PURPOSE: To report ophthalmic findings in three siblings with Seckel syndro
me.
METHODS: Observational case report. Three siblings with Seckel syndrome wer
e examined.
RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and ast
igmatism 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.