Table 1.

Summary of genetic and clinical features of microphthalmia/anophthalmia patients included in this study

Family	Gene	Genomic change (GRCh37/hg19)	Nucleotide change	Protein change	Status	Pattern of inheritance	Patient	Gender	Age	Ocular phenotype	BCVA	Axial length (mm)	Extraocular phenotype
MA_1	OTX2	g.57269051G>T	c.272C>A	p.(Ala91Asp)	Het	Autosomal dominant with incomplete penetrance	III:2	Female	1	Bilateral anophthalmia, absence of optic nerves and quiasm	NLP	NA	None
MA_2	PAX6	g.31824262C>G	c.131G>A	p.(Arg44Pro)	Het	Autosomal dominant showing gonosomal mosaicism	III:3	Female	43	Mild bilateral microphthalmia, bilateral congenital cataract, nystagmus, foveal hypoplasia	20/65; 20/65	20.63/20.14	None
							III:5	Female	38	Mild bilateral microphthalmia, bilateral congenital cataract, nystagmus, foveal hypoplasia	20/65; 20/100	20.85/20.75	None
							IV:3	Female	4	Shortened axial length, unilateral central cataract, nystagmus, strabismus, hyperopia (+5)	20/100; 20/100	18.89/19.00	None
							IV:4	Male	1	Unilateral central and cortical cataract, hyperopia (+4)	20/380; 20/380a	19.00/19.00	None
MA_3	RBP4	g.95353754A>T	c.394T>A	p.(Tyr132Asn)	Het	Autosomal dominant showing skewed maternal transmission, de novo phenomenon or incomplete penetrance	III:3	Male	64	Bilateral microphthalmia and coloboma	20/2000; 20/2000	‐	None

BCVA, best corrected visual acuity; Het, heterozygous; NLP, no light perception; NA, not applicable.

^aTested with Teller Acuity Cards.