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To characterize by multimodal approach the phenotype of patients from a 3 generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the cone-rod homeobox-containing (CRX) gene.Examination of the adult patients included the following tests: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and OCT angiography (OCT-A) recordings. In a 2.5-year-old child, cycloplegic refraction, fundoscopy, ocular motility evaluation and electrophysiological exams were performed. Next Generation Sequencing of patients' DNA has been carried out.A novel CRX pathogenic variant has been identified in our patients. The 2.5-year-old child in the third generation was found to have inherited the variant, with no clinical signs of the condition, but electroretinographic abnormalities in the scotopic component. In the adult patients, diffuse atrophy of the retinal pigment epithelium/photoreceptor complex in the macular region was evident at the OCT and FAF, while OCT-A showed choriocapillaris density reduction.Multimodal study allowed the characterization of a peculiar form of CRD. The novel pathogenic variant seems to have a different effect on the phenotype if compared with a previously described similar one, giving an insight into the pathogenic mechanism of CRX-related retinal dystrophies and offering valuable information that could lead to the development of possible future therapies.

We report a rare case of congenital retinal macrovessel with decreased visual acuity, with a 14-year follow-up. Both the clinical findings and the visual acuity remained unchanged throughout the follow-up period.

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

After a survey of cases in the literature reported, two cases of Crouzon disease, in monovular twins are described. The observation in twins and the opportunity of histologic examination of optic nerve, permitted some considerations in order to help in understanding this syndrome.

Aim: The purpose of this paper was to evaluate whether optical coherence tomography angiography (OCT-A) can be used to quantify the vascular changes in radiation maculopathy, and changes in the tumor vasculature in eyes treated with plaque radiotherapy for choroidal melanoma. Methods: In this prospective study, we evaluated 39 Caucasian patients with choroidal melanoma (39 eyes) treated with ruthenium-106 plaque radiotherapy. The patients underwent complete ophthalmic examination, bulbar echography, and OCT-A before and 1 year after treatment. Results: At baseline, the mean best-corrected visual acuity (BCVA) in the affected eyes was 0.35 ± 0.40 logMAR, and the mean tumor thickness was 2.68 ± 0.25 mm at A-scan echography. After treatment, the mean BCVA increased to 0.41 logMAR, the mean tumor thickness decreased to 1.66 ± 0.23 mm, and the tumor basal diameter was significantly reduced (U = 108, p = 0.001). Moreover, the capillary vessel density was significantly lower in all Early Treatment of Diabetic Retinopathy Study sectors, and both the vessel and flow areas were significantly reduced (p = 0.030 and p = 0.001, respectively). Conclusions: OCT-A is a noninvasive, reliable method with which to quantify the vessel changes in radiation maculopathy and, given the association between vascularization and malignancy, this procedure may be an aid in treatment decision-making and in monitoring the efficacy of treatment.

Purpose: To describe the optical coherence tomography angiography characteristics of myopic patients with choroidal neovascularization secondary to pathologic myopia during ranibizumab therapy. Methods: Nineteen patients were enrolled in this prospective study (13 females, 6 males, mean age 55.25 ± 9.63 years) for a total of 20 eyes examined (14 right eyes, 6 left eyes). Images were analyzed independently by two examiners. Results: Mean follow-up was 5.75 ± 1.88 months, with a mean intravitreal injections of 1.90 ± 0.44. Mean best-corrected visual acuity at baseline was 0.39 ± 0.18 logMAR versus 0.26 ± 0.16 logMAR 6 months after treatment. The neovascular area (Z = –2.091, p = 0.037) was significantly reduced after treatment, whereas vessel density was not (Z = –1.848, p = 0.065). Moreover, the best-corrected visual acuity was increased (Z = –3.055, p = 0.002). Neovascular area was significantly correlated with best-corrected visual acuity, at both baseline and follow-up (p Conclusion: Our data suggest that optical coherence tomography angiography is a reproducible non-invasive examination with which to monitor changes in the neovascular area in patients with pathologic myopia treated with ranibizumab.

