Axonal Transport an Coats’ Disease and Congenital Oculodentaldigital Syndrome - Abstract
Purpose: We report axonal transport block in the lamina cribrosa (LC) of a two-year-old male with Coats’ disease in his right eye (Case 1), enucleated as blind and painful after an acute onset angle
controls for the Coats’ case immunohistochemistry (IHC) and to report additional findings in this rare disorder.
Methods: We reviewed available history and performed histopathology on three globes including routine staining of paraffin-processed tissues and an IHC marker of orthograde axonal transport, APP-A4. Two eyes from a second 10-month-old infant with ODDS and normal IOPs served as controls for background staining with APP-A4.
Results: In addition to typical pathology for Coats’, the lamina cribrosa portion of the optic nerve from Case 1 demonstrated marked orthograde axonal transport block. Both eyes from Case 2 with ODDS had a history of congenital glaucoma treated medically before bilateral trabeculotomies at five months-age with normalization of IOPs. Descemet scrolls found OD are judged residual to goniotomy. Both globes from Case 2 demonstrated multiple anomalies previously reported in ODDS including micropthalmos, optic disc dysplasia OD, and persistent hyperplastic primary vitreous (PHPV) OU. Our case had also spontaneous retinal detachment OD prompting an exam under general anesthesia when, during induction, she expired with malignant tachycardia. Retinal ganglion cells (RCGs) labeled with APP-A4 OU, but optic nerve LC axons demonstrated only background accumulations of the IHC marker.
Conclusions: Orthograde axonal transport was interrupted in the LC of the Coats’ nerve due to inflammatory and neovascular angle closure reinforcing the importance of the LC as the site of initial optic nerve damage in glaucoma. The primary importance of the two ODDS globes for our report was as comparison controls for background APP-A4 staining in the Coats’ case. Our additional findings in the ODDS eyes suggest delayed spontaneous retinal detachment, and lens epithelial abnormalities are additional anomalies to add to the list of known malformations in this rare disorder. Case 2 also serves as a caution in ODDS regarding vulnerability to combinations of medications when general anesthesia is contemplated.