Table 4 Demographics and data of people with the cardiofaciocutaneous syndrome undergoing an ophthalmological examination.
| Case number, sex | Age at eye exam | Documented CNS symptoms | Strabismus type (PD) | Ocular surgery | Best corrected VA | Refractive error | Astigmatism >1 D | Ocular refraction | Spectacle correction | Amblyopia | Nystagmus | Optic nerve findings | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1, F | 8 years, 4 months | + | RHT; XT | Strabismus surgery (3 years) | 20/60 OU | – | − | – | − | − | + | – | DVD; IOOA; NLDO; Brown syndrome |
| 2, M | 6 years, 6 months | − | 30 XT | Strabismus surgery (at 4 years, 2 months) | 20/160 OU | Myopia | + | OD: −3.00 +0.50 ×12; OS: −2.50 +1.50 ×167 | + | − | + | ON hypoplasia | inferior visual field deficit; decreased contrast sensitivity; light sensititivity |
| 3, F | 3 years, 3 months | + | – | – | 20/90 OU | Mild hyperopia | − | OD: +3.00 +0.50 ×93; OS: +3.50 sphere | + | − | − | – | – |
| 4, F | 4 years, 11 months | − | Accommodative ET | − | – | Mild hyperopia | − | OU: +3.50 sphere | + | + | − | – | – |
| 5, M | 3 years | − | 10 X(T) | − | – | Hyperopia | − | OD: +5.50 sphere; OS: +4.50 sphere | − | + | − | – | – |
| 6, F | 9 years, 11 months | − | XT | − | F&F | Myopia | + | – | − | − | − | ON hypoplasia | – |
| 7, F | 2 years | − | – | − | F&F | – | − | – | − | − | + | – | – |
| 8, M | 6 years, 4 months | + | XT | – | LP | – | − | – | − | − | + | – | Cortical vision loss |
| 9, M | 4 years, 3 months | + | 35 X(T) | – | F&F | Myopia | + | OD: −2.50 +2.00 ×90; OS: −1.50 +2.00 ×90 | + | − | − | ON atrophy | Ptosis bilaterally |
| 10, F | 1 years, 6 months | + | XT | – | F&F | Mild hyperopia | + | – | + | − | − | – | – |
| 11, F | 1 year | − | 10 RHT; 30 XT | – | – | Mild hyperopia | − | OU: +1.25 sphere | − | + | + | Small optic nerves | – |
| 12, M | 12 years, 2 months | − | XT | Strabismus surgery | 20/100 OD; 20/50 OS | Myopia | − | – | − | + | + | ON hypoplasia | Lamellar cataracts bilaterally |
| 13, M | 26 years | + | – | – | 20/400 OU | – | − | – | − | − | + | – | Dense visual opacity; keratoconus |
| Total | 6 (46%) | 10 (77%) | 3 (23%) | 9 (69%) | 4 (31%) | 5 (38%) | 4 (31%) | 7 (54%) | 5 (38%) |
+, present, ‐, absent; CNS, central nervous system; D, dioptres; DVD, dissociated vertical deviation; ET, esotropia; F, female; F&F, fix and follows; IOOA, inferior oblique overaction; LP, light perception; M, male; NLDO, nasolacrimal duct obstruction; OD, right eye; ON, optic nerve; OS, left eye; OU, both eyes; PD, prism diopters; RHT, right hypertropia; VA, visual acuity; XT, exotropia; X(T), intermittent exotropia.