From the Research
Treatment for anophthalmia should focus on maximizing quality of life through a multidisciplinary approach, including early intervention with conformers, genetic counseling, and regular follow-up with ophthalmologists, oculoplastic surgeons, and prosthetists. For infants with anophthalmia, early intervention with conformers (clear plastic shapes) is essential to stimulate orbital socket growth, typically started within weeks of birth 1. These are gradually replaced with progressively larger prosthetic eyes as the child grows. Surgical procedures may be needed to expand the eye socket, which might include orbital expanders or, in some cases, orbital reconstruction. Genetic counseling is recommended for families to understand recurrence risks, as anophthalmia can be associated with genetic mutations, such as those in the TFAP2A, CHD7, FOXE3, and BCOR genes 1. Children with anophthalmia require regular follow-up with ophthalmologists, oculoplastic surgeons, and prosthetists to adjust treatments as they grow. Early developmental intervention and psychological support are also important components of care, as children may face social and emotional challenges.
Some key considerations in the treatment of anophthalmia include:
- Early intervention with conformers to stimulate orbital socket growth
- Genetic counseling to understand recurrence risks and identify potential genetic mutations
- Regular follow-up with ophthalmologists, oculoplastic surgeons, and prosthetists to adjust treatments as the child grows
- Surgical procedures to expand the eye socket, if necessary
- Early developmental intervention and psychological support to address social and emotional challenges
The goal of treatment is to achieve the best possible facial symmetry, prevent orbital deformities, and support normal psychosocial development despite the absence of functional vision in the affected eye(s) 1, 2. A multidisciplinary approach, including genetic assessment, imaging, and visual evoked potentials, is necessary to cover all aspects of anophthalmia and microphthalmia 1. By prioritizing a multidisciplinary approach and early intervention, children with anophthalmia can achieve the best possible outcomes and quality of life.