Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
OBJECTIVE
To report a family with unilateral isolated microphthalmia showing an autosomal recessive pattern of inheritance.


METHODS
We report a family in which three out of four children, one male and monozygotic female twins, were born with unilateral isolated microphthalmia to healthy consanguineous parents. One twin additionally had a horseshoe kidney. Rare cases of familial isolated microphthalmia/anophthalmia have been previously described. This is the first report of a family with autosomal recessive isolated microphthalmia occurring unilaterally in all affected individuals. It remains unknown how this inherited genetic disease results in unilateral manifestation.


CONCLUSIONS
Mirror imaging of this condition in the monozygotic twins may help elucidate the underlying mechanism. The constellation of features in this family may contribute to solve remaining questions of research into symmetry and asymmetry.
Fleckenstein
Monika
M
The Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA. mfleckenstein@web.de
Maumenee
Irene H
IH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics*