Goldenhar syndrome is a rare condition characterized by abnormal development, primarily affecting facial structures like the jaw, cheeks, and ears. While it can also involve the spine and other body organs, this article focuses on how the syndrome manifests in the eyes and diagnosis and treatment. Also known as oculo-auriculo-vertebral spectrum (OAVS) or facio-auriculo-vertebral dysplasia.
How Goldenhar Syndrome Affects the Eyes
Goldenhar syndrome can lead to various ocular anomalies affecting vision and eye health. One common manifestation is epibulbar dermoids, which are benign growths as white-yellow or pinkish masses on the eye’s surface, often near the limbus. These growths can cause irritation, watering, discharge, and even lead to corneal issues if they rub against the eye. Epibulbar dermoids are observed in about 60% of cases and can occur on one or both eyes.
Another frequent ocular anomaly is coloboma, a gap or defect that can affect different parts of the eye, including the iris, retina, choroid, or optic nerve. Coloboma of the eyelids, especially the upper eyelid, is also observed. Microphthalmia, a condition where the eyeballs are abnormally small, is common, and in severe instances, the eye may appear absent, though some tissue is still present. Anophthalmia, the complete absence of an eyeball, can also occur in children with Goldenhar syndrome.
Misalignment of the eyes, known as strabismus, is another potential issue that can interfere with proper vision development. Ptosis, or drooping of the eyelid, can occur, potentially obstructing vision if severe enough.
Identifying Eye Problems
Diagnosing ocular involvement in Goldenhar syndrome begins shortly after birth or when concerns about a child’s eyes arise. A thorough ophthalmological examination is essential to identify the specific anomalies present. This examination often includes a slit-lamp examination to view the front structures of the eye, and fundoscopy to inspect the retina and optic nerve at the back of the eye.
Vision testing, adapted for age and developmental stage, is also performed to assess visual acuity and any impairments. In some cases, imaging techniques such as orbital CT scans or MRI may be used to further assess the underlying structures of the eye and surrounding bone. The diagnosis of Goldenhar syndrome is primarily clinical, based on physical appearance and examination findings. Additional tests help understand the full extent of ocular involvement. A multidisciplinary team, including ophthalmologists, evaluates and manages children with this syndrome.
Treating Eye Conditions
Treatment for eye conditions associated with Goldenhar syndrome is individualized and aims to preserve vision, improve eye function, and address cosmetic concerns. Surgical interventions are often necessary for several conditions. For instance, epibulbar dermoids may be surgically removed, especially if they cause irritation, affect vision, or are cosmetically bothersome. Early excision of limbal dermoids can help prevent amblyopia and strabismus in children.
Correction of strabismus may involve surgery to realign the eye muscles, which can improve binocular vision and reduce the risk of amblyopia (lazy eye). Eyelid surgery may be performed for ptosis to lift the drooping eyelid and ensure it does not obstruct the visual axis. In cases of eyelid coloboma, surgical reconstruction often requires urgent intervention to protect the cornea and preserve visual function.
Optical management, such as prescribing glasses or contact lenses, can correct refractive errors like nearsightedness or farsightedness. Supportive therapies, like patching the stronger eye to encourage the weaker eye to develop better vision in cases of amblyopia, are also used. Artificial tears might be used for dry eyes if tear production is affected. These treatments aim to optimize visual outcomes and support the child’s ocular health and development.
Understanding the Origins
The exact cause of Goldenhar syndrome is often unknown, and most cases occur sporadically, without a clear family history. It is thought to result from an interruption in blood supply or a developmental issue during early embryonic development, affecting the first and second branchial arches. These arches contribute to the development of the face, ears, and neck.
While the majority of cases are not inherited, rare instances of familial Goldenhar syndrome have been reported, sometimes following an autosomal dominant pattern of inheritance. In these rare cases, a parent with the syndrome has a 50% chance of passing it to their child. However, for most individuals, the chance of having a child with the disorder is very low. Environmental factors, such as maternal diabetes, certain medications during pregnancy, or bleeding during the second trimester, have been suggested as possible risk factors, though none are definitively proven.