Double hit: Mantle Cell Lymphoma associated with squamous cell carcinoma or chalazion? A case report.

Abstract: A few cases of ocular adnexal neoformations related with MCL have been reported in the literature. We present a rare case of tumour duplicity: mantle cell lymphomas (MCL) associated with squamous cell carcinoma (SCC) localised at the level of the ocular adnexa, on left upper eye lid mass since two years of 18 mounth duration in a 57-year-old man who had previously been diagnosed with stage IV MCL for 14 months. The patient had been treated according to the R-DHAP scheme for 4 cycles, in anticipation of a possible autologous HSC transplant, which was not carried out due to a positive diagnosis at the end-of-cycle osteomedullary biopsy (BOM) check. Ophthalmological examination was performed, and afther surgical removal histological examination proved to be squamous cell carcinoma (SCC). The aim of this case report is to decode the signs, symptoms and factors associated with the formation, that appear to be a chalazion, at an early stage in order to prevent the overgrowth of the mass that could invade the surrounding tissues by infiltrating them, as well as negative aesthetic outcomes of the surgery due to the excessive size of the mass, which could compromise the patient's quality of life.

Papilledema in childhood for diagnosis of pseudotumor cerebri or late hydrocephalus: a case report.

Abstract: A case of hydrocephalus is presented in a 13-year-old female with transient loss of vision from 1 week and papilledema, previous ophtalmological history was negative. Visual field was performed, and neurogical examination proved to be hydrocephalus. In literature few cases of Papilledema in adolescent children with hydrocephalus has been reported. The aim of this case report is to decode the signs, symptoms and factors associated with papilledema in children with hydrocephalus at an early stage in order to prevent a poor visual-functional residual (permanent low vision).

Intravitreal injections primary prevention: a case-control study.

OBJECTIVE: Intravitreal injections (IVI) of therapeutic substances are one of the most common procedures in ophthalmology and, for sure, the most feared complication of them is endophthalmitis. Nowadays, a precise prophylactic protocol does not exist to avoid these infections, and the role of new antiseptic drops is an interesting field of research in this regard. In this article we are going to discuss the tolerability and the efficacy of a new antiseptic drop based on a solution of hexamidine diisethionate 0.05% (Keratosept®; Bruschettini Srl, Genoa, Italy). PATIENTS AND METHODS: This was a single-center, case-control study, comparing the in vivo effect of hexamidine diisethionate 0.05% with povidone iodine 0.6% solution during IVI program. Ocular bacterial flora composition was analyzed with a conjunctival swab on day 0. After injection patients underwent antibacterial prophylaxis with Keratosept for 3 days or povidone iodine 0.6%. A second conjunctival swab was collected on day 4 and patients were asked to fulfill a questionnaire based on the OSDi model, to investigate the ocular tolerability of the drug administered. RESULTS: Efficacy was tested on 50 patients, 25 of whom received hexamidine diisethionate 0.05% drops and the other 25 received povidone iodine 0.6% solution drops, 100 total conjunctival swabs, 18 positive swabs before and 9 after treatment for the first group and 13 before and 5 after for the second one. Tolerability was tested on 104 patients, 55 underwent Keratosept therapy and 49 povidone iodine one. CONCLUSIONS: Keratosept demonstrated a good efficacy profile with better tolerability against povidone iodine in the analyzed sample.

Efficacy of 190 mcg fluocinolone acetonide intravitreal implant: microperimetry and OCT real-life data.

OBJECTIVE: Fluocinolone acetonide is a valid alternative treatment for patients with chronic diabetic macular edema (DME) with poor response to anti-vascular endothelial growth factor (VEGF) therapy. The purpose of this study is to report the efficacy and safety of ILUVIEN® implant in pseudophakic eyes with persistent DME. PATIENTS AND METHODS: This is a single-centre pilot-study of 8 patients with persistent DME treated with the ILUVIEN implant, despite previous anti-vascular endothelial growth factor and/or steroid treatment. Best-corrected visual acuity (BCVA), optical coherence tomography (OCT) central retinal thickness, intraocular pressure (IOP) and microperimetric data were evaluated at baseline and month 1, 3 and 6 post treatment. RESULTS: All data are presented as mean and standard deviation. At baseline, 1, 3 and 6 months, we had BCVA of 0.26±0.22, 0.38±0.27, 0.48±0.27 and 0.46±0.24; IOP of 15.00±2.67, 15.50±3.16, 14.88±2.42 and 15.63±2.67 mmHg; macular thickness of 652±231, 487±278, 475±287 and 413±211 µm; macular sensitivity of 6.83±4.20, 6.13±3.72, 7.68±3.40 and 7.71±3.33 dB; bivariate contour elliptic area (BCEA) 95.4% 3.8±3.42, 6.06±10.06, 3.05±2.46 and 2.59±2.19°2. CONCLUSIONS: According to the results of our study, fluocinolone acetonide (FAc) is a valid therapy option despite some limitations. It has been evidenced that FAc is more effective in patients with mild central macular thickening, while in those with modest to severe central macular thickness (CMT), different therapy strategies should be considered.

