Table 3 of
Yzer, Mol Vis 2012; 18:412-425. Table 3 of
Yzer, Mol Vis 2012; 18:412-425.
Table 3. Retinal findings in Leber congenital amaurosis patients with CEP290 mutations.
| Patient (y) | Recent funduscopy |
|---|---|
| *1$ (19) | optic disc: pink, scleral rim, pseudopapillary edema; vessels: mildly attenuated; posterior pole: preserved RPE, mild wrinkling ILM, recognizable fovea without reflexes; (mid-) periphery: dot-like atrophy at RPE level, subtle RPE changes, bone-spicules |
| *2$ (18) | optic disc: pink; vessels: moderately attenuated; posterior pole: preserved RPE, recognizable fovea, no reflexes; (mid-) periphery: dot-like atrophy at RPE level, some bone-spicules; far periphery: more pronounced RPE atrophy |
| *3$ (13) | optic disc: pink, scleral rim; vessels: mildly attenuated; posterior pole: relatively hyperpigmented fovea, no reflexes, mild wrinkling ILM; (mid-) periphery: dot-like atrophy at RPE level, subtle RPE changes, sporadic bone-spicules |
| *4 (8) | optic disc: pink; vessels: mildly attenuated; posterior pole: relatively spared RPE, mild epiretinal membrane, recognizable fovea, no reflexes; (mid-) periphery: abnormal reflex along vascular arcade, subtle RPE changes, granular aspect |
| *5 (5) | optic disc: moderately pale; vessels: moderately attenuated; posterior pole: preserved RPE, recognizable fovea, no reflexes; (mid-) periphery: preserved RPE; far periphery: relatively hypopigmented, granular aspect |
| *6 (43) | NA |
| 7 (39) | optic disc: pale, pseudo-papillary edema, vascular sheeting; vessels: moderately attenuated; posterior pole: preserved RPE, subtle RPE changes RE, exudative detachment LE; (mid-) periphery: pronounced RPE atrophy, bone-spicules |
| 8§ (15) | optic disc: pink; vessels: very attenuated; posterior pole: normal; periphery: granular aspect |
| 9§ (16) | optic disc: pink; vessels: attenuated; posterior pole: normal; periphery: normal |
| 10 (25) | optic disc: pink; vessels: attenuated; posterior pole: recognizable fovea, diffuse hypopigmentation; (mid-) periphery: dot-like atrophy at RPE level; far periphery: pigment mottling, bone-spicules |
| 11 (34) | optic disc: pink, scleral rim; vessels: mildly attenuated; posterior pole: preserved RPE macular region, recognizable fovea, no reflexes, mild epiretinal membrane RE; (mid-) periphery: (lobular) atrophy RPE, some bone-spicules |
| *12 (9) | optic disc: pink; vessels: mildly attenuated; posterior pole: preserved RPE, relatively dark, recognizable fovea, no reflexes, wrinkling ILM (BE), yellow deposits temporal to macula RE; (mid-) periphery: relatively normal |
| 13 (18) | optic disc: pink, scleral rim; vessels: tortuous and dilated; posterior pole: relatively normal, no reflexes; (mid-) periphery: RPE atrophy, exudative retinal detachment inferior quadrants with Coat's-like vasculopathy |
| *14 (45) | optic disc: moderate pallor; vessels: severely attenuated; posterior pole: preserved RPE, fovea recognizable, no reflexes; (mid-) periphery: (lobular) RPE atrophy, bone-spicules |
| 15 (38) | optic disc: mild pallor; vessels: moderately attenuated; posterior pole: preserved RPE, subtle RPE changes, ERM; (mid-) periphery: chorioretinal coloboma RE, (lobular) atrophy RPE, bone-spicules, paving-stone degeneration 360 degrees |
| 16¶ (4) | optic disc: pink, scleral rim; vessels: mildly attenuated; posterior pole: preserved RPE, macula: relatively dark aspect; (mid-) periphery: tapetal reflex, subtle hypo-and hyperpigmented areas |
| 17¶ (2) | optic disc: pink; vessels: mildly attenuated; posterior pole: preserved RPE; (mid-) periphery: tapetal reflex, granular aspect |
| 18 (17) | optic disc: pink, scleral rim; vessels: moderately attenuated; posterior pole: preserved RPE, subtle RPE changes macula, present foveolar reflex RE, absent LE; (mid-) periphery: RPE atrophy, bone-spicules |