Overall, only 25% of patients received a genetic diagnosis, some categories of disease fared better than others, for example, patients with congenital cataracts (88%), retinal dystrophies (42%) but those with structural globe anomalies such as microphthalmia,
anophthalmia and ocular coloboma only had a 8% diagnostic yield; this indicates that exome-based tests are not suitable for all patients, and a more detailed screen of the whole genome would be more beneficial.
Zika/associated birth defects include selected congenital brain anomalies (intracranial calcifications; cerebral atrophy; abnormal cortical formation; corpus callosum abnormalities; cerebellar abnormalities; porencephaly; hydranencephaly; ventriculomegaly/hydrocephaly); selected congenital eye anomalies (microphthalmia or
anophthalmia; coloboma; cataract; intraocular calcifications; chorioretinal anomalies involving the macula, excluding retinopathy of prematurity; and optic nerve atrophy, pallor, and other optic nerve abnormalities); and/or microcephaly at birth (birth head circumference <3rd percentile for infant sex and gestational age based on INTERGROWTH/21st online percentile calculator [http://intergrowth21.ndog.ox.ac.uk/]).
Early orbita expansion is important to minimize facial deformity in cases of
anophthalmia or severe microphthalmia [7].
Among congenital globe abnormalities reported in pigs, such as
anophthalmia, macro- and microphthalmia, cyclopia, and retinal dysplasia, microphthalmia is the leading ocular anomaly [1, 7].
Schneider, "The genetics of
anophthalmia and microphthalmia," Current Opinion in Ophthalmology, vol.
Abnormalities found exclusive to experimental groups are as follows: Craniostenosis, short snout,
anophthalmia, microphthalmia, exophthalmia, palpabral coloboma, kyphosis, lordosis, spina bifida, prognathia, scoliosis, limb malrotation and deformation, clinodactyly, ectrodactyly, apodia, ankylodactyly, fused digits, flexed paw and hooked tail, at 44g/g B.W.
[20] Kiley et al and Konstantinova have reported associated anomalies like tracheo-oesophageal fistula, cleft lip, anencephaly,
anophthalmia and exophthalmos.
The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia, low set arm, kinky tail, exencephaly
anophthalmia, maxillary macrognathia, microcephaly, clubbed foot and microtia.
Records indicated that he had bilateral
anophthalmia with no light perception.
Teratogenic effects include abnormalities of the central nervous system, such as exencephaly, encephalocele, and
anophthalmia [15].
Watkins, "Imaging studies in congenital
anophthalmia reveal preservation of brain architecture in 'visual' cortex," Brain, vol.
Eye involvement presents with epibulbar dermoid/lipodermoid, microphthalmia,
anophthalmia, cataract, astigmatism, antimongoloid obliquity of palpebral fissures, blepharophimosis and colobomata of the upper eyelid, iris, and retina.
