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Purpose To report and investigate proptosis in a young girl with Noonan syndrome.Methods Observational case report.Results A 16-year-old girl affected by Noonan syndrome underwent a complete ophthalmological examination showing bilateral proptosis with hypofunction of lateral rectus and superior oblique muscles. Visual acuity, color discrimination and fundus examination were unremarkable. The orbital MRI showed bilateral proptosis and symmetrical enlargement of extraocular muscles, with bellies thickening and tendon sparing. The young patient also complained restrictive hypertrophic cardiomyopathy.Conclusions Proptosis is an uncommon ocular manifestation of Noonan syndrome and its pathophysiology has never been clarified. The MRI evidence of extraocular muscles enlargement associated with hypertrophic cardiomyopathy, led us to hypothesize a common altered pathway beneath these features, more specifically the MAP kinase pathway, since extraocular and cardiac muscles share a mesenchymal embryological origin.

Background: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAGand GRK1genes. The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAGgene.Materials and methods: A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing.Results: Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the SAGgene: NM_000541.5:c.807delA p.(Glu270Lysfs*9) and NM_000541.5:c.1047-1G>C confirming the diagnosis of Oguchi disease.Conclusions: We identified the first Italian compound heterozygous patient harboring two novel alterations in the SAGgene (a frameshift deletion and a splicing variant). The involvement of the SAGgene in Oguchi disease is a common finding in Japanese population, but rarely identified in Caucasians. Clinical suspicion should prompt the molecular analysis of genes associated with this condition.

Objectives: To investigate the real-life experience of patients affected by neovascular age-related macular degeneration (nAMD), in the healthcare pathway for the management of the disease, using a “patient journey” and narrative method approach. Methods: The patient journey of subjects affected by nAMD was designed using a process-mapping methodology involving a team from 11 Italian centres. Subsequently, narratives were collected from nAMD patients and family members. The interviews were analyzed using the narrative medicine methodology. Results: Eleven specialized retina centres across Italy were involved and 205 narratives collected. In 29% of cases, patients underestimated their symptoms or attributed them to non-pathological causes, thus delaying the specialist consultation. The delay in accessing to care was due to a lack of awareness of this disease (50% of the participants didn’t know what nAMD is) and to critical issues faced at first visit (long waiting lists, failed diagnosis, underestimation of the problem). Despite anti-VEGF therapies were perceived as effective in improving or stabilizing vision in 91% of narratives collected, 77% of patients still reduced or ceased daily activities such as reading and driving. Within the pathway of care there was not a multidisciplinary approach, and the patients were treated just by the ophthalmologist. Conclusions: nAMD may significantly affect the quality of life of affected patients, both from a functional and psychological point of view. The narrative medicine approach highlights some critical points in the healthcare journey of nAMD patients and represents a useful background in implementing patient management algorithms and pathways of care.

Background/objectives: To compare the number of eye surgical procedures performed in Italy in the 2 months following the beginning of lockdown (study period) because of COVID-19 epidemic with those performed in the two earlier months of the same year (intra-year control) and in the period of 2019 corresponding to the lockdown (inter-year control).Methods: Retrospective analysis of surgical procedures carried out at 39 Academic hospitals. A distinction was made between elective and urgent procedures. Intravitreal injections were also considered. Percentages for all surgical procedures and incidence rate ratios (IRR) for rhegmatogenous retinal detachment (RRD) events were calculated. A pvalue <0.05 was considered significant.Results: A total of 20,886 versus 55,259 and 56,640 patients underwent surgery during the lockdown versus intra-and inter-year control periods, respectively. During the lockdown, only 70% of patients for whom an operation/intravitreal injection was recommended, finally underwent surgery; the remaining patients did not attend because afraid of getting infected at the hospital (23%), taking public transportation (6.5%), or unavailable swabs (0.5%). Elective surgeries were reduced by 96.2% and 96.4%, urgent surgeries by 49.7% and 50.2%, and intravitreal injections by 48.5% and 48.6% in the lockdown period in comparison to intra-year and inter-year control periods, respectively. IRRs for RRDs during lockdown dropped significantly in comparison with intra- and inter-year control periods (CI: 0.65–0.80 and 0.61–0.75, respectively, p< 0.001 for both).Conclusion: This study provides a quantitative analysis of the reduction of eye surgical procedures performed in Italy because of the COVID-19 epidemic.

