Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review

Table 2

Frequency of ocular findings.

Ocular findings	Number (n)	Frequency (%)
Abnormal palpebral fissures	18	41.9
Downslanting	12	66.7
Upslanting	1	5.6
Narrow	5	27.8
Short	6	33.3
Long	1	5.6
Deep-set eyes	9	20.9
Ptosis	8	18.6
Hypertelorism	8	18.6
Epicanthal folds	4	9.3
Strabismus	4	9.3
Retinitis pigmentosa	2	4.7
Coloboma	2	4.7
Blepharophimosis	2	4.7
Hypotelorism	2	4.7
Hyperopia	2	4.7
Full lateral part of the upper eyelids	2	4.7
Iris heterochromia	1	2.3
Thick supraorbital ridge	1	2.3
Microphthalmia	1	2.3
Chorioretinitis	1	2.3
Prominent eyes	1	2.3
Horizontal nystagmus	1	2.3
Retinal dystrophy	1	2.3
Absent tear ducts	1	2.3
Eyelid eversion	1	2.3
Long eyelashes	1	2.3
Sagging lateral upper eyelids	1	2.3
Prominent infraorbital skin creases	1	2.3
Epicanthus inversus	1	2.3
Telecanthus	1	2.3
Posterior embryotoxon	1	2.3

Frequency within the subset of patients presenting with abnormal palpebral fissures.