• 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
• 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)
There is no known gene defect specific for true anophthalmia.
• Prenatal ultrasound (4)[C]
• Avoidance of in utero exposures to infection or teratogen
Complete failure in the development of the primary optic vesicle during embryogenesis
• Prenatal exposure to infection or teratogen
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
• Family history of congenital ocular disease
• Known exposure to infection or teratogen in utero
• Other known associated anomalies or developmental delay
• 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
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
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.
Absence of ocular tissue in orbit
• Severe microphthalmia
• Cystic eye
• Acquired anophthalmia following trauma or surgery
• Phthisis (e.g., following infection or trauma)
• 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
Placement of serial enlarging orbital expanders, dermal fat grafting, or intraorbital balloons in severe cases (5)[C]
Regular evaluation by an ocularist. Follow orbital and periocular tissue growth especially in first 5 years of life,
• School performance and development
• Patient concerns about appearance
• Genetic counseling
• Blindness interventions
• International Children’s Anophthalmia and Microphthalmia Network (www.anophthalmia.org)
Depends on associated systemic anomalies
1. Dolk H, Busby A, Armstrong BG, et al. Geographical variation in anophthalmia and microphthalmia in England, 1988–1994. Br Med J 1998;317:905–909.
2. Yoon PW, Rasmussen SA, Lynberg MC, et al. The National Birth Defects Prevention Study. Public Health Rep 2001;116(Suppl 1):32–40.
3. Lamer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med 1985;313:837–841.
4. Wong HS, Parker S, Tait J, Pringle KC. Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: A novel application of the reverse face view. Ultrasound Obstet Gynecol 2008;32:103–105.
5. Schittkowski MP, Guthoff RF. Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: Preliminary results with a new therapeutic approach. Br J Ophthalmol 2006;90(9):1173–1177.