Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for transmission electron microscopy. Patients were classified into three groups depending on goniodysgenesis severity, which was influenced by CYP1B1 enzymatic activity. The main histological changes observed in the outflow pathway of patients with PCG and mutations in CYP1B1 were: i) underdeveloped collector channels and the Schlemm's canal; ii) abnormal insertion of the ciliary muscle; iii) death of the trabecular endothelial cells. Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations.

Morphologic differences observed by scanning electron microscopy according to the reason for pseudophakic IOL explantation.

PURPOSE: To compare variations in surface morphology, as studied by scanning electron microscopy (SEM), of explanted intraocular lenses (IOLs) concerning the cause leading to the explantation surgery. METHODS: In this prospective multicenter study, explanted IOLs were analyzed by SEM and energy-dispersive X-ray spectroscopy. The IOLs were explanted in the centers of the research group from 2006 to 2012. The primary procedure was phacoemulsification in all cases. RESULTS: The study evaluated 40 IOLs. The main causes for explantation were IOL dislocation, refractive error, and IOL opacification. Those explanted due to dislocation demonstrated calcifications in 8 lenses (50%), salt precipitates in 6 cases (37.5%), and erythrocytes and fibrosis/fibroblasts in 2 cases (12.5%). In the refractive error cases, the SEM showed proteins in 5 cases (45.5%) and salt precipitates in 4 lenses (36.4%). In IOL opacification, the findings were calcifications in 2 of the 3 lenses (66.6%) and proteins in 2 lenses (66.6%). CONCLUSIONS: A marked variation in surface changes was observed by SEM. Findings did not correlate with cause for explantation. Scanning electron microscopy is a useful tool that provides exclusive information regarding the IOL biotolerance and its interactions with surrounding tissues.

Distribution and organization of the nerve fiber and ganglion cells of the human choroid.

Antibodies to the 68, 160 and 200 kD of the neurofilament triplets were used to study the distribution and organization of neuronal structures in the human choroid. Choroidal axons were observed in the suprachoroid and vascular laminae but absent from the choriocapillary layer. Most axons were situated in the suprachoroid. In this layer, there were band-like bundles. The two thickest band-like bundles could constitute the long ciliary nerve, while the rest could constitute short ciliary nerves. These bundles ran through the suprachoroid, branching out on the suprachoroid and the vascular laminae until they reached the ciliary body. In the submacular area of the suprachoroid, the branches of the band-like bundles were so intermingled that they looked like a meshwork. In the vascular layer, the large vessels and their primary branches were accompanied by paravascular axons. Some paravascular axons penetrated the medium-caliber vessel layer and in the submacular area interwove to form a network parallel to the arteriole walls. In addition, perivascular axons were revealed by antibodies to neuropeptides. Choroidal ganglion cells were more numerous in the central choroid, specifically in a circumferential area corresponding to the entrance of the short posterior ciliary arteries and their primary branches, and in the vicinity of the submacular area. These cells presented bipolar and multipolar morphology. The high concentration of innervation in the central human choroid could be necessary to maintain strict blood flow in this zone; thus if required, these neuron structures could induce early vasodilation reflexes at the entrance of the choroidal blood vessels to increase the blood flow.