Vitreous and plasma changes of endothelin-1, adrenomedullin and vascular endothelium growth factor in patients with proliferative diabetic retinopathy.

OBJECTIVE: To assess vitreous and plasma changes of vascular endothelial growth factor A (VEGF-A), adrenomedullin (ADM) and endothelin-1 (ET-1) in proliferative diabetic retinopathy (PDR). PATIENTS AND METHODS: 9 patients with PDR in type 2 diabetes (T2DM) and 11 age-matched non-diabetic patients were enrolled. The levels of VEGF-A, ADM and ET-1 were measured using an enzyme (ELISA) and a radioimmunoassay (RIA) both in vitreous and plasma samples. RESULTS: Vitreous ADM and VEGF-A levels were significantly higher in PDR patients (p=0.04 and p=0.02), whereas no differences were found in ET-1 levels (p=0.29). Plasma ADM levels were significantly higher in the PDR group (p<0.01), whereas no significant differences were found in the plasma ET-1 and VEGF-A levels (p=0.30 and p=0.37). The ADM vitreous/plasma ratio was significantly reduced in PDR group. CONCLUSIONS: The role of ET-1 in advanced PDR is still controversial; it has been supposed a role limited to induce hypoxic state and promote angiogenesis in the early phases. Once the neo-angiogenic process starts, other mediators are mainly involved as VEGF and ADM. Our findings suggest that ADM is an important marker of advanced PDR as well as VEGF. Conversely, ET-1 is not significantly involved in the advanced stage of PDR.

Posterior capsule opacity in Retinitis Pigmentosa according to different biomaterials of intraocular lenses: Our clinical experience.

BACKGROUND AND AIM: Complicated Cataract is frequently associated with Retinitis Pigmentosa (RP). This retinopathy is a great cause of visual impairment, and cataract surgery may resolve partially the situation and restore sight. Unfortunately, in this case there is a very high incidence of Posterior Capsule Opacity (PCO) ranging in several studies a percentage of 100% at six months. Our goal was to evaluate whether the high incidence of PCO is associated to specific type of Intraocular Lens (IOL) biomaterials. MATERIALS AND METHODS: This observational retrospective study deals with 75 eyes of 43 patients affected with RP who underwent to cataract surgery with posterior chamber IOL implants (40% ECCE and 60% Phaco). Selected biomaterials were: 30 Poly (methyl methacrylate) (PMMA), 11 silicone, 34 acrylic. Observations were performed with retro-illumination camera and when recorded capsular fibrosis a PCO YAG laser capsulotomy was made. The patients were controlled at 3-6-12 months after the initial surgical treatment. RESULTS: At three months of follow up, 80% of patients with PMMA, 81.8% silicone implants underwent to YAG capsulotomy while only 44% of acrylic type. At six months of follow-up 83.3% of patients with PMMA and 81.8% silicone implants underwent to YAG capsulotomy while only 49.88% of acrylic type. At 12 months of follow up 89.9% of patients with PMMA and 90.95 silicone implants underwent to YAG capsulotomy while only 52.82% of acrylic type. CONCLUSIONS: We could not be able to differentiate incidence between different brand type of lens in PMMA. For Acrylic lens instead we noted an incidence of PCO of 41.38% with hydrophobic material and 60.0% of hydrophilic material. In conclusion to avoid massive PCO in RP, our experience is statistically significant, in fact the protective action of smooth material hydrophobic lens avoids the epithelial growth and fibrosis towards the center of visual axis.

Macular hole in retinitis pigmentosa patients: microincision vitrectomy with polydimethylsiloxane as possible treatment.

