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Spondylometaphyseal dysplasia with cone-rod dystrophy
M Turell1, S Morrison, E I Traboulsi
1Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Ophthalmic Genetics
|February 10, 2010
Summary
Spondylometaphyseal dysplasia with cone-rod dystrophy presents with skeletal abnormalities and vision loss. Ocular issues stabilize in adolescence, while bone problems worsen with age.
Area of Science:
- Ophthalmology
- Genetics
- Radiology
Background:
- Spondylometaphyseal dysplasia (SMD) is a rare skeletal disorder affecting the spine and long bone metaphyses.
- Cone-rod dystrophy (CRD) is a retinal degeneration that can co-occur with SMD.
Observation:
- This study details clinical and radiographic findings in twin sisters with SMD and CRD.
- Evaluations included serial radiography, ophthalmologic exams, fundus photography, and electroretinography.
Findings:
- Radiographic analysis revealed spinal, metaphyseal, and pelvic bone abnormalities.
- Ophthalmologic findings included nystagmus, macular chorioretinal atrophy, and electroretinography consistent with cone-rod dystrophy.
Implications:
- SMD with CRD is a rare congenital condition with an unknown inheritance pattern.
- Ocular manifestations appear to stabilize by early adolescence, contrasting with progressive skeletal abnormalities.
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