PURPOSE: The purpose of this study was to evaluate the orally administered combination of flavonoids desmin and troxerutin with Centella asiatica and Melilotus for the treatment of diabetic cystoid macular edema (CME) without macular thickening. METHODS: In this prospective, interventional, controlled study, 40 consecutive patients with type 2 diabetes and CME without macular thickening at optical coherence tomography were randomized into 2 groups of 20 subjects each (treatment and control groups). The treatment group received an oral combination of desmin (300 mg/day) and troxerutin (300 mg/day) with C. asiatica (30 mg/die) and Melilotus (160 mg/die) for 14 months. Best collected visual acuity, central retinal thickness at optical coherence tomography, retinal sensitivity (RS), and stability of fixation at microperimetry were measured at baseline and monthly for 14 months. RESULTS: In both groups, mean best collected visual acuity, central retinal thickness, and stability of fixation did not show differences during follow-up (P > 0.05). At month 14, the RS was greater in the treated group (P = 0.01) and was significantly reduced in the control group only (P

Retinal angiomatous proliferation (RAP) is a distinct form of choroidal neovascularization which may complicate a wet age related macular degeneration (AMD). This exudative-AMD has a peculiar clinical history and prognosis. RAP accounts from 8% to 22% of newly diagnosed cases among patients previously diagnosed as exudative AMD, and up to 25% of the occult or minimally classic CNV. The disease is more prevalent in women (90% of cases) and in elderly patients (around 75 years), and is characterized by a very poor prognosis. The neovascular process, whose retinal or choroidal origin is still object of discussion, often hesitates in the formation of a disciform scar, that evolves into a severe loss of central vision. Treatment for RAP is not yet well established; herein are described the most used therapeutic strategies, starting from laser photocoagulation until the nearest anti VEGF. The opportunity of combination among various treatments to obtain a better effectiveness and a lower frequency of recurrence is also discussed.

Purpose To evaluate the efficacy of optical coherence tomography (OCT) angiography versus fluorescein angiography (FA) in terms of retinal vessel imaging in ischaemic diabetic maculopathy defined according to the Early Treatment Diabetic Retinopathy Study (ETDRS) classification. Methods Twenty patients (31 eyes) with ischaemic diabetic maculopathy and 17 control subjects (27 eyes) were enrolled in this prospective study. Patients and control subjects underwent complete ophthalmic examination, including best-corrected visual acuity (BCVA), intraocular pressure, FA, Fourier domain optical coherence tomography (FD-OCT) and OCT angiography. Fluorescein angiograms and OCT angiography images were graded according to the foveal avascular zone (FAZ) of the ETDRS group. Ganglion cell complex (GCC) thickness was evaluated with FD-OCT. Results Optical coherence tomography (OCT) angiography images closely correlated with FA in terms of FAZ parameters. The correlation was strongest with OCT angiography deep imaging. The average GCC thickness was smaller in patients than in controls. Neither GCC parameters nor FAZ was correlated to BCVA. Conclusions Given the correlation between FA and OCT angiography in terms of FAZ parameters, the newer method can be considered a valid, reliable and easy-to-perform method with which to evaluate ischaemic diabetic maculopathy without contrast injection, and thus to visualize and quantify non-perfusion areas without risks of anaphylactic reactions.

Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and Chorioretinal degeneration that was characterized by various degrees of clinical expression. Methods: An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologie investigations were also performed. Results: In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. Conclusions: The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy. J Pediatr Ophthalmol Strabismus 2002;39:288292.

Purpose To evaluate improvement in best-corrected visual acuity (BCVA) and the reduction of central retinal thickness (CRT) in patients with macular edema secondary to retinal vein occlusion (RVO) after intravitreal bevacizumab (IVB) injection combined with macular grid photocoagulation. Methods A retrospective study of 54 consecutive eyes with macular edema associated with RVO. The BCVA and CRT, recorded with spectral-domain optical coherence tomography, were evaluated at baseline and 1, 3, 6, and 12 months after treatment onset. Intravitreal bevacizumab injection was administered at baseline, and macular grid photocoagulation 15 days later. During follow-up, additional IVB, at 1-month intervals, was administered if persistent or recurrent macular edema was observed on optical coherence tomography. Results Best-corrected visual acuity was improved and CRT was reduced at 1, 3, 6, and 12 months of follow-up. Compared with initial values, the final CRT was significantly reduced in patients with branch RVO (35 patients) and in patients with central RVO (19 patients) (pConclusions Intravitreal bevacizumab injection combined with macular grid photocoagulation reduces recurrent macular edema associated with branch RVO and central RVO.

