Ocular manifestations of Seckel syndrome

PURPOSE: To report ophthalmic findings in three siblings with Seckel syndrome. METHODS: Observational case report. Three siblings with Seckel syndrome were examined. RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.