PurposeTo investigate and quantify peripapillary vascular and neuronal changes secondary to diabetic retinopathy, using spectral-domain optical coherence tomography (OCT) and OCT angiography (OCTA).DesignThis was a cross-sectional study.Methods51 eyes of 51 patients affected by non-proliferative diabetic retinopathy (NPDR) and 19 age-matched healthy control eyes underwent full ophthalmic examination, including OCT and OCTA in the peripapillary area. Vessel area density (VAD), vessel length fraction (VLF) and vessel diameter index (VDI) were quantified in a ring-shaped region of interest of each OCTA image. Capillaries and larger vessels were separately analysed. The thickness of the peripapillary retinal nerve fibre layer (pRNFL) and macular ganglion cell complex (GCC) was also analysed.ResultsVAD and VLF of peripapillary capillaries were significantly reduced in NPDR eyes, along with the progression of NPDR (p<0.05). VDI was significantly reduced in mild (p=0.0093) and moderate (p=0.0190) NPDR eyes, but not in severe NPDR (p=0.0841). Larger peripapillary vessels showed a significant increase of both VAD and VDI in NPDR eyes. pRNFL and GCC thickness decreased in NPDR eyes, reaching statistical significance only for GCC. No statistically significant correlation was found between perfusion parameters and pRNFL and GCC thickness.ConclusionsRetinal capillary remodelling in NPDR involves the peripapillary vascularisation too, as confirmed by OCTA quantitative parameters. The peripapillary macrovasculature and microvasculature need to be separately evaluated. The lack of direct correlation between peripapillary capillaries changes and the loss of retinal nerve fibres suggests that neuronal damage cannot be simply considered secondary to the microvascular one.

To report new multimodal imaging findings, including fundus autofluorescence and optical coherence tomography, in an 18-year-old girl affected by Jeune syndrome-associated retinal dystrophy.

Purpose: To compare the final diagnosis of the causes of low vision in children attending a tertiary rehabilitation centre for visually impaired children versus referral diagnosis.Methods: Retrospective review of clinical charts of all children referred to the Robert Hollman Foundation, a tertiary centre for visually impaired children, between January 2010 and June 2011. The following clinical data were analysed: entry diagnosis made by the referral ophthalmologist and final diagnosis made at Robert Hollman Foundation based on a complete ophthalmic evaluation.Results: Ninety-two consecutive children (mean age = 2.37 ± 1.98 years, range = 0–9) were included. A referral diagnosis was retrieved in 76 cases (82.6%), including cerebral visual impairment (14.1%), retinopathy of prematurity (14.1%), hereditary retinal diseases (10.9%), nystagmus (8.7%) and other rarer diseases (34.8%). In the remaining 16 children (17.4%), a precise referral diagnosis was unavailable. Final clinical diagnosis made at Robert Hollman Foundation was normal visual function in 8.7%, cerebral visual impairment in 30.4%, retinopathy of prematurity in 10.9%, hereditary retinal disease in 9.8% and other in 40.2%. In 17 cases (18.5%), the diagnosis made at the Robert Hollman Foundation did not confirm the entry diagnosis. Among patients where measurement of visual acuity was possible (84), 66.7% were blind or seriously visual impaired, and the main causes were cerebral visual impairment (32.1%) and retinopathy of prematurity (16.1%).Conclusion: The most frequent diseases were cerebral visual impairment, retinopathy of prematurity and hereditary retinal diseases. Approximately one-third of referred children had not a correct diagnosis at baseline. The activity of an ophthalmic tertiary centre is essential to offer a precise diagnosis to visually impaired (sometimes with other deficits) children.

Aim: The aim of this study is to evaluate the efficacy of pupil cerclage and a new variant of sliding knot technique for repairing traumatic mydriasis.Design: This is a observational case series study.Setting/methods: A series of consecutive patients affected by traumatic permanent mydriasis who underwent pupil cerclage were recruited at the Department of Ophthalmology of the University of Padova, Italy. Best-corrected visual acuity, measured in logarithm of minimum angle of resolution (logMAR), and intraocular pressure at 1, 3, 6, and 12 months were monitored. Postoperative pupil size and anterior chamber angle were measured. Postoperative cystoid macular edema (CME) and glaucoma were evaluated.Results: Twelve patients were recruited. Phakic patients (7) underwent cataract surgery combined with pupil cerclage. Vitrectomy was performed in nine patients. Best-corrected visual acuity improved from 2.9 ± 1.1 logMAR at baseline to 0.3 ± 0.8 logMAR at 12th month. No significant difference between the preoperative and postoperative intraocular pressure was demonstrated. Mean pupil size at 12th month was 2.82 ± 0.5 mm with round shape. Anterior chamber angle mean was 47° ± 4.5°. Six patients developed a CME, and two patients a glaucoma.Conclusion: Pupil cerclage technique reestablishes the pupil with a precise regulation of the pupil size without distortion of its natural round shape. New sliding knot allows surgeon to reduce the risk of iatrogenic iris damage and to make a security permanent knot.

