Table 1. Characteristics of Patients with Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Undergoing Ophthalmic Evaluations1.
| Patient | Age at exam (in months) | Genotype | Neurologic score | Ophthalmic evaluation2 | Ophthalmic score3 |
|---|---|---|---|---|---|
| 1 | 55 | C3670T, G3556C | 5.5±0.6 | Color, FA | 1.0±0.0 |
| 2 | 50 | C3670T, G3556C | 9.0±0.0 | Color, FA | 1.0±0.0 |
| 3 | 83 | G3556C, G3556C | 7.5±0.6 | Color, FA, OCT | 5.0±0.0 |
| 4 | 63 | C3670T, G3556C | 3.0±0.0 | Color, FA, ICGA, OCT | 5.0±0.0 |
| 5 | 55 | C3670T, G4655A | 6.0±0.0 | Color, FA | 3.8±0.5 |
| 6 | 57 | C3670T, G3556C | 5.0±0.0 | Color, FA, OCT | 4.0±0.0 |
| 7 | 59 | G3556C, Other | 7.0±1.0 | Color, FA, ICGA, OCT | 3.0±0.0 |
| 8 | 63 | C3670T, G3556C | 3.0±0.0 | Color, FA, ICGA, OCT | 4.0±0.0 |
| 9 | 65 | G3556C, Other | 6.0±1.2 | Color, FA, ICGA, OCT | 4.0±0.0 |
| 10 | 63 | G3556C, Other | 7.3±0.6 | Color, FA, ICGA, OCT | 2.0±0.0 |
| 11 | 39 | C3670T, G3556C | 9.7±0.6 | Color, FA, ICGA, OCT | 1.0±0.0 |
| 12 | 52 | G3556C, G4655A | 7.0±0.0 | Color, FA, ICGA, OCT | 1.0±0.0 |
| 13 | 56 | G3556C, G3556C | 7.7±0.6 | Color, FA, ICGA, OCT | 1.8±0.0 |
| 14 | 32 | G3556C, Other | 7.5±0.6 | Color, FA, ICGA, OCT | 1.0±0.0 |
| 15 | 53 | C3670T, C3670T | 5.0±0.0 | Color, FA, ICGA, OCT | 2.0±0.0 |
| 16 | 66 | G3556C, Other | 4.3±0.5 | Color, FA, ICGA, OCT | 4.0±0.0 |
| 17 | 48 | C3670T, G3556C | 5.3±0.5 | Color, FA, ICGA, OCT | 2.0±0.0 |
| 18 | 63 | G3556C, Other | 6.7±0.6 | Color, FA, ICGA, OCT | 2.3±0.5 |
| 19 | 97 | G3556C, G3556C | 2.0±0.6 | Color, FA, ICGA, OCT | 5.0±0.0 |
| 20 | 30 | G3556C, Other | 11.0±0.0 | Color, FA, ICGA, OCT | 1.0±0.0 |
| 21 | 57 | C3670T, C3670T | 5.0±0.0 | Color, FA | 3.5±0.6 |
| 22 | 79 | C3670T, Other | 4.0±0.0 | Color, FA | 3.0±0.0 |
| 23 | 58 | C3670T, C3670T | 7.3±1.0 | Color, FA | 1.3±0.5 |
| 24 | 58 | Other, Other | 5.0±0.6 | Color, FA | 1.5±0.6 |
| 25 | 60 | C3670T, Other | 5.0±0.5 | Color, FA | 1.0±0.0 |
1 The age of patient at the time of ophthalmic examination under anesthesia is noted in months. The neurological score was determined using the Weill Cornell LINCL clinical neurological scale as previously described [15]. The higher the neurological score indicated better neurological status. Ophthalmic evaluation of patients included a complete dilated fundus examination, color fundus photography (Color), fluorescein angiogram (FA), indocyanine green angiogram (ICGA), and spectral domain optical coherence tomography (OCT). All 25 patients (50 eyes total) underwent Color and FA. 17 patients (34 eyes, as noted in the Table) also had an OCT. ICGA was performed in 15 patients (30 eyes, as noted in the Table). Ophthalmic score was determined using the Weill Cornell LINCL Ophthalmic Severity Scale (form 1 to 5, least severe to most severe ophthalmic findings) as outlined in Table 2. Figure 1 through 5 illustrate the Standard Images used by the masked graders to determine the severity of ophthalmic findings in each patient.
2 Color - Dilated Color Fundus Photography; FA - fluorescein angiogram; ICGA - Indocyanine Green Angiogram; OCT - Spectral Domain Optical Coherence Tomography.
3Ophthalmic Score - Average of 4 independent, masked graders.