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Aim: 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., Methods: 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., Results: 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., Conclusions: 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., (© 2018 S. Karger AG, Basel.)

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., (© 2018 S. Karger AG, Basel.)

Purpose: To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies., Design: Prospective observational comparative case series., Methods: Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. All patients underwent angio-OCT. The scans were centered on optic discs., Results: The mean age at presentation was 33 years (range: 19-50 years). Congenital optic disc anomalies were identified in all 15 eyes. Three eyes had the characteristic funduscopic signs of MGS, and angio-OCT scans of the peripapillary retina revealed a dense microvascular network. Optic disc colobomas were found in 5 eyes, and the characteristic funduscopic signs of optic pits were found in 7 eyes. Angio-OCT showed the absence of a radial peripapillary microvascular network in these 12 eyes., Conclusion: The finding that angio-OCT scans confirmed the presence of a peripapillary microvascular network only in MGS cases supports the hypothesis that a primary neuroectodermal abnormality and a secondary mesenchymal abnormality leads to MGS. Angio-OCT is a safe, rapid imaging technique that could shed light on the pathogenesis of rare diseases of the optic disc., (Copyright © 2016 Elsevier Inc. All rights reserved.)

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., (© 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Aims: The aim was to compare the efficacy of intravitreal therapy with bevacizumab and ranibizumab for choroidal neovascularization (CNV) in pathologic myopia (PM)., Methods: This was a prospective multicenter randomized nonblinded trial., Results: In seven centers, 78 eyes were randomized 1:1 to treatment with bevacizumab (group B, 40 eyes) or ranibizumab (group R, 38 eyes) given with an "on demand" regimen (PRN). The mean follow-up was 19 months (SD 2, range 12-24). The mean BCVA at baseline was 0.60 logMAR (20/80 Snellen equivalent, Seq) and 50 letter score (ls). Mean final BCVA was 0.51 LogMAR (20/63 Seq) and 57 ls (p = 0.0009 and p = 0.0002, respectively). In group B, mean basal BCVA was 0.52 logMAR (20/63 Seq) and 54 ls, and final BCVA was 0.51 logMar (20/63 Seq) and 57 ls. In group R, mean basal BCVA was 0.62 logMAR (20/80 Seq) and 45 ls, and the final values were 0.50 logMAR (20/63 Seq) and 58 ls. Statistical comparison of the two groups showed no significant difference (logMAR p = 0.90 and letters p = 0.78). Multivariate analysis showed no influence of age or previous photodynamic treatment (PDT) on final visual changes. The mean number of treatments in the first year was 2.7 in group B and 2.3 in group R (p = 0.09)., Conclusion: Myopic CNV equally benefits from on-demand intravitreal injection of either bevacizumab or ranibizumab; the therapeutic effect is independent of previous PDT and age.

Objective: To evaluate the efficacy of high-speed Fourier-domain optical coherence tomography (FD-OCT) and fundus microperimetry (MP-1) in identifying the anatomic and functional features of ischemic diabetic maculopathy., Design: Prospective noninterventional study., Participants: Forty-two consecutive eyes (23 patients) with ischemic diabetic maculopathy and 40 normal eyes (25 control subjects) were included in this study., Methods: Best corrected visual acuity, ganglion cell complex (GCC) thickness measured with FD-OCT, and central light sensitivity recorded with MP-1 were evaluated., Results: GCC thickness and light sensitivity were significantly reduced in all affected eyes versus control eyes. logMAR BVCA was significantly correlated with mean macular sensitivity (R=0.783, R(2)=0.611)., Conclusions: GCC thickness and microperimetry integrated with fluorescein angiography could be a marker of retinal vascular abnormalities that is useful for the diagnosis of ischemic diabetic maculopathy., (Copyright © 2015 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.)

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) (p<0.05). Also, BCVA was significantly improved in both groups of patients (p<0.05)., Conclusions: 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 well-defined areas of atrophy of the retinal pigment epithelium (RPE)., Conclusions: This case report emphasizes the role of the RPE in the pathogenesis of APMPPE.

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., (© 2013 S. Karger AG, Basel.)

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 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<0.001). In the treatment group, a greater retinal sensitivity was present at month 12, month 24, and month 36 (p=0.001). No side effects of treatment were observed., Conclusion: Oral administration of flavonoids, C. asiatica and Melilotus, in patients with CME without macular thickening provided preservation of retinal sensitivity during 36 months of follow up when compared with untreated patients.

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 µm(2). 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 µm(2)) than in healthy eyes (43,779.84 ± 22,874.87 µm(2))., 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., (Copyright © 2012 S. Karger AG, Basel.)

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., (Copyright © 2011 S. Karger AG, Basel.)

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 < 0.001). Five eyes in the study group showed disappearance of the intraretinal cysts after a mean time of 3.5 ± 0.3 months, which persisted in the following months. These 5 eyes presented a greater RS at each follow-up visit when compared with the control group (P < 0.05). Anatomic improvement was never reported in the control group., Conclusions: The orally administered combination of flavonoids, C. asiatica, and Melilotus could be beneficial in preserving RS in diabetic CME without macular thickening.

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., (© 2010 The Authors. Acta Ophthalmologica © 2010 Acta Ophthalmologica Scandinavica Foundation.)

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., (Copyright 2010. Published by Elsevier Inc.)

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.

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.

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.

Purpose: To evaluate a large series of patients affected by high myopia using multiplanar imaging provided by en face optical coherence tomography (OCT)., Design: Observational cross-sectional study., Methods: En face OCT longitudinal cross-sectional B scans and coronal C scans were obtained in 200 eyes of 100 patients with myopia greater than -6 diopters and evidence of posterior staphyloma at fundus examination and at ultrasound B-scan evaluation., Results: A macular hole was present in three eyes (1.5%). We detected posterior retinal detachment in 37 cases (18.5%). In 15 eyes (7.5%) detachment was associated with a macular hole. In the remaining 22 eyes (11%), the detachment was located in the area of the staphyloma, and was associated with vitreoretinal traction in four eyes (18.2%) of 22 eyes. There was evidence of detachment of the internal limiting membrane (ILM) in 12 eyes (6%) and retinoschisis in 27 (13.5%) of 200 eyes. Retinal vascular microfolds were detected in 40 eyes (20%), and occurred in all cases of peripapillary retinal detachment, ILM detachment, and retinoschisis. Paravascular microcysts occurred in three eyes (1.5%), and peripapillary detachment of the pigment epithelium in 10 eyes (5%)., Conclusions: En face OCT provides accurate imaging of retinal abnormalities in high myopia and allows width measurement and point-to-point localization of alterations. Thus, it can represent a noninvasive way to detect minimal changes during follow-up. Posterior detachment in the absence of a macular hole seems to be related to vitreoretinal traction, staphyloma, and inward forces exerted by rigid retinal vessels and ILM. En face OCT-assisted surgery of macular holes could help to plan removal of premacular tractional structures.

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.

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 serologic 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.

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: TenABCR variants were identified in 16 (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 cosegregate 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.

The authors present a case of ataxia-telangiectasia also known as Louis-Bar Syndrome. The rarity of the disease and the dearth of extensive literature about the subject submitting this particular case to optic and electronic study and to report the results. The description, that comes out from our histologic and submicroscope study of the conjunctiva, attests the change of the conduct, of the diameter and conjunctival flow of the microvessels. This, in turn touches upon the cytological question behind the cause of changes in the relationships of vessels and surrounding tissues.

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.

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 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.