Purpose: To report the functional and anatomic features of a case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Methods: Case report. Results: A 30-year-old man presented with a decrease of visual acuity that started a few days earlier. Fundus examination showed multiple, subretinal, white-yellowish lesions at the posterior pole in both eyes, suggesting APMPPE. Symptoms and clinical signs resolved within a few weeks, leaving welldefined areas of atrophy of the retinal pigment epithelium (RPE). Conclusions: This case report emphasizes the role of the RPE in the pathogenesis of APMPPE.

PurposeTo evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex (GCC) after ocular blunt trauma.MethodsBest-corrected visual acuity (BCVA), cpRNFL and GCC were evaluated by RTVue-100 OCT in all consecutive patients with previous monocular blunt trauma seen between January 2012 and December 2012.ResultsTwenty-two patients (11 females, 11 males, mean age 43.9±14.2 years) were included in the study. Patients were seen after a mean of 8.42±13.3 (range, 0.08-55.3) years from ocular blunt trauma. BCVA was normal in 11 cases and was less than 0.4 LogMAR in all cases. In 9/22 patients (40.9%), cpRNFL and GCC were reduced, whereas in one case an isolated reduction of GCC with normal cpRNFL was present. In patients with reduction of cpRNFL and GCC, mean BCVA was 0.17±0.17 LogMAR. In 6/9 patients (66.6%) with cpRNFL and GCC reduction, BCVA was ≤0.1 LogMAR.ConclusioncpRNFL and GCC reduction may be present after ocular blunt trauma and may be associated with preserved visual acuity

Item does not contain fulltext Abstract We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.

Purpose: To investigate light sensitivity in eyes presenting with subretinal drusenoid deposits (SDD). Methods: All consecutive patients with SDD only seen between January 2012 and July 2012 were included. A control group of consecutive age- and sex-matched control subjects presenting at least one eye with early age-related macular degeneration was considered. In all cases best-corrected visual acuity (BCVA), color fundus photography, fundus autofluorescence imaging and spectral-domain-optical coherence tomography with integrated microperimetry were performed. Results: Twenty-one eyes (21 patients, 9 females, 12 males, mean age 69.2 ± 5.3 years, mean BCVA 0.18 ± 0.14 LogMAR) were included in the SDD group. Twenty eyes of 20 patients (13 females, 7 males, mean age 69.1 ± 3.9 years, mean BCVA 0.16 ± 0.15 LogMAR) were included in the control group. In eyes with SDD the choroid was thinner at the subfoveal location, and at 1,500 μm superior, inferior, temporal and nasal to the fovea (p < 0.05). In eyes with SDD, the overall mean light sensitivity in the central macula (4.21 ± 2.46 dB) was significantly reduced when compared to the control group (6.81 ± 2.12 dB, p = 0.001), while stable fixation was present in both groups. Correlation between BCVA and mean light sensitivity in the central 7 × 7 mm square was low in the SDD group (Pearson's rho = 0.4, p = 0.01), while it was good in the control group (Pearson's rho = 0.7, p = 0.001). Conclusions: Eyes with SDD showed reduced sensitivity despite preserved BCVA. Reduced choroidal thickness could be involved in reduction of light sensitivity.

To evaluate long-term follow-up of the orally administered combination of flavonoids with Centella asiatica and Melilotus for treatment of diabetic cystoid macular edema (CME) without macular thickening. Methods: Seventy consecutive patients with type 2 diabetes and CME without macular thickening at optical coherence tomography (OCT) were prospectively and randomly enrolled in two groups of 35 subjects each (treatment and control groups). Patients in the treatment group were treated with an oral combination of diosmin (300 mg/day), with C. asiatica (15 mg/day) and Melilotus (160 mg/day). All patients underwent a complete ophthalmologic examination, OCT (Spectralis HRA-OCT), and central microperimetry (SD-SLO/OCT) at baseline, month 3, month 6, month 12, month 24, and month 36. Results: No differences in HbAc1 percentage, blood pressure, microalbuminuria, visual acuity, mean central retinal thickness, and stability of fixation were present between the two groups during follow up (p>0.05). Retinal sensitivity reduced in the control group only from month 6 until month 36 (p