PURPOSE: To investigate long-term retinal changes after microincision pars plana vitrectomy surgery (MIVS) for macular hole (MH) in retinitis pigmentosa (RP) patients-retrospective and observational study. METHODS: Three RP patients suffering from MH were evaluated by means of best corrected visual acuity, anterior and posterior binocular examination, spectralis high-resolution optical coherence tomography, MP-1 microperimetry (MP-1), and full-field electroretinogram (ERG), before MIVS and during the 36-month follow-up. Patients underwent simultaneous MIVS and microincision cataract surgery; IOL was positioned in capsular bag. Patients were hospitalised for 2 days after the surgery. Surgical procedure was performed according the following schedule: surgical removal of crystalline lens, MIVS with 23-gauge sutureless system trocars, core vitreous body removal, peeling of the inner limiting membrane, and balanced sterile saline solution-air-micro-structured polydimethylsiloxane (PDMS) exchange. PDMS tamponade, after 6 months starting from MIVS, was removed. RESULTS: In all patients visual acuity increased after vitrectomy as a consequence of complete MH closure and restoration of retinal architecture. None of the patients developed ocular hypertension, or re-opening of MH during the 3-year follow-up. MP-1 bivariate contour ellipse area was reduced in its dimensions and improved in all patients demonstrating a better fixation. CONCLUSIONS: MIVS could be an effective treatment in RP patients with MH if medical therapy is not applicable or not sufficient. Finally more studies will be needed to improve knowledge about this genetic disease.

[Acute posterior multifocal placoid pigment epiteliopathy and neurological involvement in an elderly patient: case report and review]. / Epiteliopatia acuta multifocale posteriore a placche di pigmento e coinvolgimento neurologico in un paziente anziano: caso clinico e revisione della letteratura.

We report a rare case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) in an elderly patient and a review of the recent scientific literature. A 65-year-old Caucasian man, forty-five days after return from tropical travel he developed right-sided facial palsy with right hemiplegia, dysarthria and a positive Babinski sign. He started prednisone 90 mg/day. Clinical, laboratory and imaging examinations were reported. Five months later there was a complete neurological and ophthalmological recovery. Although APMPPE was described primarily in young adults, we report the first case of APMPPE associated with neurological involvement in an older patient with a complete restitutio ad integrum.

[Subconjunctival Loiasis: case reports and review of cases described in Italy]. / Filariasi sottocongiuntivale da Loa loa: revisione della letteratura di casi clinici descritti in Italia.

Filariasis or Loiasis is an eye infection caused by a parasite belonging to the species Loa loa, also known as "African eye worm" since it is present in the rainforests belt of western and central Africa. The purpose of this study is the description of a clinical case presented to our department. A 40-years-old Congolese woman, in the third month of pregnancy, complained a foreign body sensation in the right eye for which she was submitted to complete ophthalmologic examination. Slit-lamp examination revealed, in the infero-temporal subconjunctival space, the presence of a live whitish worm that moved slowly in the thickness of the tissues. Place a clinical suspicion of subconjunctival filariasis, were performed parasitological and serological analysis; laboratory test showed peripheral blood eosinophilia and the blood film examination was negative for the presence of circulating microfilariae. The worm was surgically removed under topical anesthesia and the histological examinations of the parasite confirmed that it was an adult male worm belonging to the species Loa loa. Due to the large increase of migratory flows to Europe, number of reports of loiasis is becoming more frequent; the knowledge of this emerging pathogens is essential for diagnosis and treatment planning.

Optical Coherence Tomography evaluation in X-linked retinoschisis.

X-linked Retinoschisis is a bilateral retinal disease with a recessive X-linked inheritance, characterized by a macular involvement. Maculopathy consists of bilateral star-shaped microcystic changes. Peripheral retina is sometimes involved with schisis. In two years, were examined 10 eyes of 5 male patients (age range 20-25 years old) with X-linked Juvenile Retinoschisis and progressive reduction of visual acuity. Macular alterations were classified as: Typical foveal schisis; Altered foveal reflection; Lines of pigmentary demarcation; Retinal pigmentary epithelium atrophy; Hole in retinal internal layer. OCT images showed a separation of neurosensorial retina that coincided with classical histopathological findings. Examination results were correlated with clinical examination and compared with ERG findings. OCT images underline an increase of retinal thickness with a separation in the nerve fiber layer in the foveal space.

