Anophthalmia Causes, Signs & Symptoms

There are several eye disorders which are diagnosed among infants and small children. Some are commonly seen and heard of while some are very rare and very critical. One such eye disorder is known as Anophthalmia. This terminology explains the most critical eye disorder found amongst babies wherein either one of the two eyes or both the eyes do not develop completely, thus leaving the child without one or both eyes. As per medical analysis, it is inferred that the two most important elements of the eye i.e. the ocular tissue as well as the globe known as human eye in normal terminology are missing. It is believed that Anophthalmia is a rarely found eye disorder. This disorder is closely associated with microphthalmia. Under this terminology, either one of the eyes or both are found to be smaller in size compared to the normal size. The extreme case of microphthalmia is known as Secondary Anophthalmia.


A lot of research has been conducted on this eye disorder to find out its root cause. According to the findings so far it has been derived that Anophthalmia may be an outcome of genetic abnormality or mutations. It can also be linked with anomalous chromosome patterns. The research further indicated some additional factors responsible for such disorder. Although these factors are not the only possible cause yet they do count as one of the major causes. Factors like contact with harmful X-rays or hazardous chemicals as well as toxic pesticides and drugs are considered to be some of the known causes for Anophthalmia. In some cases, there has been no specific reason or cause derived for the occurring of such disorder and hence the research has not been conclusive so far.

Signs and Symptoms

There are several signs and symptoms associated with Anophthalmia. Some of the major signs and symptoms are missing human eyes, tiny eyes, hypothalamus development, severe improper development of brain and many more. Due to absence of the eyes, several developments are observed around that region such as bony orbit, short eyelids, diminished palpebral fissure, concentrated malar, compressed musical socket, etc. according to research, the cause for true Anophthalmia is not known.


Diagnosis of this disorder is based on various clinical experiments and tests as well as imaging studies and analysis. The process comprises A-scan ultra-sonography. With the help of this, researchers are able to measure the entire axial length. The B-scan ultra-sonography is associated the analysis and evaluation of inside pattern of the globe. The size and internal pattern of the globe is evaluated through MRI or CT scan of orbits as well as brain. This also helps in evaluation of the optic nerve, whole study of the brain and extra ocular muscles. Another major aspect of the diagnosis of Anophthalmia includes a thorough research on the parental history and family case history along with deep study of the chromosome patterns.


This disorder can be treated to quite an extent using a very common tool known to be used extensively for its treatment. This common tool is known as conformer. Conformer is not a replacement for the eye but it is known for acquiring the shape of the eye socket. It then stimulates the growth process. This equipment widens the orbit and helps the eyelid to open. Hence a prosthetic eye can be painted in that region.


Any kind of prevention measure is not possible in the case of Anophthalmia. One of the reasons for failure of prevention is owing to the genetic abnormalities being its one of the root causes. There are only ways and means to diagnose it before the birth of the child.