Chromosomal abnormalities are only a minority of cases of anophthalmia. Postnatal diagnosis
MRI/CT
MRIs and CTs can be used to scan the brain and orbits. Radiologists use this to assess the internal structures of the globe, the optic nerve and extraocular muscles, and brain anatomy. Examination
Physicians, specifically ophthalmologists, can examine the child and give a correct diagnosis. Some will do molecular genetics tests to see if the cause is linked with gene mutations. Genetic testing can include chromosomal microarray analysis, single-gene testing, or multigene-panel testing. Genomic testing including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if single-gene testing or use of a multigene panel fails to confirm a molecular diagnosis. Associations
There are a few conditions that are associated with Anophthalmia. These include:
Trisomy 13
Lenz Syndrome
Goldenhar-Gorlin Syndrome
Waardenburg syndromeAside from these associative conditions, anophthalmia in only one eye tends to be associated with complications in the other eye. These risks include a higher chance of having glaucoma or a detached retina. Treatments
Prosthetic eye
Currently, there is not a treatment option for regaining vision by developing a new eye. There are, however, cosmetic options so the absence of the eye is not as noticeable. Typically, the child will need to go to a prosthetic specialist to have conformers fitted into the eye. Conformers are made of clear plastic and are fitted into the socket to promote socket growth and expansion. As the childs face grows and develops, the conformer will need to be changed. An expander may also be needed in anophthalmia to expand the socket that is present.
Periorbital sensory loss and impaired corneal reflex may be noted. Papilledema, retinal hemorrhages, and decreased visual acuity and blindness may occur from venous congestion within the retina. Fever, tachycardia and sepsis may be present. Headache with nuchal rigidity (neck stiffness) may occur. One or both pupils may be dilated and sluggishly reactive. Infection can spread to contralateral cavernous sinus within 24–48 hours of initial presentation. Cause
Septic CST most commonly results from contiguous spread of infection from a nasal furuncle (50%), sphenoidal or ethmoidal sinuses (30%) and dental infections (10%). Less common primary sites of infection include tonsils, soft palate, middle ear, or orbit (orbital cellulitis). The highly anastomotic venous system of the paranasal sinuses allows retrograde spread of infection to the cavernous sinus via the superior and inferior ophthalmic veins. It was previously thought that veins in the area were valveless and that this was the major cause of the retrograde spread, but studies have since shown that the ophthalmic and facial veins are not valveless.Staphylococcus aureus is the most common infectious microbe, found in 70% of the cases. Streptococcus is the second leading cause. Gram-negative rods and anaerobes may also lead to cavernous sinus thrombosis. Rarely, Aspergillus fumigatus and mucormycosis cause CST.Aseptic cavernous sinus thrombosis is much less common and is usually associated with other disorders including trauma, circulatory problems, nasopharynx cancers and other tumors of the skull base, dehydration, and anemia. Diagnosis
The diagnosis of cavernous sinus thrombosis is made clinically, with imaging studies to confirm the clinical impression.