The effect of latanoprost and influence of changes in body position on patients with glaucoma and ocular hypertension.

BACKGROUND AND OBJECTIVES: Some patients have an elevation of intraocular pressure (IOP) in the supine position (IOPSP). It has been suggested that topical latanoprost 0.005% (LP) has an attenuating effect on these IOP elevations. The Authors report a simple procedure to evaluate the change in the IOPSP. This paper presents the results of the change in the IOPSP in normals, in patients with ocular hypertension (OH) and in patients with primary open angle glaucoma (POAG). The study also evaluates the effect of the addition of topical LP on those patients with an elevation of their IOPSP. PATIENTS AND METHODS: Part 1 evaluated the change in the IOPSP in the morning in 40 eyes of normals, 82 eyes in patients with OH and 77 eyes in patients with POAG. The IOP was measured before and after lying in the supine position (SP) for 90 minutes. In part 2 the patients with OH or POAG with an increase in their IOPSP were selected and the test was repeated again after the addition of topical LP. RESULTS: When compared with normals, the patients with OH and POAG had significantly greater IOPSP increases. The patients with POAG had significantly greater IOPSP increases than did those with OH. The addition of LP partially decreased but did not eliminate the IOP increases in the SP. CONCLUSIONS: Patients with OH and POAG have a larger increase in their IOPSP than do normals. The addition of topical LP partially decreased but did not totally eliminate these pressure increases.

[Waardenburg Syndrome: a review of literature and case reports]. / Revisione critica della letteratura sulla Sindrome di Waardenburg e presentazione di due casi clinici.

Waadernburg syndrome (WS) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineuronal hearing loss of variable degree and anomalous pigmentation (of the eyes, skin and stria vascularis of cochlear duct) caused by melanocytes absence. The syndrome is caused by mutations in genes that regulate the melanocytes differentiation from the neural crest during embriogenetic development. This study will review the literature on WS and explain more in detail the ocular findings in WS, while reporting new findings on two newly diagnosed cases.

Aminaphtone in the treatment of pseudophakic cystoid macular edema: a case report.

PURPOSE: Cystoid macular edema (CME) following cataract surgery has been recognized for over 50 years as an important cause of suboptimal post-operative vision. The incidence of CME varies widely, but is likely in the range of 1-2% using modern cataract extraction techniques. We report the case of resolution of post-operative CME after treatment with aminaphtone 75 mg three time a day for one month. METHODS: A 74-year-old causasian woman presented with reduced vision in the left eye after one month from uneventful cataract phacoemulsification. She underwent a complete ophthalmological examination comprehensive of spectral domain optical coherence tomography (SD-OCT) which showed CME and a central foveal thickness (CFT) of 703 micron. The patient was treated with aminaphtone for one month. RESULTS: CME disappeared, the CFT was within normal limits when aminaphtone was ceased, and best corrected visual acuity was 20/20 at the end of the treatment. CONCLUSION: Aminaphtone is a novel proposal in the treatment of pseudophakic cystoid macular edema.

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

BACKGROUND: Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. METHODS: To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three-dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non-progressive anomaly. RESULTS: Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. CONCLUSIONS: Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.

Endothelin-1 plasma concentrations in patients with retinitis pigmentosa.

PURPOSE: The aim of this study was to investigate the behaviour of plasma endothelin-1 (ET-1) levels in patients affected by retinitis pigmentosa (RP) and syndromic RP. METHODS: Blood samples were obtained from a group of 40 consecutive patients with RP matched with 35 healthy subjects (HS) as control. We carried out a complete ophthalmological examination. The study group included 26 patients with RP and 14 patients with syndromic RP. Plasma ET-1 levels were determined in duplicate with a specific radioimmunoassay method. RESULTS: In the HS plasma ET-1 levels were 7.48+/-2.58 pg/mL. The mean of plasma ET-1 concentrations in all patients with RP ( 16.2+/-5.6 pg/mL) was significantly (P<0.01) higher than that of HS. Moreover, in the syndromic RP patients, plasma ET-1 levels (18.9+/-6.8 pg/mL) were higher than those of HS and RP patients (P<0.01). CONCLUSION: The increase of plasma ET-1 levels in RP patients suggests that ET-1 may play a role in the pathophysiology of the diseases involving retinal pigment epithelial cells and the retinal vascular system such as RP.

