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. Author manuscript; available in PMC: 2023 Feb 27.
Published in final edited form as: Am J Med Genet A. 2021 Oct 23;188(2):509–521. doi: 10.1002/ajmg.a.62546

TABLE 1.

Frequency of ipsilateral eye defects among all NBDPS-eligible cataract cases (N = 592), National Birth Defects Prevention Study, 2000–2011

Unilateral cataractsa
Bilateral cataractsa
All cases (n = 592)
Total (n = 362)
Isolatedb (n = 341)
Total (n = 228)
Isolatedb (n = 189)
Ipsilateral eye defects n (%) n (%) n (%) n (%) n (%)
Persistent fetal vasculature 73 (12.3) 67 (18.5) 66 (19.4) 5 (2.2) 4 (2.1)
Microphthalmia 57 (9.6) 35 (9.7) 28 (8.2) 21 (9.2) 13 (6.9)
Glaucoma 22 (3.7) 7 (1.9) 6 (1.8) 15 (6.6) 10 (5.3)
Coloboma 16 (2.7) 12 (3.3) 11 (3.2) 3 (1.3) 1 (0.5)
Anterior segment dysgenesis 15 (2.5) 8 (2.2) 5 (1.5) 7 (3.1) 4 (2.1)
Microcornea 14 (2.4) 5 (1.4) 4 (1.2) 9 (4.0) 5 (2.7)
Corneal opacity 13 (2.2) 6 (1.7) 3 (0.9) 7 (3.1) 4 (2.1)
Optic nerve defects 13 (2.2) 6 (1.7) 4 (1.2) 7 (3.1) 3 (1.6)
Vitreoretinopathy 10 (1.7) 5 (1.4) 4 (1.2) 5 (2.2) 4 (2.1)
Lens defects 9 (1.5) 7 (1.9) 7 (2.1) 2 (0.9) 2 (1.1)
Retinal detachment 7 (1.2) 5 (1.4) 5 (1.5) 2 (0.9) 1 (0.5)
Aniridia 4 (0.7) 2 (0.6) 2 (0.6) 2 (0.9) 2 (1.1)
Nasolacrimal duct obstruction 3 (0.5) 2 (0.6) 2 (0.6) 1 (0.4) 1 (0.5)
Other eye defectsc 9 (1.5) 4 (1.1) 3 (0.9) 5 (2.2) 2 (1.1)
a

Two cases with unknown laterality excluded.

b

Includes all isolated cases, with and without ipsilateral eye defects.

c

Includes birth defects of the orbit, eyelids, cornea, and iris.