Heritable unilateral clinical anophthalmia.
We examined a newborn child with unilateral right-sided clinical anophthalmos born to a mother with unilateral left-sided anophthalmos. Although rare, isolated nonsyndromic heritable unilateral anophthalmia and microphthalmia have been reported in the literature. We briefly review the genetics of such anomalies and discuss the importance of a full clinical genetics evaluation. Treatment of this patient's anophthalmic socket consists of progressive conformer expansion to be followed by placement of a self-inflating polymer expander.
Griepentrog
Gregory J
GJ
Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin 53792, USA.
Lucarelli
Mark J
MJ
D000328:Adult; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014057:Tomography, X-Ray Computed