Purpose: We report the case of a young man with choroidal neovascularization (CNV) associated with vitelliform macular dystrophy (Best's disease), who underwent treatment with intravitreal bevacizumab. Case: A 17-year-old white male presented for a routine ocular examination after reduction of visual acuity and was diagnosed with CNV in both eyes secondary to Best's disease. The diagnosis was confirmed by an ophthalmologic examination that included fluorescein angiography, indocyanine green angiography, Fourier optical coherence tomography, and microperimetry. Best corrected visual acuity was 5/10 in the right eye and 6/10 in the left eye. An intravitreal injection of bevacizumab was administered in both eyes. Results: One month after bevacizumab injection, vision was 10/10 in both eyes. At a follow-up of 18 months, there was an absence of the neovascularization activity, and microperimetry revealed a marked improvement in retinal macular sensitivity. Conclusion: Intravitreal bevacizumab injection induced total regression of CNV as well as a morphologic and functional improvement in a young man affected by bilateral CNV secondary to Best's disease in a long-term follow-up.

Aims: To measure macular choroidal thickness in healthy and glaucomatous eyes using spectral-domain scanning laser ophthalmoscopy/optical coherence tomography. Methods: Choroidal thickness was measured in 21 healthy eyes and 16 glaucomatous eyes. Choroidal thickness was measured under the fovea and at 500-µm intervals from the foveal center to 4 mm in the nasal and temporal directions. Vessels were counted in a macular area of 8,000 µm2. Only choroidal vessels with a horizontal diameter of at least 155 µm and a vertical diameter of at least 50 µm were considered. Results: The mean choroidal thickness was greatest below the fovea, i.e. 343.8 µm (SD ±29.06) in controls and 411.56 µm (SD ±33.60; p < 0.001) in the glaucomatous group. The mean vertical diameter was significantly greater (p = 0.008) in glaucomatous eyes (112.18 ± 37.64 µm) than in healthy eyes (103.98 ± 25.67 µm), whereas the luminal area of vessels was significantly larger (p = 0.3) in glaucomatous eyes (39,157.34 ± 21,657.23 µm2) than in healthy eyes (43,779.84 ± 22,874.87 µm2). Conclusions: We show that choroidal thickness is increased in glaucomatous eyes due to an increase in both the vertical diameter and the luminal area of the vessels. This seems to implicate the choroid in the pathogenesis of open-angle glaucoma.

Purpose: This study evaluated the rate of change of best corrected visual acuity (BCVA), central retinal sensitivity, and retinal and choroidal thickness in patients with macular edema after intravitreal bevacizumab. Methods: This was a prospective, nonrandomized, interventional study. Thirty-four consecutive eyes (34 patients) with macular edema were included in the study. Choroidal neovascularization was present in 21 cases, stage 1 retinal angiomatous proliferation in 6 cases, branch retinal vein occlusion in 4 cases, and diabetic edema in 3 cases. Evaluation of BCVA (Early Treatment Diabetic Retinopathy Study [ETDRS] logarithm of the minimum angle of resolution [LogMAR]), central retinochoroidal thickness (RCT) at standardized A-scan, combined optical coherence tomography/microperimetric assessment of central retinal thickness (RT), central scotoma, and fixation behavior was performed during 12 months after treatment. Choroidal thickness was considered as the difference between RCT and RT. All patients received two initial intravitreal bevacizumab injections (1.25 mg/0.05 mL) at a 1-month interval. Results: BCVA and RT during follow-up were significantly better than at baseline. BCVA was improved of 0.32 +/- 0.3 LogMAR (P < 0.001) at month 1,0.18 +/- 0.4 LogMAR (P = 0.05) at month 6, and 0.14 +/- 0.2 (P = 0.09) at month 12. RT was reduced by 172.9 +/- 192.8 mu m (P < 0.001) at month 1,157.7 +/- 134.2 mu m (P = 0.003) at month 6, and 164.3 +/- 122.3 (P = 0.002) at month 12. Mean retinal sensitivity significantly increased during the first month; it decreased afterward, but an improvement if compared with baseline was present at each visit during follow-up. In 23.5% of cases, a choroidal thinning was present during follow-up, and in this group visual acuity at baseline and final visual improvement were significantly greater if compared with patients showing a choroidal thickening. Conclusion: Intravitreal bevacizumab for macular edema determines significant functional and anatomic improvement at the 12-month follow-up. Visual acuity at baseline and following treatment could be influenced by the choroidal involvement.

