ALTERNATE NAMES

Bilateral Eye Agenesis; Clinical Anophthalmia; Complete Bilateral Eye Absence; Congenital Absence of Both Eyes; Congenital Anophthalmia; Congenital Bilateral Anophthalmia; Missing Both Eyeballs; Missing Both Eyes; No Eyes on Both Sides and Severe Microphthalmia

DESCRIPTION

Bilateral anophthalmia is a rare condition characterized by the absence of both eyes in the presence of eyelids, conjunctiva (thin, transparent membranes that line the eyelids and cover the whites of the eye), and lacrimal apparatus (system of glands, ducts, and sacs that produce and drain tears).

The exact cause of bilateral anophthalmia is unknown. Chromosomal duplications, deletions, and translocations are implicated. Mutations in the SOX2 gene has been identified as a major causative gene.

Conditions that may contribute to bilateral anophthalmia include:

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  Genetic mutations that occur before the baby is born. These changes may also cause other birth defects;

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  Taking certain medications during pregnancy including Accutane, a medicine that treats severe acne, and thalidomide, a medicine that treats certain skin problems and some types of cancer; and

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  Prenatal exposure to harmful things in the environment such as x-rays, chemicals, drugs, pesticides, radiation, and viruses.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of bilateral anophthalmia is made by:

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  Prenatal ultrasounds;

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  Amniocentesis;

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  Prenatal tests;

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  Physical examination;

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  Magnetic resonance imaging (MRI); and

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  Computerized tomography (CT) scan.

Physical findings: Signs and symptoms of bilateral anophthalmia include:

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  Small eye sockets;

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  Short eyelids;

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  Blindness;

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  Malar prominence (cheek bones that are more prominent than normal); and

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  Constricted sockets (narrow eye sockets).

ICD-9: 743.0

ICD-10: Q11.1

PROGRESSION

Bilateral anophthalmia develops during pregnancy and can occur alone, with other birth defects, or as part of a syndrome. Infants born with bilateral anophthalmia are congenitally blind at birth and will remain blind for all their life.

TREATMENT

There is no cure for bilateral anophthalmia. Children with this condition should be frequently monitored by a team of eye specialists. These specialists may include:

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  An ophthalmologist, a provider specially trained to care for eyes;

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  An ocularist, a provider specially trained to make and fit prosthetic eyes; and

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  An oculoplastic surgeon, a provider who specializes in surgery for the eye and eye socket.

The eye sockets are critical for a baby’s face to grow and develop properly. If a baby has bilateral anophthalmia, the bones that shape the eye socket may not grow properly. Babies can be fitted with a plastic structure called a conformer that can help the eye socket and bones to grow. As babies get older, these devices will need to be enlarged to help expand the eye socket, they can also be fitted for artificial eyes.

Babies born with bilateral anophthalmia can often benefit from early intervention and therapy to help their development and mobility.

Suggested MER for Evaluation:

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  Clinical history and ocular examination that describes diagnostic features of the impairment.

Suggested Listings for Evaluation:

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