Diabetic retinopathy in Greece: prevalence and risk factors studied in the medical retina clinic of a Greek tertiary hospital.

PURPOSE: To determine the prevalence of diabetic retinopathy (DR) and diabetic macular edema (DME) in a cohort of Greek diabetic patients and identify possible risk factors. METHODS: This is a non-interventional, cross-sectional study of 300 diabetic Greek patients attending the Ophthalmology Department of a tertiary hospital. Clinical and imaging data were recorded and statistical analysis was performed. Confidence intervals (CI) at 95% and statistically significant p values ≤ 0.05 were set. RESULTS: A total of 300 diabetic patients were included. Of these patients, 21 (7%) were diagnosed with diabetes mellitus (DM) type I and 279 (93%) with DM type II. The average duration of diabetes was 15 ± 9.4 years (95% CI 13.9-16.1) and the mean level of HbA1c was 7.2 ± 1.3 (95% CI 7.1-7.4) overall. Prevalence of DR was 38.7% (116 patients), only 15 patients (5%) had proliferative DR and DME was detected in 19 patients (6.3%). In DM type I patients, 52.4% had DR and 9.5% had DME, while in the DM type II group, 37.6% had DR and 6.1% had DME. Binary logistic regression analysis identified duration of diabetes, increased HbA1c and hypertriglyceridemia as potential risk factors. CONCLUSIONS: This study is the first one to present the extent and severity of DR and DME in a Greek cohort of diabetic patients and also identify risk factors associated with these entities. Our findings highlight the significance of a properly organized national screening program for the early detection and management of the vision-threatening complications of DR.

Morphometric analysis of fibrovascular pigment epithelial detachments treated with ranibizumab and aflibercept.

PURPOSE: To assess fibrovascular pigment epithelial detachments (PED) and their response to two different anti-VEGF agents using optical coherence tomography (OCT) morphometric analysis. METHODS: Seventy-three consecutive, treatment-naïve eyes with fibrovascular PED (>125 µm) treated with ranibizumab or aflibercept were retrospectively included. A custom-made software was used to manually segment and calculate PED maximum height, base area, volume and internal reflectivity at baseline, after three injections and 1 year. RESULTS: Visual acuity (VA) change was 2 ETDRS letters ± 7.6 after three injections and 3.2 ETDRS letters ± 10.3 at 1 year. There was no significant difference between VA changes amongst the two drugs. At 1 year, anti-VEGF treatment resulted in a mean reduction of 125 µm in maximum PED height, of 2.26 mm2 in base area and of 0.54 mm3 in volume with a corresponding increase in reflectivity. These changes were more prominent in the aflilbercept group. The observed PED and VA changes at year 1 were strongly correlated with their values at baseline and after three injections. CONCLUSIONS: Anti-VEGF treatment resulted in a reduction of all PED dimensions and a corresponding increase in optical reflectivity. Higher, larger and more hypo-reflective PEDs demonstrated a better anatomical response, especially with aflibercept, but this was not correlated with VA.

The effect of COVID-19 pandemic on the attendance and clinical outcomes of patients with ophthalmic disease: A mini-review.

The outbreak of COVID-19 was followed by a rapid spread leading to its declaration as a pandemic in a short time. The transmission through aerosols and direct contact with infected individuals forced the application of strict safety protocols and rearrangements in the activities of different healthcare systems around the world. Ophthalmology healthcare workers are highly exposed to viral infection and therefore adjustments were made to ensure the safety of patients and health providers by performing only urgent treatments. The suspension and delay in regular follow-up visits and the lower number of patients recorded during the lockdown period due to restrictions and patient anxiety led to severe consequences in the clinical and anatomical outcome affecting the overall prognosis. The current review aims to summarize the effect of the lockdown policies in the number and profile of patients that attended the ophthalmology clinics from different countries and analyze the effect of the pandemic in terms of vision and patient functionality. The effects of the pandemic included a reduction in the number of appointments, cancellations of non-emergency conditions and delays of surgical interventions. These had a negative effect in terms of visual outcomes.

Progressive External Ophthalmoplegia Diagnosed in the Glaucoma Clinic: The Importance of a Complete Clinical Examination.

