Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.
John A. Moran Eye Center, University of Utah, Salt Lake City, Utah. Electronic address: marielle.young@hsc.utah.edu.
Marielle P
MP
Young
John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.
Briana L
BL
Sawyer
John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.
M Elizabeth
ME
Hartnett
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000217:Acyltransferases; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D004596:Electroretinography; D004948:Esotropia / Q000175:diagnosis; D005451:Fluorescein Angiography; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009030:Mosaicism; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D009898:Optic Disk / Q000002:abnormalities*; D016133:Polymerase Chain Reaction; D012160:Retina / Q000002:abnormalities*; D014792:Visual Acuity
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human