Table 1.

Summary of the ocular findings reported in patients with Myhre syndrome carrying SMAD4 mutation

Oncular finding	Number of patient with abnormality/total number of patients a
Anterior segment defects
Corectopia	1/56 (2%)
Refractory abnormality	18/56 (32%)
Strabismus	13/56 (23%)
Cataract	6/56 (11%)
Posterior segment defects
Pseudopapillema	3/56 (5%)
Papilledema	1/56 (2%)
Retinitis pigmentosa and maculopathy	2/56 (4%)

^aInclude 53 cases of the literature reviewed by Lin et al. (2016), the additional cases by Erdem, Sahin, and Tatar (2017) and Garavelli et al. (2016) published after Lin et al. (2016), and the current case.