PURPOSE: To present a case of chronic progressive external ophthalmoplegia (CPEO) diagnosis in the setting of a busy glaucoma clinic. MATERIALS AND METHODS: Case report. RESULTS: A 70-year-old-female presented to our glaucoma clinic concerned on her glaucoma status. She was previously followed-up elsewhere. Her past ophthalmic history included a diagnosis of normal tension glaucoma 10 years earlier for which she was on topical anti-glaucoma medication. On inspection, symmetrical ptosis was noted and when she was asked about her family history, she reported that 4 members of her family had "problems with moving their eyes" as she also had from a young age. Her best corrected visual acuity was 20/100 in her right eye (RE) and 20/80 in her left eye (LE). Optic discs had normal margins with peripapillary atrophy and cup/disc ratio was 0.7 RE and 0.8 LE. Intraocular pressure was 10mmHg bilaterally. Ocular motility examination revealed severe restriction in all directions of gaze. She had mild alternating exotropia but she did not report any diplopia. Based on her family history, bilateral ptosis, ophthalmoplegia and reported symptoms, the diagnosis of CPEO was made. CONCLUSION: In the setting of a busy subspecialty clinic, it is common for clinicians to focus on a specific pathology and overlook additional signs and symptoms that represent a second often unrelated condition. Our case highlights the importance of a thorough assessment including history taking (general, ophthalmic and family), good documentation of symptoms and an adequate clinical examination.

Does COVID-19 Involve the Retina?

Endothelial cell involvement with COVID-19 has been shown in the lung, heart, kidney, intestine and brain with histopathological evidence of endotheliitis and vasculitis. Viral RNA of COVID-19 has been detected in the retina of affected patients and recent publications highlight the possibility of retinal microangiopathy in patients with confirmed COVID-19 infection. Given the magnitude of the current pandemic, emphasis should be given to better reporting of clinically significant ocular symptoms, e.g. new scotoma, which could indicate the need for a retinal examination as well as follow-up testing after recovery from COVID-19.

Does COVID-19 Involve the Retina?

Endothelial cell involvement with COVID-19 has been shown in the lung, heart, kidney, intestine and brain with histopathological evidence of endotheliitis and vasculitis. Viral RNA of COVID-19 has been detected in the retina of affected patients and recent publications highlight the possibility of retinal microangiopathy in patients with confirmed COVID-19 infection. Given the magnitude of the current pandemic, emphasis should be given to better reporting of clinically significant ocular symptoms, e.g. new scotoma, which could indicate the need for a retinal examination as well as follow-up testing after recovery from COVID-19.

Retinal Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Retinal pigment epithelial detachment is defined as a separation of the retinal pigment epithelium from the inner collagenous layer of Bruch's membrane. It is a common manifestation in both dry and wet types of age-related macular degeneration. This review aims to provide a comprehensive guide to the pathophysiology, clinical and imaging characteristics, natural course and treatment of the various types of pigment epithelial detachments in order to assist in diagnosis and management of this important feature of age-related macular degeneration.

Outer retinal tubulations in maternally inherited diabetes & deafness - associated macular dystrophy: case report.

PURPOSE: To describe the presence of outer retinal tubulations (ORTs) in a patient diagnosed with maternally inherited diabetes and deafness (MIDD) - associated macular dystrophy. METHODS: The patient underwent clinical examination assessing best-corrected visual acuity (BCVA), anterior segment evaluation and fundoscopy followed by optical coherence tomography (OCT). Audiological evaluation was also performed for the accurate diagnosis of MIDD. RESULTS: A 57-year-old diabetic patient with mildly affected BCVA, macular dystrophy and severe neurosensory hearing loss was diagnosed with MIDD. Examination with OCT revealed the central loss of photoreceptors and the presence of ORTs in close proximity to the fovea. Regular follow-up seven months after her initial visit showed no alterations in the clinical and imaging status of the patient. In the context of family screening, the patient's sister presented with the diagnosis of pre-diabetes and a moderate sensorineural hearing loss, while fundus examination and OCT revealed no significant pathology. In this report, we present ORTs in association with MIDD. CONCLUSIONS: ORTs are a non-specific finding that can be found in MIDD and other retinal dystrophies. Taking under consideration the rarity and the difficulty in diagnosing this entity, our data could serve as an addition to the existing knowledge in terms of clinical and imaging manifestations of MIDD.

Enhanced Depth Imaging Optical Coherence Tomography of Optic Nerve Head Drusen in Children.

