Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

• Published in: Ophthalmic genetics 2010-03, Vol.31 (1), p.12-17
• Main Authors: Turell, M., Morrison, S., Traboulsi, E.I.
• Format: Article
• Language: English
• Subjects: Adult; Arm Bones - abnormalities; Arm Bones - diagnostic imaging; Cone-rod dystrophy; Consanguinity; Diseases in Twins; Electroretinography; Female; Femur - abnormalities; Femur - diagnostic imaging; Humans; Infant, Newborn; Male; Osteochondrodysplasias - complications; Osteochondrodysplasias - diagnostic imaging; Photoreceptor Cells, Vertebrate - pathology; Radiography; Retinal Degeneration - complications; Retinal Degeneration - diagnosis; Retinoscopy; Retrospective Studies; Skeletal dysplasia; Spine - abnormalities; Spine - diagnostic imaging; Spondylometaphyseal dysplasia
• ISSN: 1381-6810; 1744-5094
• DOI: 10.3109/13816810903397812

Purpose: To report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy. Background: The spondylometaphyseal dysplasias are a rare and heterogeneous group of disorders characterized by skeletal abnormalities of the spine and the metaphyses of long bones. In rare instances, spondylometaphyseal dysplasia can occur concomitantly with ocular abnormalities including a retinal degeneration of the cone-rod dystrophy type. Methods: Retrospective review of affected twin females with serial radiographic imaging, comprehensive ophthalmologic examination, fundus photography, and electroretinography. Results: The major radiographic findings involved bony abnormalities of the spine, metaphyses of the long bones and a distinctive shape to the bony pelvis. Both twins had a fine nystagmus that was present by 10 months of age. Dilated ocular fundus examination revealed similar appearing bilateral, large, excavated, well-circumscribed oval areas of chorioretinal atrophy occupying the macula between the aracades. Electroretinography showed a significant reduction in the photopic responses and slight reduction in the scotopic component of the waveforms consistent with cone-rod dystrophy. Conclusions: Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare congenital disorder of unknown inheritance pattern and pathophysiolgy. The ocular manifestations appear to stabilize in early adolescence whereas the skeletal abnormalities are progressive with age.