Ophthalmic findings in an infant with phosphomannomutase deficiency.
BACKGROUND
We present the ocular features including full-field electroretinography (ff-ERG) and spectral domain optical coherence tomography (SD-OCT) in a 14-month-old infant with congenital disorder of glycosylation type 1a (PMM2-CDG).


RESULTS
An infant with failure to thrive, bilateral neurosensory hearing loss, cerebellar hypoplasia, and pericardial effusions was referred to ophthalmic genetics for evaluation. The patient had fix and follow vision, an intermittent esotropia, moderate myopia, a hypo pigmented macula, and mild attenuation of the retinal vasculature. Electroretinography showed severe reduction in both rod and cone-dependent responses with a negative waveform pattern. Handheld SD-OCT revealed severe attenuation of the outer retina throughout the macula, but with preservation of outer retinal structures in the fovea.


CONCLUSIONS
PMM2-CDG is a rare congenital disorder for which both ff-ERG and SD-OCT were useful in demonstrating early changes in retinal architecture and function.
Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.
Wyatt B
WB
Messenger
Paul
P
Yang
Mark E
ME
Pennesi
D002531:Cerebellum / Q000002:abnormalities; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D002658:Developmental Disabilities / Q000175:diagnosis; D004596:Electroretinography; D004948:Esotropia / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D009421:Nervous System Malformations / Q000175:diagnosis; D009759:Nystagmus, Pathologic / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D041623:Tomography, Optical Coherence
D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human