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

Table 1

Ocular findings by patient.

Patient	Year	Reference	Ophthalmic findings
1	2019	Stingl et al. (this report)	Intermittent exodeviation, mild hyperopia bilaterally, ptosis of the left eyelid, and a posterior embryotoxon bilaterally
2	2018	Dell’Edera et al. [8]	Hypertelorism (interpupillary distance of 2.9 cm), mildly downslanting palpebral fissures
3	2018	Gatti et al. [22]	Downslanting palpebral fissures, slight eversion of the lateral third of the lower eyelid, long eyelashes
4	2015	Moreno-Igoa et al. [13]	Short and upslanting palpebral fissures, hypertelorism, epicanthal folds, ptosis of the eyelids, iris heterochromia
5	2014	D’Angelo et al. [7]	Deep-set eyes
6	2014	Pebrel-Richard et al. [14]	Acute visual impairment appeared with retinitis pigmentosa and progressive visual loss
7	2014	Gerundino et al. [21]	Downslanting palpebral fissures with deep-set eyes
8	2012	Kino et al. [11]	Hypertelorism
9	2012	Tabet et al. [18]	Deep-set eyes, thick supraorbital ridge
10	2011	Barge-schaapveld et al. [6]	Patient 1: sagging lateral upper eyelids
11			Patient 4: Full lateral part of the upper eyelids
12			Patient 3: right-sided convergent strabismus, hypotelorism, narrow palpebral fissures, full lateral part of the upper eyelids, relatively thin eyebrows with lateral notches
13	2011	Schaaf et al. [15]	Prominent eyes
14			Mild horizontal nystagmus on extreme lateral gaze
15	2010	Bardakjian et al. [5]	Left microphthalmia, persistent hyperplastic primary vitreous and posterior coloboma, right posterior pole coloboma
16	2010	Shinawi et al. [9]	Mild hypertelorism
17			Downslanting palpebral fissures
18			Deep-set eyes
19			Hypertelorism
20			“Almond shaped” eyes
21			Hypertelorism
22	2010	Fernandez et al. [17]	Proband 2, 13yo boy: long, narrow palpebral fissures
23			proband3c (mother): deep-set eyes
24			Proband 3, 5 yo male: hypertelorism (inner canthal distance 3.4 cm, > +2SD)
25	2010	Sampson et al. [20]	Retinal dystrophy, retinitis pigmentosa
26	2009	Shimojima et al. [16]	Bilateral ptosis
27	2009	Hemple et al. [23]	Deep-set eyes
28	2009	Bijlsma et al. [24]	Short palpebral fissures
29			Short and down-slanted palpebral fissures
30			Hypertelorism, bilateral epicanthic folds, short palpebral fissures, mild ptosis
31			Prominent infraorbital skin creases
32			Slightly deep-set eyes
33			Mild ptosis
34			Blepharophimosis, ptosis, epicanthus inversus, telecanthus
35			Downslanting and narrow palpebral fissures
36			Downslanting and narrow palpebral fissures
37	2008	Kumar et al. [12]	Downslanting palpebral fissures
38	2007	Ballif et al. [19]	Downslanting palpebral fissures; bilateral epicanthal folds; deep-set eyes; absent tear ducts; strabismus
39			Short and downslanting palpebral fissures; relative hypotelorism (3rd–10th percentile)
40			Downslanting palpebral fissures; left epicanthal fold; hypotelorism
41			Downslanting palpebral fissures; mild epicanthal folds; deep-set eyes
42			Narrow and slightly short palpebral fissures; relative hypertelorism (0 to +1SD); ptosis (right eye); strabismus (left eye); hyperopia
43	2002	Hernando et al. [10]	Blepharophimosis, coloboma and unilateral chorioretinitis (right eye)