Ectopia lentis et pupillae. A hypothesis revisited.
BACKGROUND
Ectopia lentis et pupillae (ELeP) is a rare congenital inherited disorder characterized by lenticular and pupillary ectopia. Recent speculation on its pathogenesis is based on clinical observation and includes a neuroectodermal defect or persistence of fetal vasculature. None of these reports included histopathology or imaging studies.


METHODS
Case report and literature review.


METHODS
The authors examined a 55-year-old woman with ELeP using 10-MHz and 50-MHz ultrasonography to demonstrate the structural abnormalities present. Five patients (eight eyes) who had undergone cataract extraction without lens implantation were also examined.


RESULTS
In the patient with ELeP, the right pupil was displaced inferiorly and the left temporally. An ultrasound scan at 10 MHz showed both lenses lying inferiorly in the vitreous. An ultrasound scan at 50 MHz allowed detailed examination of the anterior segment, including the iris and ciliary body, and showed two main features in each eye, including a lack of definition of ciliary processes, except in that quadrant toward which the pupil was displaced, and a membrane-like structure extending forward and attaching to the proximal pupil margin. The membrane passed over the tips of the ciliary processes to a more posterior origin.


CONCLUSIONS
The only histologic reports of this condition are from the beginning of this century in the German literature. Ultrasonography at 50 MHz allows high-resolution in vivo imaging of anterior structures that are not clinically visible. The authors' findings in this case of ELeP are sufficiently different from those of non-ELeP-related aphakia to suggest that they are not solely due to aphakia. Furthermore, the authors' findings are very similar to the only histologic reports suggesting that the pupillary and lenticular ectopia results from mechanical tethering of the pupil with zonular disruption. This hypothesis has not been discussed in the recent literature.
Byles
D B
DB
Oxford Eye Hospital, England.
Nischal
K K
KK
Cheng
H
H
D000869:Anterior Eye Segment / Q000000981:diagnostic imaging / Q000473:pathology; D002387:Cataract Extraction; D004479:Ectopia Lentis / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D015785:Eye Diseases, Hereditary / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D008022:Ligaments / Q000473:pathology; D008875:Middle Aged; D010684:Philosophy; D014463:Ultrasonography