Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases

Table 5

Common GJA1 mutations with associated eye features.

Sources	Multiple mutations?	GJA1 mutation		Individuals with GJA1 mutation (confirmed and affected relatives)	Associated eye features
		Nucleotide	Protein	Total
Quick and Dobersen 2014; National Center for Biotechnology Information 2020	Yes	c.605G>A	p.R202H	1	Microphthalmia (1)
		c.717G>A	p.R239R
Paznekas et al. 2009; Paznekas et al. 2003	No	c.605G>A	p.R202H	17	Microphthalmia (1), microcornea (2)
Nishat et al. 2012; Paznekas et al. 2009; Paznekas et al. 2003; and Amador et al. 2008	No	c.389T>C	p.I130T	17	Microphthalmia (4), hypotelorism (6), cataract (1), pale/atrophic optic disc (1), and short palpebral fissures (4)
Park et al. 2019; Hayashi et al. 2014; Paznekas et al. 2009; Debeer et al. 2005; and Paznekas et al. 2003	No	c.119C>T	p.A40V	17	Microphthalmia (9), hypertelorism (3), hypotelorism (4), short axial length (4), cataract (1), microcornea (8), thick cornea (4), macular hypoplasia (1), shallow anterior chamber (4), myopia (4), strabismus (6) (1 esotropic), glaucoma (6), and epicanthus (3)