TABLE I.
Eye Abnormalities in 12 Previously Reported Patients With Fryns Syndrome and our Three new Patients
| Eye abnormalities | Our patients | Number of eye abnormalities reported | Literaturea | ||
|---|---|---|---|---|---|
| 1 | 2 | 3 | |||
| Anophthalmia | − | − | − | 2 | N, O |
| Microphthalmia, unilateral | − | + | − | 1 | O |
| Microphthalmia, bilateral | − | − | − | 1 | E |
| Macrophthalmia | − | − | − | 1 | I |
| Corneal clouding, unilateral | − | − | − | 1 | G |
| Corneal clouding, bilateral | − | + | − | 8 | A(2), B, C, D, F, L, M |
| Attenuation of retinal arteries | − | − | − | 1 | B |
| Cataracts | − | − | − | 1 | J |
| Buphthalmos, unilateral | − | − | − | 1 | H |
| Megalocornea | − | − | − | 1 | H |
| Coloboma of the iris, unilateral | − | − | − | 1 | M |
| Coloboma of the iris, bilateral | − | − | − | 1 | M |
| Retinal dysplasia | − | − | − | 2 | E(2) |
| Hypoplastic optic tracts by MRI | − | − | − | 1 | K |
| Hypoplastic optic tracts at autopsy | − | − | − | 1 | G |
| Optic nerve, pallor | − | − | − | 1 | K |
| Prominent eye globes | − | − | − | 1 | M |
| Total number of abnormal eye findings seen in 12 of 77 reported patients | 26 | ||||
a
A: Fryns et al. [1979], B: Young et al. [1986], C: Samueloff et al. [1987], D: Moerman et al. [1988], E: Ayme et al. [1989], F: Bamforth et al. [1989], G: Cunniff et al. [1990], H: Hanssen et al. [1992], I: Ficcadenti et al. [1993], J: Riela et al. [1995], K: Van Hove et al. [1995], L: Cursiefen et al. [2000], M: Ramsing et al. [2000], N: Pierson et al. [2002], O: Arnold et al. [2003]. Two of two patients reported by Fryns et al. [1979] and two of eight patients reported by Ayme et al. [1989] were found with the specific eye findings listed.