Diagnosis and Recommended Work-up

The diagnosis of anophthalmia is usually made by a pediatrician or a pediatric ophthalmologist during an external examination of the ocular structures shortly after birth. The examining physician will open the eyelids to check for presence of eye tissue. If unilateral (one eye is involved), a thorough dilated eye exam should be performed on the other eye to determine if there are any other eye malformations that might lead to reduced vision. The first test to be done is often an ultrasound of the orbits. Usually an MRI of the orbits is also necessary to make an accurate diagnosis.

Many health care providers should be involved in the care of an infant who has A/M and his/her family. They are needed to help the baby and the family meet challenges related to A/M and to live as healthy a life as possible. The team should include an ocularist, oculoplastic surgeon, pediatric ophthalmologist, geneticist, genetic counselor, pediatrician and other specialists as needed (for example neurologist, endocrinologist).

A geneticist ( a physician who is an expert in genetic conditions) and a genetic counselor (a medical professional who specialized in support and information sharing) can help the family coordinate special care and early intervention for the child. They will also offer ongoing support and help find resources in your area.

The genetics team will undertake a detailed evaluation including medical and pregnancy history to try to identify the cause of A/M. Genetic testing may help to make a diagnosis but a normal chromosome test does not rule out a genetic cause for A/M. The chromosomes do not show submicroscopic gene changes. As more is being discovered about the eye development genes, more genes that cause A/M are being identified. These would not show on a chromosome study. Given the rapid pace of changes in genetics, the child should be seen again by the geneticist in 2-3 years when new information may help to make the diagnosis. The geneticist or genetic counselor can also help discuss the possibility of this happening again in the family.

For questions or assistance contact Adele Schneider, MD, Clinical Geneticist at 215-456-8722. (Genetics Division, Albert Einstein Medical Center, Philadelphia). They can help provide guidance for appropriate services and treatment and make referrals to specialists in your city or town.


  • Chromosomes, G-banding
  • CGH (Comparative Genomic Hybridization)
  • SOX2 gene test
  • Ophthalmology exam
  • Ophthalmology exam for both parents and siblings
  • Ocularist Evaluation
  • Kidney ultrasound
  • Hearing screen
  • Echocardiogram (if murmur heard)