Microphthalmia is a congenital condition where one or both eyes are abnormally small due to incomplete development during pregnancy. This underdevelopment can affect various ocular structures, including the cornea, lens, and retina, and may lead to significant visual impairment, ranging from reduced vision to complete blindness. Early diagnosis and intervention are important for managing the condition and supporting a child’s overall development and facial growth.
Aims of Treatment
The overarching goals of microphthalmia treatment focus on several interconnected objectives to improve both function and appearance. Maximizing any remaining vision is a primary aim, even if limited, helping individuals adapt to their unique visual capabilities.
Promoting normal facial and orbital bone development is another important goal. An underdeveloped eye can hinder the growth of the eye socket and surrounding facial structures, potentially leading to facial asymmetry. Treatment stimulates this growth to achieve better symmetry.
Achieving cosmetic symmetry is also a key objective, as the eye’s appearance can affect self-perception and social interactions. Treatment also aims to prevent complications such as psychosocial challenges. Treatment plans are often individualized and involve a team of specialists working together.
Non-Surgical Interventions
Non-surgical approaches are a key part of microphthalmia management, especially in early childhood, to encourage development of the eye socket and surrounding facial structures. Ocular prosthetics, or artificial eyes, are custom-made devices used for cosmetic appearance and to stimulate eye socket growth, providing a more balanced facial look.
Conformers or expanders are clear plastic shells placed into the eye socket, especially for children with severe microphthalmia. These custom-made devices are gradually increased in size over time to expand the eye socket and eyelids. This continuous pressure promotes the growth of the orbital bone and soft tissues.
Low vision aids and vision therapy optimize any remaining vision. Low vision aids can include optical devices like magnifiers, specialized glasses, or telescopes, as well as electronic aids. Vision therapy involves strategies to help individuals adapt to their visual impairment, such as training in visual skills, reading, and mobility. These therapies empower individuals to use their residual vision effectively for daily activities.
Management of associated conditions is also important. Microphthalmia can occur alongside systemic abnormalities, coloboma, or glaucoma. Addressing these co-occurring issues is integrated into the overall care plan. Genetic counseling provides families with information about the underlying causes of microphthalmia, including genetic mutations or environmental exposures during pregnancy, helping them understand potential recurrence risk and supporting future family planning.
Surgical Interventions
Surgical interventions are necessary when non-surgical methods are insufficient, particularly for orbital volume and cosmetic symmetry. Orbital reconstruction procedures enlarge the bony eye socket, especially when conformers do not adequately stimulate growth. These surgeries may involve placing spherical implants or using tissue expansion techniques to gradually create more space within the orbit. The aim is to achieve better symmetry between the affected and unaffected sides of the face.
Eyelid surgeries correct abnormalities affecting vision and appearance. Conditions such as severe ptosis (drooping eyelid), phimosis (shortening of the eyelids), or telecanthus (increased distance between the inner corners of the eyes) can be addressed. Procedures like medial canthal reconstruction or frontalis suspension surgery improve eyelid position and function.
Corrective eye surgeries are considered if there is any functional eye tissue with visual potential. Cataract removal can be performed to clear the visual axis when a cataract obstructs vision. Strabismus correction, which addresses misaligned eyes, can also be undertaken to improve ocular alignment and potentially enhance binocular vision.
Enucleation, the surgical removal of the eye, is considered in severe cases where the microphthalmic eye is non-functional, painful, or poses a risk of complications like recurring inflammation or glaucoma. This procedure is followed by fitting an ocular prosthesis, which helps improve comfort and achieve a better cosmetic outcome. The decision for enucleation is made carefully, often when other treatments are not viable.
Long-Term Management
Long-term management of microphthalmia adapts as the individual grows. Regular follow-up appointments with a multidisciplinary team, including ophthalmologists, ocularists, and other specialists, are essential throughout childhood and into adulthood. These visits ensure the treatment plan remains appropriate for changing needs.
Adjustments and replacements of prosthetics or expanders are required as the child grows. Since facial bones and soft tissues develop rapidly, conformers are regularly exchanged for larger sizes to maintain pressure and promote socket expansion. Later, prosthetic eyes also need periodic replacement to account for growth and changes in facial shape, ensuring continued fit and cosmetic appearance.
Psychosocial support for patients and their families is an important aspect of long-term care. Living with a visible difference and potential visual impairment presents unique challenges, and support services help individuals cope and maintain emotional well-being. Support groups and counseling provide valuable resources and a sense of community. Adapting to visual impairment involves continuous learning and accessing appropriate educational and vocational support, including specialized strategies, assistive technology, and mobility training, to achieve independence and participate fully in society.