Aim: To evaluate the prevalence, progression and functional predictive value of retinal micropseudocysts (MPCs) in diabetic patients. Methods: Prospective controlled observational study. From among all the type 2 diabetic patients evaluated during a period of 5 months between September 2009 and January 2010, we enrolled all patients with retinal MPCs at spectral-domain scanning laser ophthalmoscope/optical coherence tomography (SD-SLO/OCT) not previously treated for diabetic retinopathy. Forty diabetic patients without MPCs served as the control group. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), macular sensitivity and stability of fixation at SD-SLO/OCT microperimetry were measured monthly for 12 months. Results: 22/156 patients with type 2 diabetes (14.1%, 32 eyes) met the inclusion criteria. The 95% confidence interval for the prevalence estimate of MPCs was 12.3–16.6%. Mean BCVA, CRT and central retinal sensitivity at baseline were 77.53 ± 2.2 Early Treatment Diabetic Retinopathy Study letters, 242.31 ± 31.0 µm and 15.95 ± 0.61 dB, respectively. Fixation was stable in all cases. Compared to the control group, eyes with MPCs had similar BCVA but greater CRT (p = 0.01) and reduced macular sensitivity (p = 0.001) at baseline and at each follow-up visit. Over time, CRT remained stable in eyes with MPCs, whereas macular sensitivity progressively decreased. Conclusion: MPCs in diabetic retinopathy are associated, temporally or causally, with a progressive reduction of macular sensitivity despite a stable BCVA, CRT and fixation.

Acta Ophthalmol. 2010: 88: e305–e310 Abstract. Purpose: To evaluate best-corrected visual acuity (BCVA) and foveal thickness (FT) changes in occult subfoveal choroidal neovascularization (CNV) from age-related macular degeneration (AMD) after intravitreal bevacizumab (IVB, 1.25 mg/0.05 ml), pegaptanib (IVP, 0.3 mg/0.09 ml) and triamcinolone acetonide (IVTA, 4 mg/0.1 ml) injected on an as needed basis. Methods: Retrospective, interventional, comparative study. BCVA (Early Treatment Diabetic Retinopathy Study LogMAR) and FT by optical coherence tomography (OCT) were evaluated during 12 months from first treatment. Patients were retreated if signs of neovascular activity were still present on angiography or OCT. Results: Forty-eight eyes received IVB, 43 eyes received IVP, 52 eyes received IVTA. BCVA and FT at baseline were 1.22 ± 0.49 LogMAR and 410.2 ± 41.83 μm in the IVB group, 1.25 ± 0.43 LogMAR and 452.3 ± 44.83 μm in the IVP group and 1.31 ± 0.4 LogMAR and 456.6 ± 48.27 μm in the IVTA group. BCVA and FT improved in the three groups during follow-up. A significantly greater improvement of BCVA was present at month-3, month-6 and at month-12 in the IVB and IVP groups (p = 0.01). Improvement of FT was greater in the IVTA group at month-3 (p = 0.02), while it was greater in the anti-Vascular Endothelial Growth Factor (VEGF) groups at month-6 and month-12 (p = 0.01). A postoperative increase of intraocular pressure was detected in 9/52 (17.3%) eyes treated with IVTA, and in two cases it was resistant to topical therapy. Conclusion: Intravitreal injection of anti-VEGF drugs administered on an as needed basis for AMD-related occult CNVs provided functional and anatomic improvement during 12 months of follow-up.

Objective: To evaluate the early rate of change of best-corrected visual acuity (BCVA), central retinal sensitivity, neuroretinal and choroidal thickness in patients with macular edema after 1.25 mg/0.05 ml intravitreal bevacizumab (Avastin; Genentech, Inc., South San Francisco, CA). Methods: A prospective, nonrandomized, interventional study. Thirty-seven consecutive eyes with macular edema were included in the study. For all eyes, BCVA, central retinochoroidal thickness at standardized A-scan, central retinal thickness, and central retinal sensitivity recorded with a spectral scanning laser ophthalmoscope optical coherence tomography/microperimeter device were evaluated at baseline and 7, 15, 30, 37, 45, and 60 days after initial treatment. All patients received 2 intravitreal bevacizumab injections at 1-month interval. Results: A significant although not related improvement of BCVA and retinal sensitivity was seen after 1 month and 2 months of follow-up. Anatomic improvement only involved the neuroretina, although significant changes of central choroidal thickness were not detected. Conclusion: Intravitreal bevacizumab for macular edema determines significant early functional and anatomic improvements.

Purpose To evaluate eyes affected by morning glory syndrome (MGS) with spectral-domain optical coherence tomography (SD OCT) and echography. Design Prospective case series. Participants Nineteen patients (22 eyes) with MGS observed at the Eye Department, University of Naples Federico II, Naples, Italy. Methods All patients underwent a complete ophthalmologic examination that included best-correct visual acuity, fundus photography, and echography. Nine patients underwent SD OCT and high-frequency B-scan echography (20 MHz). Main Outcome Measures Spectral-domain optical coherence tomography and echographic findings in MGS. Results Spectral-domain optical coherence tomography revealed retinal detachment in the conus area of 5 eyes: 4 with noncontractile MGS (NCMGS) and 1 with contractile MGS (CMGS). There was evidence of a retinal break in only 2 cases. All 5 eyes had an abnormal communication between the subarachnoid space and the subretinal space. Spectral-domain optical coherence tomography did not reveal differences between CMGS and NCMGS. Echographic examination did not reveal any anatomic abnormalities of the optic nerve or orbit. Conclusions Spectral-domain optical coherence tomography provides more information than echography about the posterior pole, whereas echographic examination is the only technique that can confirm the anatomic integrity of the optic nerve in the orbital wall. Retinal detachment in MGS generally is ascribed to abnormal communication between the subretinal and subarachnoid or vitreous compartments. These data suggest that myopialike retinal detachment without a retinal break may result from tissue stretching around the peripapillary conus. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

PURPOSE: To compare retinal thickness and volume measurements obtained with Stratus time domain optical coherence tomography (OCT) and spectral domain scanning laser ophthalmoscope OCT (SD-SLO/OCT). METHODS: In a cross-sectional study, 52 eyes with a normal macula, 30 eyes with retinal oedema, and 10 eyes with a myopia higher than 6 D have been evaluated with both time domain OCT (TD-OCT, Stratus OCT, Carl Zeiss Meditec, USA) and SD-SLO/OCT (OTI, Toronto, Canada). Retinal thickness and volume measurements in the nine areas of the 6-mm ETDRS ring were compared. Artefacts were defined as the discordance between the automatically detected anterior and posterior retinal boundaries and the boundaries detected by the examiner. RESULTS: Artefacts were more frequent with TD-OCT (35 vs26%). Mean retinal thickness was significantly higher with SD-SLO/OCT by 30.1 microm (+/-25.8) (P=0.003) in presence of the artefacts and by 39.2 microm (+/-25.8) (P=0.003) after their exclusion. The correlation between the two retinal thickness data sets before exclusion of the artefacts (r=0.59, P

A 16-year-old girl with Parry–Romberg syndrome presented with monolateral exudative neuroretinitis and retinal telangiectasis that had been observed for 42 months. She was treated with immunosuppressive therapy with A-cyclosporine for 1 year, followed by laser treatment of telangiectasis. Her visual acuity improved from 20/200 to 20/70 in 1 year with a reduction of neuroretinal exudation. Laser treatment resulted in a further improvement of visual acuity to 20/40. Clinical findings remained unchanged during 2 years of follow-up. The association of immunosuppressive treatment and laser therapy may improve neuroretinal disease in the presence of Parry–Romberg syndrome.

