Posner-Schlossman Syndrome European Study Group: study protocol and baseline patients characteristics of a multicentre study.

BACKGROUND: The aim of the Posner-Schlossman Syndrome European Study Group (PSS-ESG) is to acquire a comprehensive dataset of European patients with PSS. Here, we present the first report on the study protocol and the clinical findings of the patients at baseline. METHODS: The PSS-ESG is a retrospective, multicentre study designed to evaluate patients with PSS. The study, designed and driven by a European Expert Committee includes three datasets: (1) the baseline, (2) the follow-up and (3) the intraocular pressure (IOP)/glaucoma dataset. RESULTS: A total of 11 centres adhered to the PSS-ESG and 107 patients were included (68 males, 39 females) mostly Caucasian (93.4%). At uveitis onset, the patient's age ranged between 11 and 76 years, (mean age: 42±15 years).Best-corrected visual acuity was >0.5 in 80.3% of the eyes, IOP was >40 mm Hg in 44% of the eyes. Keratic precipitates were found in 78.5% of the eyes. No flare or cells in anterior chamber were detected in 56% and 53% of the cases, respectively. PCR analysis on aqueous sample was positive for cytomegalovirus-DNA in 50.6% out of the 81 tested patients. CONCLUSIONS: The PSS-ESG is the first multicentre study aimed to collect a comprehensive dataset of patients with PSS in non-Asian countries. A middlde-aged Caucasian male with a low-grade anterior chamber inflammation, keratic precipitates, preserved visual acuity and marked increased in IOP seemed to be the standard PSS patient across the 11 uveitis and glaucoma centres participating in the PSS-ESG.

DEXAMETHASONE IMPLANT VERSUS TOPICAL CARBONIC ANHYDRASE INHIBITORS IN PATIENTS WITH BILATERAL RETINITIS PIGMENTOSA-RELATED CYSTOID MACULAR EDEMA: A Prospective, Paired-Eye Pilot Study.

PURPOSE: To compare within-subject efficacy and safety of intravitreal dexamethasone implant and topical carbonic anhydrase inhibitors in the treatment of retinitis pigmentosa-related cystoid macular edema. METHODS: Patients with bilateral retinitis pigmentosa-related cystoid macular edema were treated with intravitreal dexamethasone implant in one eye and topical carbonic anhydrase inhibitors in the contralateral eye. The primary endpoint was a change in central macular thickness. Secondary endpoints were changes in best-corrected visual acuity and microperimetric central retinal sensitivity. Intraocular pressure and other ocular complications were evaluated for safety assessment. RESULTS: Nine patients were recruited for this 12-month follow-up study. Central macular thickness was significantly lower in intravitreal dexamethasone implant-treated eyes than in topical carbonic anhydrase inhibitors-treated eyes at Months 1 and 7, whereas mean best-corrected visual acuity was better in eyes treated with topical carbonic anhydrase inhibitors at Month 12 (borderline significant P = 0.0510). There was no difference in microperimetric sensitivity between the two treatments. Three patients developed ocular hypertension after intravitreal dexamethasone implant. Intravitreal dexamethasone implant showed an effect on the contralateral eye in five of nine patients. CONCLUSION: Intravitreal dexamethasone implant was more effective than topical carbonic anhydrase inhibitors in reducing retinitis pigmentosa-related cystoid macular edema 1 month after treatment. Corticosteroids can play a key role in the management of retinitis pigmentosa-related cystoid macular edema; however, their routes, timing, and modes of administration should be further explored.

Sarcoid Uveitis: An Intriguing Challenger.

The purpose of our work is to describe the actual knowledge concerning etiopathogenesis, clinical manifestations, diagnostic procedures, complications and therapy of ocular sarcoidosis (OS). The study is based on a recent literature review and on the experience of our tertiary referral center. Data were retrospectively analyzed from the electronic medical records of 235 patients (461 eyes) suffering from a biopsy-proven ocular sarcoidosis. Middle-aged females presenting bilateral ocular involvement are mainly affected; eye involvement at onset is present in one-third of subjects. Uveitis subtype presentation ranges widely among different studies: panuveitis and multiple chorioretinal granulomas, retinal segmental vasculitis, intermediate uveitis and vitreitis, anterior uveitis with granulomatous mutton-fat keratic precipitates, iris nodules, and synechiae are the main ocular features. The most important complications are cataract, glaucoma, cystoid macular edema (CME), and epiretinal membrane. Therapy is based on the disease localization and the severity of systemic or ocular involvement. Local, intravitreal, or systemic steroids are the mainstay of treatment; refractory or partially responsive disease has to be treated with conventional and biologic immunosuppressants. In conclusion, we summarize the current knowledge and assessment of ophthalmological inflammatory manifestations (mainly uveitis) of OS, which permit an early diagnostic assay and a prompt treatment.

Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers.

Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological manifestations are due to both the hepatic and ocular production of mutated TTR. In this case series, we report the ocular manifestations of hATTR in eighteen eyes of nine consecutive patients. Corneal nerve abnormalities as well as morphological and functional changes in the retina were investigated. The study was a single-center, retrospective, observational, clinical case series. In all patients, corneal confocal microscopy (CCM), multimodal imaging of the retina, including fundus photography and Optical Coherence Tomography (OCT), as well as rod and cone electroretinography (ERG) were performed. Eight patients had active disease and one was an unaffected carrier. In all study eyes, corneal nerve plexa examined with CCM were poorly represented or absent. Mixed rod-cone and cone ERG b-wave amplitudes were reduced, and photopic b-wave responses were significantly delayed. Photopic Negative Response (PhNR) amplitude was significantly reduced, while PhNR latency was significantly augmented. In 13/18 eyes, vitreous opacities and abnormalities of vitreo-retinal interface were found. The current results highlight the presence of corneal nerve damage. Functional retinal abnormalities, detected by ERG, can be found even in the presence of minimal or absent structural retinal damage. These findings support the use of CCM and ERGs to detect early biomarkers for primary hATTR.

Ocular Involvement in Hereditary Amyloidosis.

The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues.