Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome: A case report.

RATIONALE: Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that affects multiple organs. The report here concerns a patient with MSMDS, who is known so far as the youngest among all the reported patients. In addition to the typical manifestations, we observed previously unreported ocular abnormalities, including persistent anterior tunica vasculosa lentis (TVL) and early-onset retinal arteriolar tortuosity, by the fluorescein angiography (FA). PATIENT CONCERNS: The patient was admitted to the neonatal intensive care unit immediately after birth for a diagnosis of urinary system dysplasia during fetal life. After a thorough examination, the patient was found with patent ductus arteriosus, pulmonary hypertension, cerebrovascular disease, hypotonic bladder, intestinal malrotation, and congenital mydriasis. The FA of the eyes undertaken in her 6-week demonstrated perfused vasculature in the persistent anterior TVL and prominent retinal arteriolar tortuosity. The whole exome sequencing revealed a de novo heterozygous ACTA2 gene missense mutation p.R179H. DIAGNOSES: The patient was diagnosed with MSMDS. INTERVENTIONS: Follow-up observation. OUTCOMES: At the 3-month follow-up, no change of the ocular disease was observed. LESSONS: The persistent anterior TVL in this case implies that ACTA2 p.R179H mutation affects not only the smooth muscle cells but also the pericytes, and further affects the TVL regression. The prominent retinal arteriolar tortuosity in this 6-week-old infant indicates that the retinal arteriolar tortuosity can present early in MSMDS.

Proteomic analysis of aqueous humor from cataract patients with retinitis pigmentosa.

A postcataract surgery complication in patients with retinitis pigmentosa (RP) is lens capsular contraction. To identify potential proteins contributing to this phenomenon, high-performance liquid chromatography/mass spectrometry-based proteomic analysis was conducted with aqueous humor samples collected from 11 patients who underwent cataract surgeries, with four patients diagnosed as RP and cataract (RP group) and the other seven with only senile cataract group. The upregulated proteins in the RP group were enriched in wound response, while downregulated proteins were enriched in cell adhesion and lens crystallins. Receptors of two dramatically upregulated proteins tenascin-C (TNC) and serotransferrin were found expressed in human lens epithelial cells (HLEs). TNC can promote primary HLEs proliferation and cell line HLE-B3 migration. This study indicates aqueous humor proteomic analysis serves as an effective way to unveil the pathogenesis of RP complications. TNC is a potential target of stimulating HLEs proliferation in RP concomitant cataract patients that worth further research.

The Function of Thioredoxin-Binding Protein-2 (TBP-2) in Different Diseases.

Thioredoxin-binding protein-2 (TBP-2) has an important role in the redox system, but it plays a different role in many different diseases (e.g., various cancers, diabetes mellitus (DM), cardiovascular disease, and cataracts) by influencing cell proliferation, differentiation, apoptosis, autophagy, and metabolism. Distinct transcription factors (TFs) stimulated by different factors combine with binding sites or proteins to upregulate or downregulate TBP-2 expression, in order to respond to the change in the internal environment. Most research disclosed that the main function of TBP-2 is associating with thioredoxin (Trx) to inhibit the antioxidant capacity of Trx. Furthermore, the TBP-2 located in tissues, whether normal or abnormal, has the ability to cause the dysfunctioning of cells and even death through different pathways, such as shortening the cell cycle and inducing apoptosis or autophagy. Through these studies, we found that TBP-2 promoted the development of diseases which are involved in inflammatory and oxidative damage. To a certain extent, we believe that there is some hidden connection between the biological functions which TBP-2 participates in and some distinct diseases. This review presents only a summary of the roles that TBP-2 plays in cancer, DM, cataracts, and so on, as well as its universal mechanisms. Further investigations are needed for the cell signaling pathways of the effects caused by TBP-2. A greater understanding of the mechanisms of TBP-2 could produce potential new targets for the treatment of diseases, including cancer and diabetes, cardiovascular disease, and cataracts.

Morphologic Patterns Formed by the Anomalous Fibers Occurring Along the Anterior Capsule of the Crystalline Lens in People With the Long Anterior Zonule Trait.

People with the long anterior zonule (LAZ) trait, which may have prevalence near 2%, have zonular fibers that extend more central than usual along the anterior capsule of the crystalline lens. The anomalous fibers can be observed in vivo with clinical slit lamp biomicroscopy after pharmacologic pupil dilation, and although minimally studied, the LAZ trait may have importance to glaucoma, retinal degeneration, and cataract surgery. To further characterize LAZ morphology, a custom computer program was used to trace LAZ fibers seen on retro-illumination photos acquired during previous study at an academic, urban eye care facility in Chicago, IL. There were 59 African-Americans (54 female; median age = 70 years, 53-91 years) included in the analysis. After initial review of the zonule tracings, we identified three basic LAZ patterns. We called one pattern (47% of right eyes) a "non-segmental LAZ pattern," which was predominated by fibers that could be visually traced to the dilated pupil border where they became obscured by the iris. Another pattern (35% of right eyes), the "segmental LAZ pattern," was predominated by fibers that appeared to terminate abruptly without detectable extension to the pupil border. The third pattern (18% of right eyes), the "mixed LAZ pattern," had a more equivalent mixture of the other two fiber morphologies. Compared to the "non-segmental" group, the "segmental" LAZ eyes had smaller central zonule-free zones (P < 0.0001), and they tended to exhibit fewer LAZ fibers (P = 0.07). These data improve understanding of LAZ clinical anatomy and may be helpful to future investigation. Anat Rec, 300:1336-1347, 2017. © 2017 Wiley Periodicals, Inc.

The Significance of the Discordant Occurrence of Lens Tumors in Humans versus Other Species.

PURPOSE: The purpose of this study was to determine in which species and under what conditions lens tumors occur. DESIGN: A review of databases of available human and veterinary ocular pathologic material and the previously reported literature. PARTICIPANTS: Approximately 18 000 patients who had ocular surgical specimens submitted and studied at the University of Wisconsin School of Medicine and Public Health between 1920 and 2014 and 45 000 ocular veterinary cases from the Comparative Ocular Pathology Laboratory of Wisconsin between 1983 and 2014. METHODS: Material in 2 major archived collections at the University of Wisconsin medical and veterinary schools were studied for occurrence of lens tumors. Tumor was defined as a new growth of tissue characterized by progressive, uncontrolled proliferation of cells. In addition, cases presented at 3 major eye pathologic societies (Verhoeff-Zimmerman Ophthalmic Pathology Society, Eastern Ophthalmic Pathology Society, and The Armed Forces Institute of Pathology Ophthalmic Alumni Society) from 1975 through 2014 were reviewed. Finally, a careful search of the literature was carried out. Approval from the institutional review board to carry out this study was obtained. MAIN OUTCOME MEASURES: The presence of tumors of the lens. RESULTS: The database search and literature review failed to find an example of a lens tumor in humans. In contrast, examples of naturally occurring lens tumors were found in cats, dogs, rabbits, and birds. In the veterinary school database, 4.5% of feline intraocular and adnexal neoplasms (234/5153) were designated as feline ocular posttraumatic sarcoma, a tumor previously demonstrated to be of lens epithelial origin. Similar tumors were seen in rabbit eyes, a bird, and in a dog. All 4 species with lens tumors had a history of either ocular trauma or protracted uveitis. The literature search also revealed cases where lens tumors were induced in zebrafish, rainbow trout, hamsters, and mice by carcinogenic agents (methylcholanthrene, thioacetamide), oncogenic viruses (SV40, HPV-16), and genetic manipulation. CONCLUSIONS: Our results suggest that lens tumors do not occur in humans. In contrast, after lens capsule rupture, a lens tumor can occur in other species. We hypothesize that a genetic mechanism exists that prevents lens tumors in humans.

Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction.

A 29-year-old woman presented with symptoms of gradual, progressive, painless diminution of vision in both eyes for past 8-10 years. On examination, uncorrected visual acuity was 20/60 in the right eye and 20/126 in the left eye. Anterior segment examination was essentially normal except for a conical protrusion in the pupillary axis of the anterior lens capsule with a clear underlying lens. During surgery, central protruded fragile lens capsule was meticulously handled to create well-centered continuous curvilinear capsulorhexis by using paediatric rhexis forceps. Histopathology of excised capsule showed markedly thinned lens capsule with normal epithelium. Electron microscopy of the anterior lens capsule showed multiple linear and irregular zones of dehiscence. Few of these had fibrillar, irregular electron-dense material and vacuoles; and adjacent cells were irregular suggestive of Alport syndrome. Postoperative course was uneventful and visual acuity improved to 20/20 unaided. Clear lens extraction is an effective means of rehabilitating visually symptomatic anterior lenticonus of Alport syndrome.

Intraocular sarcoma associated with a rupture lens in a rabbit (Oryctolagus cuniculus).

This case report describes the clinical manifestations and ocular pathology of an intraocular sarcoma in a spayed female 7-year-old rabbit that developed clinical signs consistent with phacoclastic uveitis at 6 months of age, which was left untreated for most of the next 6 years. Ophthalmologic examination confirmed pupillary occlusion, aqueous flare, fibrin, and lens debris within the anterior chamber of the right eye. The right eye was blind and phthisical. The tentative clinical diagnosis was chronic phacoclastic uveitis, and a routine transconjunctival enucleation of the right eye was completed. The globe was formalin-fixed and submitted for histologic examination. Light microscopic examination revealed a ruptured cataractous lens, uveitis, retinal detachment, and an intraocular sarcoma centered around the lens. Immunohistochemical (IHC) staining was positive for smooth muscle actin and vimentin and negative for Desmin and cytokeratin intermediate filaments.

Histopathologic evaluation of the anterior segment of eyes enucleated due to glaucoma secondary to primary lens displacement in 13 canine globes.

PURPOSE To describe histologic anterior segment changes in eyes affected with primary lens displacement (PLD) and secondary glaucoma. METHODS Histologic sections stained with H&E from canine eyes enucleated because of PLD and secondary glaucoma were examined. RESULTS Thirteen eyes from 12 patients were evaluated. Four dogs were castrated males and eight spayed females. Median age was 8 years of age (range 3-13). Breeds included seven terriers and five other breeds. All eyes examined demonstrated varying degrees of inflammation involving the iris and cleft. Mononuclear and melanophagic infiltration of the cleft was found in all specimens. Four globes also showed polymorphonuclear infiltrate. Pre-iridal fibrovascular membranes were clearly identified in 10 of 13 eyes. Total inflammatory score was significantly greater in all globes examined compared with an age-matched group of normal dogs. The posterior pigmented iris epithelium demonstrated a consistent pattern of hyperplasia and/or hypertrophy and cystic degeneration, more prominent in the more central regions. In some cases, hyperplasia was of greatest severity in the mid-iris and associated with thinning or flattening of the pupillary region. CONCLUSIONS These results suggest that lens instability may be associated with chronic inflammation and secondary glaucoma. Mechanical irritation from an unstable lens may result in hypertrophy and/or hyperplasia of the posterior pigmented iris epithelium and subsequent cellular exfoliation and release of melanin. An inflammatory reaction directly or indirectly related to melanin release may obstruct the outflow pathways ultimately leading to glaucoma and loss of vision. Use of topical steroids may be warranted in dogs with PLD.

Endothelial keratoplasty with pars plana air-fluid exchange in the absence of an intact lens-iris diaphragm.

The author reports the use of pars plana air-fluid exchange in promoting adhesion of the donor endothelial graft to the host cornea during Descemet's membrane stripping with endothelial keratoplasty in the absence of an intact lens-iris diaphragm. A three-port pars plana 25-gauge core vitrectomy is performed, followed by the insertion of the endothelial graft into the anterior chamber with a glide. After the limbal incision and the paracentesis site are sutured, the air-fluid exchange is done from the vitreous cavity toward the anterior chamber until the eye is completely filled with air. The air infusion pressure is maintained at 30 mm Hg for 10 minutes. The endothelial graft is centered with a roller. The pars plana cannulas are removed, and the scleral incisions seal spontaneously. This technique ensures that the anterior chamber is completely filled with air at the end of case and provides fine control of the intraocular pressure throughout the surgery.

Lens-preserving excision of congenital hyperplastic pupillary membranes with clinicopathological correlation.