PurposeTo evaluate, by means of optical coherence tomography (OCT) and OCT angiography (OCTA), early retinal, choroidal and macular perfusion changes induced by a local inflammatory reaction secondary to uncomplicated cataract surgery.MethodsSelected eyes undergoing cataract surgery were enrolled in a prospective study. OCT and OCTA were performed before cataract surgery (T0) and at day: 1 (T1), 7 (T7), 30 (T30) and 90 (T90). Inner (IR) and outer retinal (OR) volumes, choroidal volume, hyper-reflective retinal spots (HRS) in IR and OR changes were measured at OCT. Macular perfusion was analysed in superficial (SCP), intermediate (ICP) and deep retinal capillary plexuses (DCP).ResultsNine eyes of nine selected patients were consecutively enrolled. Mean IR volume changed after surgery (p=0.0001), increasing progressively from 4.391±0.231 mm3at T0 to 4.573±0.241 mm3at T30, p=0.0002. Both mean OR and choroidal volume increased, mainly at T30, but not significantly (p=0.4360 and p=0.2300, respectively). Mean HRS changed during follow-up, increasing at first in IR and later in OR (at T1 and T7, respectively, both p<0.0001). Macular ICP and DCP perfusion increased at T1, whereas macular SCP perfusion did not change. At T90, all OCT and OCTA parameters had almost reached baseline levels.ConclusionsThe increase of HRS at first in IR and later in OR seems to confirm their inflammatory nature. Early OCTA changes (underline) underscore a selective susceptibility of DCP and ICP to a localised inflammatory reaction induced by cataract surgery.

AimsTo investigate, with optical coherence tomography angiography (OCTA), short-term changes of type 1 choroidal neovascularisation (CNV), secondary to exudative age-related macular degeneration, after anti-vascular endothelial growth factor (VEGF) treatment.MethodsPatients affected by type 1 CNV treated with intravitreal anti-VEGF were consecutively enrolled. All patients underwent OCTA examination before and 48 hours after anti-VEGF treatment. Quantitative and qualitative vascular and morphological macular changes were evaluated.ResultsSixteen eyes were included (11 treated with aflibercept and 5 with ranibizumab). Both CNV mean area and pigment epithelium detachment significantly reduced (p=0.0004 and p=0.0007, respectively) after treatment. Cystoid macular oedema (four eyes) decreased in all cases. Neuroretinal detachment (13 eyes) decreased in 85% of cases (11 eyes). Fine CNV vessels density decreased in 75% (12 eyes), whereas larger CNV vessels density remained stable in 66.7% (10 eyes), choroidal flow void signal (7 eyes at baseline) increased in 42.9% (3 eyes) of them and remained stable in 57.1% (4 eyes). Interoperator reproducibility for OCT examination was good for all measurements (intraclass correlation coefficient>0.65).ConclusionEarly remodelling of type 1 CNV network after treatment may be non-invasively and reproducibly analysed by means of OCTA. Choroidal perfusion impairment, choroidal flow void signal, surrounding CNV may change during treatment.

To investigate the pathophysiologic interrelations between retinal neural and vascular changes, detected by spectral-domain OCT (SD-OCT) and OCT angiography (OCTA), resulting from optic nerve axonal degeneration.

AimsTo investigate peripapillary vascular changes secondary to radiation optic neuropathy (RON) using optical coherence tomography angiography (OCT-A) and to propose a clinical grading of RON based on OCT-A findings.MethodsThirty-four patients affected by RON were consecutively included. Each patient underwent best corrected visual acuity measurement (ETDRS score) and OCT-A (Nidek RS-3000 Advance device, Nidek, Gamagori, Japan). The radial peripapillary capillary plexus (RPCP) and the entire peripapillary capillary bed (EPCB) were analysed. Quantitative analysis of the OCT-A images was performed using open-source available ImageJ software (National Institutes of Health, Bethesda, Maryland, USA). Qualitative analysis based on the proposed clinical grading (Grades 0–4) was also performed by two masked graders.ResultsRON clinical (qualitative) classification based on RPCP correlated with the quantitative RPCP perfusion analysis (P=0.0001). RON clinical classification based on RPCP statistically correlated with ETDRS score (P=0.001). RON clinical classification based on EPCB also correlated with the quantitative EPCB perfusion analysis and ETDRS score (P=0.02 and P=0.01, respectively). Compared with the clinical classification based on EPCB, the qualitative classification based on RPCP reached a higher intergrader agreement (0.96 and 0.86, respectively).ConclusionOCT-A can be used to detect RPCP abnormalities and to clinically classify RON with a high interexaminer agreement. The proposed clinical classification is supported by the quantitative analysis based on the use of specific images elaboration techniques and correlates with visual acuity of the examined eyes.

AimsTo report long-term clinical outcome of topical 1% 5-fluoruracil (5-FU) as a sole treatment of ocular surface squamous neoplasia (OSSN).Methods41 patients affected by OSSN were included. Each patient underwent full ophthalmological examination at baseline, with cytological or histological confirmation. Patients were treated by topical chemotherapy with 1% 5-FU four times a day for 4 weeks. One course was defined as 4 weeks of topical chemotherapy. Adjunctive courses were administered after 1 month of chemotherapy-free interval.ResultsMean follow-up was 105±32 months (range 60–171 months). Complete tumour regression was achieved in 34 cases (83%) after a mean of 1.5 courses (range, 1–3 courses). Univariate analysis revealed that complete response was significantly related to tumour thickness <1.5 mm (p=0.005), lack of fornix or tarsal involvement (p=0.015 and p=0.009, respectively) and the absence of multifocality (p=0.002). Histopathological diagnosis (intraepithelial neoplasia vs squamous cell carcinoma, p=0.019) and American Joint Committee on Cancer (AJCC) classification (T1 vs T2 or T3) (p=0.028) were also related to incomplete tumour response. In a multivariate analysis, just tumour thickness >1.5 mm (p=0.045) and multifocality (p=0.023) were correlated with incomplete tumour response. Transient and reversible low-to-mild local side effects were documented in 19 (48%) eyes.ConclusionTopical 5-FU, as a sole therapy, is a long-term safe and effective treatment for patients affected by preinvasive OSSN and for a limited proportion (50%) of invasive OSSN.

AimsTo evaluate the efficacy and duration of activity of a single intravitreal dexamethasone implant in patients affected by radiation maculopathy.MethodsThirteen consecutive eyes of 13 patients affected by radiation maculopathy secondary to eye irradiation for a primary uveal melanoma (Iodine-125 brachytherapy) and treated with a single intravitreal 0.7 mg dexamethasone implant were retrospectively evaluated. Each patient underwent full ophthalmological examination, including fluorescein angiography and spectral domain optical coherence tomography (SD-OCT), even in en-face modality. Follow-up was performed monthly over a 6-month period.ResultsAt preinjection visit, the median central subfield thickness (CST) by SD-OCT was 407 µm (IQR, 357–524 µm) and the median best-corrected visual acuity (BCVA) was 61 ETDRS score (IQR, 54–67). The median gain of ETDRS letter at 1 month was 6.5 (IQR, 4–15) (p<0.01). The median CST showed a reduction of 120 µm (IQR, 62–134) (p<0.01). Further CST reduction was reported at 2 months' follow-up, with CST stabilisation at 3 months and maintenance of BCVA. At 4, 5 and 6 months' follow-up, all patients presented progressive retinal thickening (p<0.01) and BCVA reduction (p<0.01). No side effects were documented.ConclusionIntravitreal dexamethasone implant reduces macular oedema secondary to radiation maculopathy and also improved visual acuity in a consistent proportion of patients. Signs of macular oedema recurrence may be detected at a median of 4 months after injection.

Hyperreflective intraretinal spots, analyzed using optical coherence tomography, could be considered as a new clinical biomarker of intraretinal inflammation in patients affected by macular edema secondary to irradiation for uveal melanoma.

Purpose To compare rod function among diabetic patients without and with mild nonproliferative diabetic retinopathy (DR) and healthy controls by means of scotopic microperimetry and dark-adapted electroretinography.Methods Sixty-one diabetic patients and 30 age-matched controls (control group) underwent complete ophthalmic examination, scotopic microperimetry, and dark-adapted 0.01 electroretinography (DA-ERG).Results In 32 eyes, DR was absent (no-DR group); in 29 eyes, only microaneurysms were observed (DR group). No statistically significant differences in fixation stability, fixation location, or scotopic sensitivity among the 3 groups were observed. Implicit time and amplitude of the DA-ERG b-wave of no-DR and DR groups were not different from controls. Scotopic microperimetry showed a dense scotoma centered onto the fovea in all subjects, consistent with the rod-free zone. Greater scotopic sensitivity was found in a ring located 8° from the fovea (9.33 ± 1.33 dB).Conclusions Diabetic patients without DR and with mild nonproliferative DR did not show alterations in rod-based function, as examined by microperimetry and confirmed by DA-ERG. Scotopic microperimetry measures rod-based function and offers additional information in the evaluation of the aspects of involvement of retinal cells in diabetes.

IMPORTANCE: Progressive geographic atrophy (GA) of the retinal pigment epithelium leads to loss of central vision. To identify GA in age-related macular degeneration and assess treatment, correlation of function observed on microperimetry with structure observed on optical coherence tomographic (OCT) images may be of value. OBJECTIVE: To characterize the microperimetric function of GA as identified from en face OCT imaging. DESIGN, SETTING, AND PARTICIPANTS: In a case-series study, 20 patients (22 eyes) entered the study at the University of Padova according to preplanned conditions. From March 1 to July 30, 2014, en face OCT images were obtained at the outer retinal layer and choroidal layer levels. The microperimetry sensitivity map was superimposed on the en face OCT images, which had been used to measure GA areas. Relative and dense scotoma rates were calculated in the GA areas. After data collection, the study eyes were divided into 3 groups according to the macular residual mean sensitivity. MAIN OUTCOMES AND MEASURES: Retinal sensitivity measured by microperimetry within areas of GA identified by en face OCT images. RESULTS: Twenty patients (5 men and 15 women) were included in the study, with a mean (SD) age of 79.5 (7.0) years (range, 69-98 years). Macular residual mean retinal sensitivity was less than 5 dB in 7 eyes (group 1), 5 to 10 dB in 9 eyes (group 2), and greater than 10 dB in 6 eyes (group 3). Mean (SD) GA area differed among the groups at the outer retinal (13.13 [5.03] mm2 [range, 5.75-21.04 mm2] in group 1; 7.80 [3.25] mm2 [range, 3.31-13.52 mm2] in group 2; and 3.94 [2.35] mm2 [range, 1.46-7.90 mm2] in group 3; P = .001) and choroidal (11.83 [5.55] mm2 [range, 4.55-22.14 mm2] in group 1; 7.00 [4.29] mm2 [range, 0.90-13.83 mm2] in group 2; and 3.27 [2.29] mm2 [range, 0.91-7.23 mm2] in group 3; P = .007) layer levels. Mean (SD) GA area imaged at the outer retinal layer level was significantly larger than that imaged at the choroidal level in group 3 (difference, 0.67 mm2; 95% CI, 0.31-1.03 mm2; P = .005), but not in groups 1 or 2. Mean (SD) rate of relative scotoma was significantly higher in the GA area imaged at the outer retinal layer level than at the choroidal level in group 3 (47.70% [31.30%] [range, 13.60%-100%] vs 34.00% [37.30%] [range, 0%-100%]; difference, 13.74%; 95% CI, 3.84%-23.63%; P = .02), but not in groups 1 or 2. CONCLUSIONS AND RELEVANCE: In the early stage of GA, when retinal sensitivity is relatively good, these data suggest that the GA area imaged on en face OCT at the outer retinal level correctly detects the wide functional degenerative involvement of the photoreceptors. These findings provide novel data that correlate function and structure, which may be of value when assessing treatments that might prevent or reduce the rate of growth of GA.

Scanning laser ophthalmoscope in the retromode easily and noninvasively evaluates different aspects of diabetic macular edema, including the extent. The extent may become a new parameter in the clinical evaluation of diabetic macular edema allowing to identify new phenotypes and more tailored treatment to obtain better functional results.

