BASICS

DESCRIPTION

• Absence of globe. Must be distinguished from severe microphthalmia in which globe remnants may only be detectable by ultrasound, neuroimaging, or tissue biopsy (e.g., exenteration or autopsy).

• With or without systemic disease

EPIDEMIOLOGY

10–19 per 100,000 newborns (1) (2)[C]

RISK FACTORS

• Chromosomal aberrations, syndromes, and congenital disorders

• Intrauterine factors:

– Prenatal exposure to teratogenic factors including radiation, alcohol, thalidomide, retinoic acid (3)[C], hydantoin, and lysergic acid diethylamide (LSD)

Genetics

There is no known gene defect specific for true anophthalmia.

GENERAL PREVENTION

• Prenatal ultrasound (4)[C]

• Avoidance of in utero exposures to infection or teratogen

PATHOPHYSIOLOGY

Complete failure in the development of the primary optic vesicle during embryogenesis

ETIOLOGY

• Genetic

• Prenatal exposure to infection or teratogen

• Idiopathic

COMMONLY ASSOCIATED CONDITIONS

• No consistent systemic associations

• Midline craniofacial anomalies

• Developmental delay (often severe) with chromosomal aberration or other systemic syndromic findings

• Craniofacial disproportion with enophthalmic appearance and small palpebral fissures and lids

DIAGNOSIS

HISTORY

• Family history of congenital ocular disease

• Known exposure to infection or teratogen in utero

• Other known associated anomalies or developmental delay

PHYSICAL EXAM

• The condition may affect one or both eyes.

– Reduced orbital volume with enophthalmic appearance

– Eyelids may appear normal, small, or partially fused. Lashes, tarsal glands and lacrimal gland and drainage system are usually present.

• Systemic examination for other anomalies, especially brain anomalies

• Complete eye examination of both parents looking for coloboma – if present suggests that the child has severe microphthalmia rather than true anophthalmia

DIAGNOSTIC TESTS & INTERPRETATION

Lab

Initial lab tests

• None if no extraocular findings

• Karyotype/microarray if other congenital anomalies are present

• Molecular genetic testing for mutations in syndromes reportedly associated with anophthalmia

Follow-up & special considerations

• Must follow orbital and periorbital growth

• Follow for developmental delay

Imaging

Initial approach

MRI and CT show the absence of ocular tissue, optic nerve, and extraocular muscles.

Follow-up & special considerations

Serial CT scan may assist in evaluating bony growth.

Pathological Findings

Absence of ocular tissue in orbit

DIFFERENTIAL DIAGNOSIS

• Severe microphthalmia

• Cystic eye

• Acquired anophthalmia following trauma or surgery

• Phthisis (e.g., following infection or trauma)

• Cyclopia/synophthalmia

TREATMENT

MEDICATION

None

ADDITIONAL TREATMENT

General Measures

• Safety glasses to protect the good eye in unilateral cases

• Scleral shell to encourage periorbital tissue growth

Issues for Referral

• Genetic consultation

• Special education and referral to services for the blind

SURGERY/OTHER PROCEDURES

Placement of serial enlarging orbital expanders, dermal fat grafting, or intraorbital balloons in severe cases (5)[C]

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Regular evaluation by an ocularist. Follow orbital and periocular tissue growth especially in first 5 years of life,

Patient Monitoring

• School performance and development

• Patient concerns about appearance

PATIENT EDUCATION

• Genetic counseling

• Blindness interventions

• International Children’s Anophthalmia and Microphthalmia Network (www.anophthalmia.org)

PROGNOSIS

Depends on associated systemic anomalies