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