Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
OBJECTIVE
To report four patients with aniridia, preserved visual function, and no detectable mutations in PAX6.


METHODS
Retrospective case series.


METHODS
The clinical records and molecular genetic findings of four patients from three clinical practices were reviewed retrospectively.


RESULTS
All four patients had anterior segment findings characteristic of aniridia with good vision, no nystagmus in three of four patients, and no mutations on PAX6. An optical coherence tomography study from one of the patients showed a very shallow foveal pit. At the latest examination, none of the patients demonstrated a Wilms tumor.


CONCLUSIONS
These four cases provide evidence for genetic heterogeneity in aniridia. In aniridic patients without a PAX6 mutation, vision seems to be relatively well preserved.
Traboulsi
Elias I
EI
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA. traboue@cff.org
Ellison
Jay
J
Sears
Jonathan
J
Maumenee
Irene H
IH
Avallone
John
J
Mohney
Brian G
BG
D015783:Aniridia / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins