Spondylometaphyseal dysplasia with cone-rod dystrophy.
OBJECTIVE
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.
Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
M
M
Turell
S
S
Morrison
E I
EI
Traboulsi
D000328:Adult; D050280:Arm Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D004200:Diseases in Twins; D004596:Electroretinography; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D011859:Radiography; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis; D042262:Retinoscopy; D012189:Retrospective Studies; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging