The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.

BACKGROUND: This study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible pathogenesis. METHODS: Five individuals from a three-generation family underwent general ophthalmic examination, multi-imaging examinations and visual electrophysiology examinations when possible. Genetic characterization was carried out by target region sequencing and high-throughput sequencing in affected patients. RESULTS: Despite severe fundus changes, patients had relatively good visual acuity. Genetic analysis showed that affected patients had PRDM13 gene duplication and heterozygous mutations of the ABCA4 gene. Optical coherence tomography (OCT) showed an abnormal retinal pigment epithelium (RPE) layer in patients with grade 2 lesions, while the neurosensory retina was relatively normal. In grade 3 patients, RPE and choroid atrophy were greater than that of the neurosensory retina, showing concentric atrophy. CONCLUSIONS: RPE and choroidal atrophy were found to play an important role in the development of macular caldera.

Indications and effects of biological agents in the treatment of noninfectious uveitis.

Noninfectious uveitis is a common blinding eye disease, and an autoimmune response is involved in its pathogenesis. Biological agents have gradually been introduced into the treatment of noninfectious uveitis. The authors reviewed the clinical application and side effects of different biological agents on noninfectious uveitis. Biological agents that target TNF-α are widely used in the clinic. Other biological agents, such as IL-6- and IL-1-neutralizing antibodies, are used in patients who do not respond to TNF inhibitors. The efficacy of IL-17 neutralizing antibodies in noninfectious uveitis is controversial. Biological agents targeting T cells and signaling pathways provide new drug options for treatment of noninfectious uveitis. However, it cannot be ignored that these biological agents have side effects, such as increasing risk of infection.

For patients with noninfectious uveitis, if uveitis is severe and vision-threatening or if glucocorticoids and immunosuppressants are tried but do not control uveitis or cannot be used for medical reasons, biological agents offer a new choice. Many biologics are currently on the market for autoimmune diseases; some are approved for the treatment of noninfectious uveitis, and others are in clinical trials. TNF-α inhibitors are widely used in the clinic and effective in the treatment of noninfectious intermediate, posterior and pan uveitis associated with ankylosing spondylitis, Behcet's disease and juvenile idiopathic arthritis. All of these biological agents have side effects, such as increasing risk of infection or malignant tumors. Development of side effects should be closely monitored.

Clinical Features of Acute Retinal Necrosis with Optic Neuropathy and Central Retinal Artery Occlusion as Initial Manifestations.

Acute retinal necrosis normally occurs at the periphery retina and gradually merges and progresses to the posterior pole. Optic neuropathy and central retinal artery occlusion as initial manifestation is very rare. We report the case of a patient with optic neuropathy and central retinal vessels as the first manifestations of acute retinal necrosis. Antiviral drugs, corticosteroids, and drugs that improve blood circulation were given. The necrotic retina and swollen optic disc disappeared gradually. However, the final vision of this eye declined to no light perception. From the first case report in 2001 to now, a total of 8 sporadic cases have been reported. The average onset age is 60.85±14.05 years. Most of them had no history of virus infection. Cardiovascular disease history maybe a risk factor. Acute retinal necrosis should be considered in patients with retinal vascular occlusion accompanied by granulomatous anterior uveitis. Further research is needed to determine whether treatments in addition to antiviral and corticosteroid therapy are needed.

Immunopathogenesis of Behcet's Disease.

Behcet's disease (BD) is a chronic systemic inflammatory vasculitis of unknown etiology characterized by recurrent episodes of oral aphthous ulcers, genital ulcers, skin lesions, ocular lesions, and other manifestations. Although the pathogenesis of BD is unclear, some studies have shown that immunological aberrations play an important role in the development and progression of BD. Infection-related trigger factors, including antigens and autoantigens, are believed to mediate the development of BD in patients with a genetic predisposition and subsequently activate the innate and adaptive immune systems, resulting in the production of numerous cytokines and chemokines to combat the infection-related factors. The study of the immunological mechanism of BD paves the way for the development of innovative therapies. Recently, novel biotherapy approaches, including interferon-α (IFN-α), tumor necrosis factor-α (TNF-α) antagonists, and other agents that target interleukins and their receptors, have shown promising results in the treatment of patients with refractory BD and have improved the prognosis of BD. In this review, we provide the current concepts of BD immunopathogenesis.

The follow-up observation on the therapeutic effect of photodynamic therapy for the juxtapapillary retinal capillary hemangioma: a case report.

BACKGROUND: The present study reported a case of juxtapapillary retinal capillary hemangioma (JRCH) that was successfully treated by two sessions of full-fluence photodynamic treatment (PDT) with good visual outcome. CASE PRESENTATION: A 19-year-old male patient presented progressive deterioration of the vision of right eye due to the presence of exudative macular detachment associated with JRCH. The best-corrected visual acuity (BCVA) had decreased from 1.0 to 0.02. The JRCH was treated with two sessions of full-fluence PDT at an interval of 3 months. After the first PDT, the subfoveal fluid was reduced, albeit not completely disappeared. After the second PDT, the subfoveal fluid was successfully displaced. At the 1.5-year follow-up examination, no subfoveal fluid was observed at the macula, and VA improved from a pretherapy level of 0.02-0.8 at 18 months post-treatment. CONCLUSION: Resolution of the exudative macular detachment, reduction in papillomacular area fluid, and reduction in the size of the JRCH were observed during the follow-up period. No severe adverse events were observed. Therefore, PDT is potential candidate treatment for relieving exudative macular detachment and recovering VA and reduction in the size of the JRCH.

NPPB modulates apoptosis, proliferation, migration and extracellular matrix synthesis of conjunctival fibroblasts by inhibiting PI3K/AKT signaling.

When treating glaucoma, excessive scar tissue reactions reduce the postoperative survival rate of the filtering bleb. Accumulating evidence has demonstrated that the proliferation, migration and extracellular matrix (ECM) synthesis of fibroblasts are important molecular mechanisms underlying scar formation. Recent evidence has demonstrated that chloride channels play an important role in controlling cell proliferation, apoptosis, migration and the cell cycle process in several cell types, but the effects of chloride channels on conjunctival fibroblasts have not be studied. The aim of the present study was to investigate the effects of the chloride channel blocker 5-nitro-2-(3-phenylpropylamino) benzoic acid (NPPB) on cell proliferation, apoptosis, migration, cell cycle progression and ECM synthesis in human conjunctival fibroblasts (HConFs), and to further investigate the mechanism of resistance to scar formation following glaucoma filtration surgery. HConFs were exposed to NPPB or lubiprostone. Cell proliferation and viability was evaluated using the Cell Counting Kit-8. Cell migration was measured using Transwell migration and scratch­wound assays. Flow cytometry was used to study apoptosis and cell cycle progression. Quantitative polymerase chain reaction and western blot analyses were performed to determine mRNA and protein expression levels, respectively. Following NPPB treatment, HConFs exhibited reduced proliferation and migration, along with increased apoptosis. NPPB also inhibited cell cycle progression by arresting cells in the G0̸G1 phase and reducing collagen I and fibronectin expression, as well as the phosphorylation of phosphoinositide 3-kinase (PI3K) and protein kinase B (AKT). However, lubiprostone treatment exerted the opposite effects on HConFs. Therefore, NPPB treatment inhibited proliferation, migration, cell cycle progression and synthesis of the ECM, while promoting apoptosis in HConFs, by inhibiting the PI3K̸AKT signaling pathway.

Clinical manifestations of syphilitic chorioretinitis: a retrospective study.

BACKGROUND: Syphilitic chorioretinitis can produce severe vision loss. However, the clinical manifestations of syphilitic chorioretinitis are still unclear, particularly during different stages. Herein, we will present our diagnostic technique for syphilitic chorioretinitis. METHODS: This retrospective study recruited 109 cases; we performed a clinical evaluation including case history, serology analysis, fundus photography, fluorescein fundus angiography with or without indocyanine green angiography, auto-fluorescence, and optical coherence tomography. RESULTS: 109 were diagnosed with acute syphilitic posterior placoid chorioretinitis by fundus photograph that revealed filthy, yellowish-white lesions. For autofluorescence, during early-stage syphilitic chorioretinitis, hyperfluorescence could be observed. During the convalescence stage, the fluorescence became hypofluorescence or disappeared. Fluorescein fundus angiography indicated early-stage transmitted fluorescence or hypofluorescence. During the venous stage, the lesion area had fluorescent leakage, mostly accompanied by retinal vasculitis. During the late stage, speckle staining was observed with optic disc fluorescence. Hypofluorescence or undistinguishable fluorescence was seen at an early stage with indocyanine green angiography. At an advanced stage, the lesion had obvious hypofluorescence. Optical coherence tomography indicated various inner segment/outer segment damage, accompanied by retinal pigment epithelium impairment. The inner segment/outer segment alteration could be lessened with treatment. CONCLUSIONS: The clinical manifestations of syphilitic chorioretinitis include impaired vision, shadow blocking, or photopsia of one or both eyes. Fundus photography, fluorescein fundus angiography with or without indocyanine green angiography, autofluorescence, and optical coherence tomography could be useful accessory examinations. Autofluorescence and optical coherence tomography could be the main examinations for monitoring disease progression.