Shprintzen-Goldberg syndrome is a connective tissue disorder with craniosynostosis, marfanoid features, and cardiovascular anomalies. Eye findings reflect both skeletal and connective tissue changes.
Ocular manifestations
Vision can be affected in several ways.
- Hypertelorism, proptosis, and strabismus
- High myopia and risk of lens subluxation or retinal detachment
- Exposure keratopathy if lids do not close fully
- Mutations often in SKI gene within the TGF-beta pathway
Management
Care focuses on surveillance and prevention of complications.
- Regular eye examinations for refraction, lens stability, and retina
- Cardiac monitoring for aortic root dilation and valve issues
- Craniofacial and orthopaedic care as needed
- Genetic counselling and family screening