Background In vitreomacular traction syndrome, an incomplete vitreous detachment with persistent vitreous traction on the macula is present. This condition may determine formation of epiretinal membranes, macular puckering, macular oedema, and traction macular detachment. Recently introduced en face optical coherence tomography (OCT) provides not only longitudinal B-scan but also coronal C-scan images of the retina. Methods Fifteen eyes of 11 non-diabetic patients presenting vitreomacular traction syndrome have been evaluated with en face OCT (OTI, Toronto, Ontario, Canada). Results In 12 eyes, cystoid macular oedema was detectable at fundus examination and was associated with a broad-based adherence of the posterior hyaloid to the macula. In three eyes, foveal detachment appeared to be associated with focal foveal vitreoretinal traction. In all eyes, the lateral extent of the hyaloidal tractions on the macula was clearly detectable at coronal C-scan. They appeared as sigmoid hyper-reflective bands in the hyporeflective vitreous chamber. Overlay of C-scans on red-free confocal images allowed the visualization of the edges of the adherences in relation to the structures of the posterior pole. Conclusions The C-scan images allowed clear visualization of the total extension of the posterior vitreomacular adherences and their relationships with the vascular arcades, the optic disc, and the fovea.

Background: Congenital aberrant macular vessels are rare and may cause visual impairment when crossing the fovea, when causing the formation of foveolar cysts, or when haemorrhage occurs. Methods: From the records of patients with vascular anomalies seen at the Retina Department of the University Federico II in Naples from 1980 to 2005, we reviewed all cases presenting an abnormal, large, retinal vessel crossing the macular region. Results: An anomalous macular macrovessel was present in 13 cases. Follow-up ranged from 3 months to 21 years (mean 14 years). In all cases the abnormal vessel was a vein, presenting a fluoroangiographic early filling and delayed emptying. In some cases there were microvascular bed anomalies, such as enlargement of the foveal avascular zone, focal capillary dilation, or microaneurysmal abnormalities. In one case late, mild, intraretinal staining along the anomalous vessel indicated retinal oedema. Visual impairment occurred in five eyes, being caused by a preretinal haemorrhage in one case and by the mere presence of the macrovessel in the foveal area in four cases, and had not improved at following controls. Conclusion: In the presence of an aberrant vessel crossing the macular region, visual acuity and ophthalmoscopic and fluoroangiographic findings tend to have remained stable at long-term follow-up.

AN 18- YEAR-OLD healthy white man reported a sudden decrease in central visual acuity in his right eye after physical exertion, probably combined with a Valsalva maneuver, while repairing his car. He did not report other symptoms and was not taking systemic medications. Best-corrected visual acuity was 20/600 OD and 20/20 OS. Anterior segment examination and intraocular pressures were normal. Ophthalmoscopic examination of the right eye disclosed the presence of an anomalous retinal vein extending along the papillomacular bundle through the foveal avascular zone and temporally. A preretinal hemorrhage overlaid the fovea and partially obscured the underlying a nomalous r etinal v ein (Figure 1). Fluorescein angiography of the right eye demonstrated blocked fluorescence from this preretinal hemorrhage (Figure 2). No evidence of choroidal neovascularization was observed. On follow-up examination 5 weeks later, the visual acuity had improved to 20/20 OD. The preretinal hemorrhage had completely resorbed, allowing examination of the underlying retinal vasculature. Fluorescein angiography at this time disclosed the anomalous vein crossing over the foveal avascular zone, and the vein appeared normal on angiographic examination (Figure 3 and Figure 4). There is no evidence of an arteriovenous anastomosis or late leakage.

A case of choroidal osteoma presenting in a 22-year-old girl is reported. The tumour, unilateral and in a juxtapapillary site, appeared markedly elevated on the retinal plane, not flat or slightly elevated as in previous reports. Visual acuity was not affected, and there was a complete absence of subjective symptoms. Echography, fluorangiography, computerised tomography, and visual field tests were performed. Echography is the best method for identifying and differentiating this lesion from a malignant tumour.