Purpose To explore the interobserver agreement in the diagnosis of retinal angiomatous proliferation (RAP) using fluorescein (FA) and indocyanine green angiographies (ICGA) and to detect which morphologic features of the neovascular lesion are associated with RAP diagnosis.Methods In this cross-sectional study, consecutive patients with newly diagnosed neovascular age-related macular degeneration (AMD) evaluated in 8 retina centers were considered. The FA and ICGA were obtained in all centers according to a standard protocol, both performed either as a static or as a dynamic examination. All images were graded by 2 observers from different institutions.Results A total of 201 eyes with neovascular AMD of 155 consecutive patients (mean age 76±8 years) were considered. Overall RAP prevalence was 30% using FA and 26% using ICGA. Patients studied with dynamic angiography were twice as likely to be diagnosed with RAP as those using static angiography. Interobserver agreement for the overall detection of RAP was high using FA (kappa: 0.868; 95% confidence interval [CI]: 0.793-0.944) and very high using ICGA (kappa: 0.905; 95% CI 0.836-0.974). The agreement between the 2 observers tended to be higher for the truncated vessel than for the anastomosis in FA as well as in ICGA, but no comparison yielded statistical significance (p=0.258 and p=0.584, respectively).Conclusions The interobserver agreement for RAP detection was very good both using FA and ICGA, but the overall detection of RAP was higher for dynamic strategy compared with static one.

Purpose TO compare standard versus bolus photodynamic therapy (PDT) in the treatment of symptomatic circumscribed choroidal hemangioma (CCH).Methods Twenty consecutive cases of CCH were included in this prospective randomized study. Each patient was randomly assigned to receive either standard PDT (10-minute 6 mg/mq2verteporfin infusion; treatment at 15 min; 50 J/cm2; 83 s) or bolus PDT (6 mg/mq2verteporfin infusion bolus in 1 min; treatment at 5 min; 100 J/cm2; 166 s). Best-corrected visual acuity (BCVA), fundus photography, optical coherence tomography, fluorescein, and indocyanine green angiography were performed at baseline and during follow-up. Retinal sensitivity was tested with microperimetry before and after treatment. Follow-up was longer than 32 months.Results Mean follow-up was 58±11 months. All cases (100%) showed clinical regression of the treated lesion. Neuroretinal and retinal pigment epithelium (RPE) changes were found in 9 (90%) bolus PDT over treated area. No similar RPE changes were found in patients treated with standard PDT. There was a no statistically significant difference in BCVA outcome between the 2 groups (p=0.078). Microperimetry revealed reduced sensitivity over the treated area in 7 bolus PDT vs 1 in standard treated eyes (p=0.008).Conclusions Both standard and bolus PDT induce regression of symptomatic CCH. Bolus PDT may cause RPE and retinal changes associated with reduced retinal sensitivity.

Purpose To compare long-term choroidal vascular changes after iodine-125 brachytherapy (IBT) versus transpupillary thermotherapy (TTT) used as primary treatment of small choroidal melanoma.Methods Ninety-five small choroidal melanomas were randomized: 49 eyes with TTT and 46 eyes with IBT alone. Fluorescein and indocyanine green angiography (ICGA) were performed at 3-month intervals during the first year, and every 6 months thereafter.Results Mean follow-up was 56.2 months (range, 24–118 months; SD, 22.6). Tumor regressed in 45 (92%) TTT-treated vs 45 (98%) IBT-treated eyes (p=0.397). Four TTT-treated and one IBT-treated tumor recurred. Occlusion of choriocapillaris was present in all TTT and IBT cases. Closure of medium and large choroidal vessels was observed in 17 (35%) TTT-treated vs 44 (96%) IBT-treated eyes (p<0.001). Choroidal vascular remodeling was detected in 20 (41%) TTT-treated and 16 (35%) IBT-treated eyes (p=0.693). Retinochoroidal anastomosis was present in 4 of the 37 (11%) TTT-treated eyes with patency of medium and large choroidal vessels, but never observed in the IBT-treated eyes, and was associated with tumor recurrence. Among IBT-treated eyes, segments of choroidal vascular wall ICG staining and choroidal aneurysmal changes were detected in 30 (65%) and 7 (15%), respectively. These changes were never detected in TTT-treated cases (p<0.0001 and p=0.015, respectively).Conclusions The pattern of tumor choroidal vascular changes following IBT and TTT differs. TTT is less effective in closing all tumor vasculature. The role of long-term choroidal vascular remodeling observed after these two treatments needs longer follow-up.

Abstract: Background: von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas.  Methods: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. Results: Ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a „missense” mutation of the VHL gene at nucleotide 683.  Conclusions: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.

Intraocular metastasis from a carcinoid tumor is a rare event with anecdotal reports of iris involvement. We describe a case of iris metastasis from a carcinoid tumor treated with photodynamic therapy (PDT).