Persistent pupillary membrane is a congenital, incomplete involution of the tunica vasculosa lentis. These membranes are usually tenacious, with fine fibrils attached to the iris collarette on one side, with the other end either free floating or attached to the lens or iris focally on the opposite side. This condition is thought to represent ectopic iris tissue on the lens with abnormal iris stroma caused by aberrant involutional changes in the primitive embryological vascular system of anterior segment. Dense and thick membranes, particularly within the pupil, may result in deprivation amblyopia. We report clinical and histopathological findings in a case of a 12-year-old boy with bilateral extensive hyperplastic persistent pupillary membrane that was surgically removed without injury to the crystalline lens.

Copper deposition in a variant of multiple myeloma: pathologic changes in the cornea and the lens capsule.

PURPOSE: To report the pathologic changes in the cornea and the lens capsule resulting from copper deposition in a variant of multiple myeloma. METHODS: Case report. RESULTS: Light microscopy of the cornea revealed endothelial cell attenuation with diffuse copper deposition in the central Descemet membrane, which showed thinning, whereas copper banding was seen in the midperipheral and peripheral cornea where the Descemet membrane was normal in thickness. Copper deposition was confirmed by x-ray microanalysis. The anterior lens capsule showed subepithelial copper deposits. Thickening, multilayering, and splitting of the lens capsule were also noted. CONCLUSIONS: We report the pattern of deposition of copper in the Descemet membrane of the cornea and the anterior lens capsule in multiple myeloma, associated with hypercupremia. Descemet membrane thinning and regional differences in copper deposition were noted. Also, thickening and splitting of the lens capsule are a novel observation.

Rapid capsular phimosis in retinitis pigmentosa.

This case report retrospectively reviews the outcome of a 43-year-old man with retinitis pigmentosa who suffered rapid anterior capsular phimosis in each eye within 3 weeks following uncomplicated phacoemulsification with continuous curvilinear capsulorrhexis and single-piece acrylic intraocular lens (IOL) implantation. Anterior YAG capsulotomy was successfully performed in both eyes. It has been previously documented in the literature that capsular phimosis is more common in patients with retinitis pigmentosa. However, in the cases that were reviewed, capsular contracture progressed much less rapidly than in this patient. It is proposed that zonular dehiscence or increased lens epithelial cell fibrosis accompanying retinitis pigmentosa may be responsible for phimosis following phacoemulsification; in this case, the single-piece IOL may have offered less resistance to capsular contraction. Using a three-piece IOL, capsular tension ring, or making radial relaxing incisions in the anterior lens capsule may be useful approaches to minimize the aforementioned complications in patients with retinitis pigmentosa and cataracts.

Progression of a unilateral posterior lentiglobus associated with a persistent fetal vasculature stalk.

An 8-month-old boy was found to have unilateral persistent fetal vasculature (PFV) and a small visually insignificant lens opacity. No changes were noted in the appearance of the eye on examinations up to age 3 years. At the age of 4 years, a posterior lentiglobus requiring surgical intervention developed. The thinned and bulging posterior capsule ruptured at surgery. PFV, when treated conservatively, has not been reported to lead to progressive lentiglobus. This case documents the rare concurrence of PFV and lentiglobus.

Adapting biodegradable oligo(poly(ethylene glycol) fumarate) hydrogels for pigment epithelial cell encapsulation and lens regeneration.

This study investigated the encapsulation of newt iris pigment epithelial cells (PECs), which have the ability to regenerate a lens by trans-differentiation in vivo, within a biodegradable hydrogel of oligo(poly(ethylene glycol) fumarate) crosslinked with poly(ethylene glycol)-diacrylate. Hydrogel beads of initial diameter of 1 mm were fabricated by a molding technique. The swelling ratio and degradation rate of the hydrogel beads decreased with increasing crosslinking ratios. Confocal microscopy confirmed the cytocompatibility of crosslinking hydrogel formulations as evidenced by the viability of an encapsulated model cell line within a crosslinked hydrogel bead. Hydrogel beads encapsulating iris PECs were also implanted into lentectomized newts in vivo; histological evaluation of explants after 30 days revealed a regenerated lens, thus demonstrating that the presence of degrading hydrogel did not adversely affect lens regeneration. The results of this study suggest the potential of a method for lens regeneration involving oligo(poly(ethylene glycol) fumarate) hydrogels for iris PEC encapsulation and transplantation.