Table 1

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of 207 patients (81 case reports)

Symptom Number with symptom References
Lacrimal duct problems21 15, 19-25
High myopia11 1, 7, 21,26-32
Nystagmus5 22, 28, 33-35
Pupillary abnormalities3 22, 36, 37
Microcornea/microphthalmia6 22, 38-42
Corneal abnormalities23 1, 21, 30, 31, 40, 43-49
Congenital glaucoma31 15, 25, 26, 41, 51, 52, 54-67
Iris atrophy2 30, 68
Congenital cataract15 15, 21, 24, 26,27, 33, 38, 39, 41, 53, 69, 70
Ectopia lentis1 37
Microphakia1 28
Coloboma (iris, lens, retinal, and/or optic nerve)39 1, 15, 19, 24, 27, 28, 39, 42, 48, 51, 72-83
Chorioretinal dystrophy6 32, 84-88
Optic atrophy7 1, 20, 35, 69, 89, 90
Optic disc abnormalities4 34, 63, 91, 92