypopion macular lesion. OS: retractile-atrophic lesion. Multifocal subretinal deposits of vitelliform material and diffuse alterations of RPE in posterior pole and peripheral retina in both eyes. | OD: macular hypo-fluorescent lesions due to deposits of vitelliform material and hyper-fluorescent lesions due to atrophic lesions of the RPE. OS: hyper-fluorescent lesion due to its retractile-atrophic stage. Hyper-fluorescent lesions in the periphery of both eyes. | Normal | Reduced OD: 1.00 OS: 1.12 |
| S | Male sibling | 9 years | 0.6–0.6 (Snellen) | Perimacular scars. Multifocal vitelliform discs in peripheral retina. | Hyper-fluorescent perimacular lesions. Multifocal peripheral hypofluorescent disc-like lesions. | Reduced (a and b waves amplitudes) | Reduced OD:1.03 OS:1.12 |
| DII | III8 | 6 years | 0.7–0.7 (Snellen) | Slight vitelliform macular degeneration | Not examined | Not examined | Not possible |
| DII | III7 | 9 years | 0.5–0.4 (Snellen) | Multifocal vitelliform retinopathy. | Described in Schatz et al. [12] | Reduced | Not possible |