TABLE 2.

OCULAR AND SYSTEMIC FINDINGS ASSOCIATED WITH PEDIATRIC COLOBOMAS

RECORD NUMBER	AGE	RACE/GENDER	OCULAR FINDINGS	SYSTEMIC FINDINGS
Patient 1	17 mo	W/F	Microphthalmos; retinal aplasia; scleral ectasia; corneal scarring; optic atrophy; coloboma of iris, retina, and choroids
Patient 2	3 mo	B/M	Cataract, posterior lens epithelial cells, persistent hyperplastic primary vitreous, retinal dysplasia, coloboma, sclera cartilage	Trisomy 13, intraventricular septal defect, patent ductus arteriosus, right ventricular hypertrophy, cystic disease of kidneys, hydrocele, polydactylism, umbilical hernia
Patient 6	2 days	W/M	Posterior embryotoxon cornea; incomplete cleavage of angle; coloboma of iris, choroid, opticus; tunica vasculosa lentis; microphthalmos	Trisomy 13 (Patau), tetralogy of Fallot, persistent left superior vena cava, low-set ears, cleft lip and palate, undescended testes, polydactyly (double 5th digit), varus deformity of feet
Patient 10	18 mo	W/F	Microphthalmos with cyst; cataract; incomplete angle cleavage; coloboma of optic nerve, choroid; glial proliferation in coloboma
Patient 11	7 mo	W/F	Microphthalmos; tunica vasculosa lentis; coloboma of retina, disc, sclera; retinal dysplasia	Tetralogy of Fallot, Blalock-Taussig, aberrant right subclavian artery, malformation right ear, square cranium
Patient 12	2 days	W/M	Abnormal cleavage of angle; coloboma of iris, ciliary body, retina, sclera; cataract; tunica vasculosa lentis; persistent primary hyperplastic vitreous; hypoplasia of disc; retinal dysplasia; microphthalmos	Peculiar face; congenital heart disease; aortic atresia; skin tag, right ear; malrotation of bowel; hypoplasia of fingernails
Patient 16	8 mo	W/F	Microphthalmos, cataract, persistent primary hyperplastic vitreous, retinal detachment, aplasia optic nerve
Patient 18	2 days	M	Synophthalmus; microphthalmos; retinal dysplasia; coloboma of iris, retina, choroids; hypoplasia of iris, ciliary body, meshwork; tunica vasculosa lentis	Holoprosencephaly, hypoplastic pituitary, hypoplastic adrenals
Patient 19	3 days	W/M	Microcornea; coloboma of iris, choroid, opticus; retinal dysplasia	Triploidy, hypoplasia of hypophysis
Patient 20	25 days	W/F	Coloboma of choroids, retinal dysplasia, optic nerve hypoplasia, overhang of choroid and sclera	Hydrocephalus, chromosomes normal, sepsis
Patient 21	1 day	W/M	Coloboma of iris, choroid, optic nerve; cataract; tunica vasculosa lentis; retinal dysplasia	Potter’s syndrome, trisomy 14, renal agenesis, omphalocele, patent foramen ovale, micrognathia, clubbed feet, cephalohematoma, ear displacement
Patient 23	8 days	W/F	Microphthalmos; coloboma of iris, ciliary body, choroid, sclera; persistent hyperplastic primary vitreous; retinal dysplasia; optic nerve hypoplasia	Trisomy 13 (Patau), low-set ears, polydactyly, abnormal pulmonary valve, intestinal malrotation, base of skull anomaly
Patient 24	8 days	B/F	Coloboma of iris, choroid, optic nerve; cataract; persistent primary hyperplastic vitreous; retinal dysplasia; cartilage	Trisomy 13 (Patau), patent ductus arteriosus, low-set malformed ears, 6 digits, hypertelorism, cardiomegaly, simian crease, septate vagina
Patient 25	3 mo	F	Coloboma of iris, ciliary body, choroid, macula; retinal dysplasia; ectopic retina in sclera	Charge syndrome, square face, malar flattening, anteverted nares, cardiac anomalies, large pinnae, renal malformation