---
title: Spondyloepiphyseal dysplasia congenita
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/spondyloepiphyseal-dysplasia-congenita/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Spondyloepiphyseal dysplasia congenita

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