In the left eye the diagnosis was Anophthalmia
, which is to say that the left eye is completely absent," it said.
One of the reasons that this lack of knowledge needs to be addressed is that congenital malformations of the eye, such as anophthalmia
, microphthalmia and coloboma, are relatively common in humans and can cause severe visual impairment or more severe craniofacial phenotypes.
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia
and central nervous system defects.
Genetic eye disease spans developmental eye defects such as structural globe anomalies (microphthalmia, anophthalmia
, ocular coloboma), anterior segment dysgenesis (including aniridia and sclerocornea), congenital cataracts, primary congenital glaucoma, congenital nystagmus, optic nerve disorders (ranging from hypoplasia to morning glory disc anomaly), to later childhood and adult-onset disorders including corneal and retinal dystrophies, and hereditary optic neuropathies.
(3,4) Developmental defects in embryogenesis cause ocular malformations in a spectrum from congenital cataract to anophthalmia
* Selected congenital eye anomalies: microphthalmia or anophthalmia
; coloboma; cataract; intraocular calcifications; chorioretinal anomalies involving the macula (e.g., chorioretinal atrophy and scarring, macular pallor, and gross pigmentary mottling), excluding retinopathy of prematurity; optic nerve atrophy, pallor, and other optic nerve abnormalities.
A 10-month-old patient weighing 5.5 kg was presented with a history of Peters plus syndrome, left anophthalmia
, and right microphthalmia; corpus callosum hypoplasia, pychomotor retardation, and laryngomalacia with intense inspiratory stridor.
In the National Birth Defects Prevention Study by Crider and colleagues, nitrofurantoin was associated with anophthalmia
or microphthalmos (adjusted odds ratio [AOR], 3.7; 95% confidence interval [CI], 1.1-12.2), hypoplastic left heart syndrome (AOR, 4.2; 95% CI, 1.9-9.1), atrial septal defects (AOR, 1.9; 95% CI, 1.1-3.4), and cleft lip with cleft palate (AOR, 2.1; 95% CI, 1.2-3.9).
The percentage of embryos with structural abnormalities (such as anophthalmia
, excencephaly or limbs alteration) was 0.54%, value considered too low as to be attributed to abnormal handling conditions.
Lynch et al., "Mutations in SOX2 cause anophthalmia
," Nature Genetics, vol.
One of these dysplasias is congenital anophthalmia
, which is defined as a complete absence of the eye due to a developmental lack (primary anophthalmia
) or an early differentiation arrest (secondary anophthalmia
) of the optic vesicles during early phases of gestation .
Several congenital ocular defects in pigs, such as anophthalmia
, macro- and microphthalmia, and cyclopia, have been documented in the veterinary literature .