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Corneal opacities in spondyloepiphyseal dysplasia tarda
J A Wells1, N P Ellerine, P M Fernhoff
1Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia.
Insights
Spondyloepiphyseal dysplasia tarda (SEDT) is a skeletal disorder. This report details a unique case of peripheral corneal opacities associated with SEDT, highlighting a potential, though unconfirmed, X-linked inheritance pattern.
Area of Science:
- Genetics
- Ophthalmology
- Orthopedics
Background:
- Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited skeletal disorder affecting the spine and long bone epiphyses, typically presenting in childhood.
- SEDT leads to disproportionate short stature and degenerative spine and hip conditions.
- Ocular manifestations are not widely recognized in SEDT.
Abstract:
Spondyloepiphyseal dysplasia tarda is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to disproportionate short stature and degenerative spine and hip disease. Associated ocular disease is not commonly recognized. We report a patient with spondyloepiphyseal dysplasia tarda and a unique pattern of corneal opacities. Bilateral, irregularly shaped, nodular, deeply posterior opacities confined to the peripheral cornea were noted in this patient. A central stromal granularity was also seen. Minimal visual loss was associated with these findings. An X-linked inheritance pattern is presumed but could not be confirmed.