[1] The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence.
[2] Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia.
In certain cases, one parent will possess the mutated gene only in their egg or sperm cell and the offspring will inherit it through that.
[4] This form of anophthalmia has variable penetrance and a unique maternal inheritance effect that is rooted in pregnancy.
If Vitamin A deficiency occurs during the first several months when the eye is developing, it may lead to anophthalmia.
This form of anophthalmia is the first that may be intervened upon with vitamin A supplementation of retinyl esters during the first several months of pregnancy.
The strongest support for environmental causes has been studies where children have had gestational-acquired infections.
A few known pathogens that can cause anophthalmia are Toxoplasma, rubella, and certain strains of the influenza virus.
The deletion of this region of chromosome has also been associated with patients having a small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism.
Radiologists use this to assess the internal structures of the globe, the optic nerve and extraocular muscles, and brain anatomy.
Physicians, specifically ophthalmologists, can examine the child and give a correct diagnosis.
[14] A Cochrane Review published in 2016 asked whether the type of material used to make the prosthetic eye affects the success of the operation.
If the material is non-porous, then the artificial eye remains separate from the rest of the body's tissue."
These surgeries can restore the function of the surrounding structures like the eyelid in order to create the best appearance possible.
A recent study in the UK indicated that anophthalmia and microphthalmia had a combined average of 1 in every 10,000 births.
[17] The most extensive epidemiological survey on this congenital malformation has been carried out by Dharmasena et al.[18] and using English National Hospital Episode Statistics, they calculated the annual incidence of anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus from 1999 to 2011.
[20] Anophthalmia and microphthalmia together make up 1.7-1.8% of reconstructive surgical cases in laboratory of plastic surgery and ocular prostheses.