ECTOPIA LENTIS ET PUPILLAE - A HYPOTHESIS REVISITED

Background: Ectopia lentis et pupillae (ELeP) is a rare congenital inh erited disorder characterized by lenticular and pupillary ectopia, Rec ent speculation on its pathogenesis is based on clinical observation a nd includes a neuroectodermal defect or persistence of fetal vasculatu re. None of these reports included histopathology or imaging studies, Study Design: Case report and literature review. Intervention: The aut hors examined a 55-year-old woman with ELeP using 10-MHz and 50-MHz ul trasonography to demonstrate the structural abnormalities present. Fiv e patients (eight eyes) who had undergone cataract extraction without lens implantation were also examined. Results: In the patient with ELe P, the right pupil was displaced inferiorly and the left temporally, A n ultrasound scan at 10 MHz showed both lenses lying inferiorly in the vitreous. An ultrasound scan at 50 MHz allowed detailed examination o f the anterior segment, including the iris and ciliary body, and showe d two main features in each eye, including a lack of definition of cil iary processes, except in that quadrant toward which the pupil was dis placed, and a membrane- like structure extending forward and attaching to the proximal pupil margin. The membrane passed over the tips of th e ciliary processes to a more posterior origin, Conclusions: The only histologic reports of this condition are from the beginning of this ce ntury in the German literature. Ultrasonography at 50 MHz allows high- resolution in vivo imaging of anterior structures that are not clinica lly visible. The authors' findings in this case of ELeP are sufficient ly different from those of non-ELeP-related aphakia to suggest that th ey are not solely due to aphakia, Furthermore, the authors' findings a re very similar to the only histologic reports suggesting that the pup illary and lenticular ectopia results from mechanical tethering of the pupil with zonular disruption. This hypothesis has not been discussed in the recent literature.