Type II tyrosinemia (Richner-Hanhart syndrome) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-plantar hyperkeratosis, no constant mental changes with mental deterioration, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country. We report a family with 2 affected members with typical clinical and biochemical findings (keratitis, palmo-plantar hyperkeratosis, abnormal urinary and serum tyrosine concentrations), not suffering from mental retardation. Clinical symptoms completely disappeared after the decrease of urinary and serum tyrosine levels following a tyrosine- and phenylalanine-free diet. These cases are compared with those reported in literature, and the usefulness of diet for the improvement of clinical and metabolic symptoms is discussed.

Four cases of macular ectopia are described. Pseudostrabismus, caused by an increased angle alpha, is only one of the signs common to macular ectopia. A correct diagnosis is of fundamental importance because the treatment of macular ectopia is different from that of strabismus.

A case of bilateral multiple pigment epithelium detachments in a 36 year old man is reported. The value of E.R.G., E.O.G. and fluorescein angiography in the differential diagnosis between multiple serous detachments of the pigment epithelium and multiple vitelliform degeneration is stressed.

The authors describe a case of congenital retinal macrovessel with decreased visual acuity. Ophthalmoscopy and fluorescein angiography showed the malformation to be congenital and benign.

The genetic, clinical, and metabolic studies of two familial cases of Richner-Hanhart syndrome (type II hypertyrosinemia are described and the findings compared with other familial cases of palmo-plantar keratoderma. The clinical pictures are identical except that in the latter there are not ocular symptoms and the tyrosine levels are not raised. One of the two patients examined was treated with a diet low in tyrosine and phenylalanine with immediate improvement in clinical symptomatology and complete disappearance of the dendritic keratitis.

The authors describe a young patient with herpes zoster and discuss the etiopathogenesis of the complications which included unilateral inferior altitudinal hemianopsia, Argyll Robertson pupil and dendritic keratitis.

The standard X-ray preserves its value in verifying the presence of a foreign body (FB). The echography is valuable in verifying the site of a FB when it remains uncertain in respect to the sclera after X-ray localization. Computerized tomography scanning offers useful information about the physical nature of the FB.

PURPOSE. TO assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). METHODS. Eleven families from southern Italy, including 18 patients with diagnoses of STGD1, were clinically examined. Ophthalmologic examination included kinetic perimetry, electrophysiological studies, and fluorescein angiography. DNA samples of the affected individuals and their family members were analyzed for variants in all 50 exons of the ABCR gene by a combination of single-strand conformation polymorphism analysis and direct sequencing techniques. RESULTS. Ten ABCR variants were identified in IG (73%) of 22 mutant alleles of patients with STGD1. Five mutations of 10 that were found had not been previously described. The majority of variants represent missense amino acid substitutions, and all mutant alleles resegregate with the disease in the respective families. These ABCR variants were not detected in 170 unaffected control individuals (340 chromosomes) of Italian origin. Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. CONCLUSIONS. Patients from southern Italy with Stargardt disease show extensive allelic heterogeneity of the ABCR gene, concordant with previous observations in patients with STGD1 from different ethnic groups. Half the mutations identified in this study had not been previously described in patients with STGD1. Screening of increasingly large numbers of patients would help to determine whether this can be explained by ethnic differences, or is an indicator of extensive allelic heterogeneity of ABCR in STGD1 and other eye diseases. in 6 (55%) of 11 families, the first-degree relatives of patients with STGD1 were diagnosed with early AMD, supporting the previous observation that some STGD1 alleles are also associated with AMD.

A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found.

The authors have evaluated with three-dimensional (3D) spectral domain optical coherence tomography (SD-OCT) four highly myopic eyes (2 patients) presenting with peripapillary detachment of the pigment epithelium (PDPM), vitreoretinal tractions, and myopic retinoschisis. Three-dimensional SD-OCT analysis of PDPM revealed an optically empty space localized beneath the retinal pigment epithelium (RPE). A peripapillary separation of the retina-RPE complex from the choroid could explain the presence of this space. The 3D imaging of vitreomacular tractions could help physicians plan the appropriate surgical approach in patients with myopic posterior detachment due to macular hole. [Ophthalmic Surg Lasers Imaging 2009;40:304-307.]

Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of Marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. Electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion.