Genetics is very crucial in determining a person's overall appearance, body parts, hair, features of the face, so on and so forth. Since they affect a person at birth, we call them inherited diseases and disorders. There are certain conditions that can be cured as the person grows while most can only be managed. Amongst many inherited eye ailments, are two such interrelated eye disorders that some humans inherit or get affected with after birth. Anophthalmia is when a baby is born without one or both eyes, while Microphthalmia is when a new-born baby has eyes that are extremely smaller than usual. Both conditions are rare and primarily genetic and can cause partial or total vision loss. While, at present, no treatment can get bring back lost vision for people born with no sight or create eyes for both these vision problems, however, early treatment can help deterioration for infants who are born with any of these conditions. 

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anophthalmia

Associated Conditions With Anophthalmia and Microphthalmia: 

While patients with anophthalmia and microphthalmia have vision related issues, they may also have co-related conditions such as: 

  • Small eye sockets or bones around the eyes that alters the shape of the entire face
  • Coloboma, which is when the normal tissues around the eyes are missing
  • Cataract  
  • Microcornea- when the frontal layer of the eye is abnormally curved
  • Birth defects that cause underlying health issues

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Causes Of Anophthalmia And Microphthalmia 

While the exact cause of anophthalmia and microphthalmia is unknown, the most probable reasons are as follows: 

  • Changes in genes or genetic mutations that can happen during pregnancy 
  • Taking certain medicines in the times of pregnancy can be a reason for anophthalmia and microphthalmia 
  • Coming into contact with harmful rays such as X-rays, drugs, and radiation during pregnancy 
  •  Coming into contact with pathogens and viruses can cause these eye disorders when pregnant

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How To Reduce The Risk Of Anophthalmia And Microphthalmia?

In order to reduce the unborn baby’s risk of having anophthalmia and microphthalmia, it is essential to get a prenatal check-up done during the first few weeks of pregnancy. The treating gynaecologist should be informed about the medicines that are being used. A visit to a genetic counsellor can also be helpful besides staying away from a harmful environment that could be detrimental to the mother's as well as the baby's health. 

Diagnosis

Diagnosis of these conditions during pregnancy or after the baby is born is possible. During pregnancy, doctors can check for anophthalmia and microphthalmia with ultrasound, CT scan and genetic testing to determine mild or severe genetic disorders. After the baby is born, the doctor can diagnose the extent of these problems by taking a thorough examination of the new-born. 

Treatment Options For Anophthalmia And Microphthalmia?

At present no treatment can create new eyes or restore the vision of the patient, however, if diagnosed on time, an early course of treatment can help people to reduce their risk of anophthalmia and microphthalmia. 

The following tools can be helpful in managing the disease: 

Conformers

Babies and children suffering from these vision problems may need special devices which are also called conformers. These can help a child's eye socket to develop better. Prosthetic eyes can also be utilized to change the look of patients and help in eye socket growth.  

Protective Eyewear

Protective eye gear such as prescription eyeglasses can be helpful to protect the affected eye from injuries. 

Patch

Wearing a patch on the unaffected eye may help strengthen the vision of the smaller or the affected eye. This gear will force the brain to use the normal eye for sight.