Plasma levels of adrenomedullin, a vasoactive peptide, in type 2 diabetic patients with and without retinopathy.

AIM: The aim of this study was to investigate whether adrenomedullin (AM) secretion is modified in type 2 diabetic patients with and without retinopathy. METHODS: The study was performed on 92 patients with type 2 diabetes, 65 of whom had uncomplicated diabetes, 27 had retinopathy, and 40 had mild to moderate hypertension. Patients with serum creatinine levels >1.2 mg/dL, were excluded. Circulating AM was assayed using a specific radioimmunoassay. RESULTS: AM concentrations were significantly higher in type 2 diabetic patients (25+/-2.1 pg/mL) than in the 31 normal subjects (11+/-0.8 pg/mL) (P<0.001). Type 2 diabetic patients with retinopathy had significantly greater AM levels (30.8+/-3.4 pg/mL) than both controls (P<0.001) and type 2 diabetic patients without retinopathy (25.2+/-2 pg/mL same as previous value) (P<0.001). No statistical difference was found between diabetic patients with pre-proliferative retinopathy (27.3+/-4.7 pg/mL) and proliferative retinopathy (24+/-3.1 pg/mL) (P=0.543). In type 2 diabetic patients, a significant correlation between plasma AM levels and HbA1c values (r=0.467; P<0.01) was found. CONCLUSION: Our findings indicate that circulating AM is increased in type 2 diabetic patients and that increase correlates with poor glucose metabolic control and presence of retinopathy.

Adrenomedullin plasma concentrations in patients with retinitis pigmentosa.

PURPOSE: To evaluate the relationship between retinitis pigmentosa (RP) and plasma adrenomedullin (ADM) levels. METHODS: Blood samples were obtained from a group of 40 consecutive patients with RP matched with 35 healthy subjects (HS) as control. We carried out a complete ophtalmological examination. The study group included 26 patients with RP and 14 patients with syndromic RP. Plasma ADM levels were determined in duplicate with a specific radioimmunoassay method. RESULTS: In the HS plasma ADM levels were 13.7 +/- 6.1 pg/mL. The mean of plasma ADM concentrations in all patients with RP (23.4 +/- 10.7 pg/mL) was significantly (P < 0.0001) higher than that of HS. Moreover, in the syndromic RP patients, plasma ADM levels (28.6 +/- 14.35 pg/ml) were higher than those of HS and RP patients (P < 0.0017). CONCLUSION: The increase of plasma ADM levels in RP patients may be a response to photoreceptor damage.

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 gene (GJA1) [Paznekas et al. (2003): Am J Hum Genet 72:408-418], which is localized to human chromosome 6q22-q23. Here, we describe the identification of a novel heterozygous missense mutation in the GJA1 gene, (H194P) in an Italian family previously reported to be affected by isolated autosomal dominant microphthalmia [Vingolo et al. (1994): J Med Genet 31:721-725]. Careful clinical re-evaluation revealed that this family shows an atypical form of ODDD, characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly. The mutation affects an amino acid residue localized in the second extracellular domain of the Cx43 protein and highly conserved across evolution. This finding confirms the highly variable phenotypic expression caused by GJA1 mutations.

Deflazacort treatment of cystoid macular edema in patients affected by Retinitis Pigmentosa: a pilot study.

BACKGROUND: To investigate the efficacy of a long-term treatment with Deflazacort (DFZ), a third generation synthetic glucocorticoid, in patients affected by Retinitis Pigmentosa (RP) complicated by Cystoid Macular Edema (CME). METHODS: A randomized group of 10 RP subjects were selected for this pilot study and treated with DFZ for one year according to a standard protocol. Far and near Best Corrected Visual Acuity (BCVA), fluorescein angiography (Heidelberg Retina Angiograph) and computerized perimetry (Humphrey Visual Field Analyzer) were statistically assessed. RESULTS: Near visual acuities, fluorescein angiographic findings and perimetric data improved significantly (p < 0.01) while far BCVA varied only slightly (p < 0.05). No ocular or systemic side effects were recorded. CONCLUSIONS: Further case-control studies, also involving a larger number of patients, are required to confirm these preliminary results. However, the present investigation seem to suggest that DFZ could be effective in reducing fluorescein angiographic findings and improving perimetric data and near visual acuities in RP patients, even though the pathogenesis of CME remains poorly understood.