Table 2 of
Yzer, Mol Vis 2012; 18:412-425. Table 2 of
Yzer, Mol Vis 2012; 18:412-425.
Table 2. Clinical findings in Leber congenital amaurosis patients with CEP290 mutations.
| Visual acuity | Refraction | |||||
|---|---|---|---|---|---|---|
| Patient (y) | Sex | RE | LE | RE | LE | Anterior segment and miscellaneous |
| *1$ (19) | M | LP | LP | +9.25–1.00x60 | +9.00 −1.25x194 | iris translucency, enophthalmos |
| *2$ (18) | F | LP | LP | +9.25–1.75x72 | +9.25–4.50x109 | enophthalmos |
| *3$ (13) | M | NLP | NLP | +8.00–2.75x67 | +8.50–3.50x140 | enophthalmos, normal fundi at age 1y |
| *4 (8) | F | NLP | NLP | NA | NA | abnormal proprioception |
| *5 (5) | F | NLP | NLP | +12.00–1.50x30 | +12.75–4.50x168 | enophthalmos |
| *6 (43) | M | NLP | NLP | NA | NA | ectatic corneas with severe keratoconus, normal fundi at age (0.5y), dropped nuclei (43y), mildly mentally retarded, walked at age 6 y, abnormal proprioception |
| 7 (39) | M | 20/400 | LP | 11.25 | +11.75–1.00x150 | ASC cataract LE, visual acuity 20/200 (8y), immotile spermatozoa |
| 8§ (15) | F | LP | LP | pseudophakia | pseudophakia | pseudophakic, cataract extraction at age 16y |
| 9§ (16) | M | LP | LP | pseudophakia | pseudophakia | pseudophakic, keratoconus BE cataract extraction at age 10y |
| 10 (25) | F | CF | CF | aphakia | aphakia | keratoconus RE |
| 11 (34) | M | 20/200 | CF | +8.25–3.50x165 | +7.50–4.25x35 | visual acuity 20/100 (15y), iridotomy BE, hypofertility |
| *12 (9) | F | NLP | NLP | +9,75–4.50x37 | +9.50–6.25x145 | keratoconus BE, pigment anterior lens capsule, enophthalmos |
| 13 (18) | F | HM | LP | +8.50–2.75x80 | +7.50–3.00x100 | enophthalmos, vitritis |
| *14 (45) | F | LP | LP | +3.75–0.75x26 | +3.50–1.50x48 | PSC cataract BE, asteroid hyalosis RE, sister LCA: LP, keratoconus, dots, mental retardation, epilepsia, psychiatric disorder, normal CT scan |
| 15 (38) | F | LP | LP | −1.25–1.75x178 | −3–1.25x162 | PSC cataract RE, visual acuity 20/400 (23y), abnormal EEG, temporary use of anti-eileptic drugs, 2 sibs with Saethre Chotzen syndrome |
| 16¶ (4) | F | NLP | NLP | +6.25 | +6.00 | keratoconus BE |
| 17¶ (2) | M | NLP | NLP | +2.00 | +3.00 | enophthalmos |
| 18 (17) | M | LP | LP | NA | NA | keratoconus BE |