Ocular findings in cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome).
OBJECTIVE
To report the ocular findings in cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome.


METHODS
Case report.


RESULTS
A five-month-old male infant presented with bilateral posterior polar cataract, microphthalmos, nystagmus, and marked non-glaucomatous optic nerve atrophy. Systemic abnormalities such as microcephaly, micrognathia, flexion contractures of the elbows and knees, hypotonic musculature, and failure to thrive, with pronounced statomotor retardation, led to the diagnosis of cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. Cataract surgery did not improve the poor visual performance.


CONCLUSIONS
Cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome) should be included in the differential diagnosis of bilateral microphthalmos, congenital cataract, nystagmus, and pronounced optic nerve atrophy, and cataract surgery does not markedly improve vision.
Jonas
J B
JB
Department of Ophthalmology, Eye Hospital, University Erlangen-Nürnberg, Germany. Jost.Jonas@augen.ma.uni-heidelberg.de
Mayer
U
U
Budde
W M
WM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D008850:Microphthalmos / Q000175:diagnosis*; D020417:Nystagmus, Congenital / Q000175:diagnosis*; D009896:Optic Atrophy / Q000175:diagnosis*; D013577:Syndrome