Ocular manifestations of Seckel syndrome.
OBJECTIVE
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.


CONCLUSIONS
Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.
Guirgis
M F
MF
Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St., Miami, FL 33136, USA.
Lam
B L
BL
Howard
C W
CW
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001251:Astigmatism / Q000175:diagnosis*; D002648:Child; D004392:Dwarfism / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008831:Microcephaly / Q000175:diagnosis*; D009216:Myopia / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome