Spondyloepiphyseal dysplasia congenita is a genetic skeletal dysplasia causing short trunk dwarfism and joint problems. Several ocular issues can occur alongside musculoskeletal changes.
Ocular associations
Eye problems vary but may be significant.
- High myopia and risk of retinal detachment
- Strabismus, nystagmus, and occasional cataract
- Possible optic nerve abnormalities in some patients
- COL2A1 gene mutations underlie the condition
Management
Care is multidisciplinary and lifelong.
- Regular ophthalmic review for refraction, retinal status, and alignment
- Orthopaedic and physiotherapy input for spine and joint issues
- Genetic counselling for affected families
- Prompt treatment of retinal tears or detachments to protect vision
