Table 1.
Ocular findings of the patients with molecularly con firmed Myhre syndrome
| Ocular features | Patients with abnormality/patients in the literature, (%) |
|---|---|
| Anterior segment anomalies | 8/66 (12.1) |
| Axenfield Rieger anomaly with glaucoma | 1/66 (1.5) |
| Corectopia | 1/66 (1.5) |
| Cataract | 6/66 (9) |
| Posterior segment anomalies | 6/66 (9) |
| Pseudopapilledema | 3/66 (4.5) |
| Papilledema | 1/66 (1.5) |
| Retinitis pigmentosa and maculopathy | 2/66 (3) |
| Other findings | 31/66 (46.9) |
| Refractive errors | 18/66 (27.2) |
| Strabismus | 13/66 (19.6) |
Includes 53 cases of the literature reviewed by Lin et al. [2016] and the additional cases by Garavelli et al. [2016], Nomura et al. [2017], Alagia et al. [2018], Erdem et al. [2018], Alape et al. [2019], Artemios et al. [2019], Yu et al. [2019], and the present case.