BACKGROUND: To assess the utility of enhanced depth imaging optical coherence tomography (EDI-OCT), compared with other conventional imaging modalities, for detecting and characterizing optic nerve head drusen (ONHD) in children. METHODS: We report a retrospective cross-sectional case series of consecutive pediatric patients (age ≤16 years) with ONHD confirmed using B-scan ultrasonography. All eyes were evaluated using spectral-domain OCT of the optic nerve head in conventional (non-EDI) and EDI modes, fundus autofluorescence (FAF), and standard automated perimetry. Detection rates and the capacity to characterize ONHD were compared between EDI-OCT, non-EDI-OCT, and FAF. RESULTS: Twenty-eight eyes of 15 patients (mean age 11 years; 60% female) were identified with definite ONHD that were confirmed by B-scan ultrasound. Among the technologies, EDI-OCT, non-EDI-OCT, FAF, and automated perimetry had findings consistent with ONHD in 24, 21, 18, and 4 eyes, respectively. EDI-OCT had a significantly better detection capability (86% of eyes) compared with FAF (P = 0.04) but not with non-EDI-OCT (P = 0.15). Similar to results previously reported in adult patients, EDI-OCT detected ONHD at different levels of depth; most were located anterior to the lamina cribrosa. ONHD detected by EDI-OCT appeared as hypo-reflective ovoid regions bordered by hyper-reflective material or as isolated hyper-reflective bands without a hypo-reflective core. The mean greatest diameter of ONHD seen on EDI-OCT was 449.7 (SD ±114.1) µm. CONCLUSIONS: EDI-OCT detects ONHD in most eyes identified as having drusen on B-scan ultrasonography. This technique has the potential to be an effective alternative first-line diagnostic and monitoring tool for ONHD, particularly for detecting buried drusen in children.

QUANTITATIVE ANALYSIS OF PIGMENT EPITHELIAL DETACHMENT RESPONSE TO DIFFERENT ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR AGENTS IN WET AGE-RELATED MACULAR DEGENERATION.

PURPOSE: To assess whether best-corrected visual acuity and pigment epithelial detachment (PED) height, volume, and reflectivity in patients with wet age-related macular degeneration are influenced by baseline anatomical and functional parameters, including quantifiable metrics of PED morphology and choice of treatment. METHODS: One hundred two consecutive, treatment-naive wet age-related macular degeneration patients with PED (>50 µm) treated with aflibercept (52) or ranibizumab (50) were retrospectively included. Pigment epithelial detachment height, horizontal and vertical dimensions, and volume were recorded at baseline, 3 months, and 1 year, respectively. Bespoke image analysis software provided a quantifiable measure of reflectivity. RESULTS: Best-corrected visual acuity at 3 months was influenced by baseline best-corrected visual acuity (P = 0.006). Pigment epithelial detachment height was influenced by baseline height (P = 0.009), subretinal fluid (P = 0.008), central macular thickness (P = 0.006), and use of aflibercept (P = 0.003) at 3 months and by baseline height (P = 0.018), volume (P = 0.017), vertical dimension (P = 0.0004), and aflibercept (P = 0.015) at 1 year. Pigment epithelial detachment reflectivity increased from 43.59 to 55.86 (3 months) and 57.35 (1 year) (P < 0.001) and was influenced by its baseline values and, interestingly, use of aflibercept at 3 months (P = 0.013). CONCLUSION: Quantifiable metrics of PED morphology improve with treatment, and PED content becomes hyperreflective, more so on aflibercept. Pigment epithelial detachments respond better in the context of more active disease. More hyporeflective PED content may predispose to better treatment response, especially with aflibercept.

Choroidal Vascularity Index (CVI)--A Novel Optical Coherence Tomography Parameter for Monitoring Patients with Panuveitis?

PURPOSE: To compute choroidal vascularity index (CVI) using an image binarization tool on enhanced depth imaging (EDI)-optical coherence tomography (OCT) scans as a non-invasive optical tool to monitor progression in panuveitis and to investigate the utility of volumetric data from EDI-OCT scans using custom image analysis software. MATERIALS AND METHODS: In this retrospective cohort study, segmented EDI-OCT scans of both eyes in 19 patients with panuveitis were taken at baseline and at 3-month follow-up and were compared with EDI-OCT scans of normal eyes. Subfoveal choroidal area was segmented into luminal (LA) and stromal interstitial area (SA). Choroidal vascularity index (CVI) was defined as the proportion of LA to the total circumscribed subfoveal choroidal area (TCA). RESULTS: The mean choroidal thickness was 265.5±100.1µm at baseline and 278.4±102.6µm at 3 months follow up (p = 0.06). There was no statistically significant difference in TCA between study and control eyes (p = 0.08). CVI in the control group was 66.9±1.5% at baseline and 66.4±1.5% at follow up. CVI was 74.1±4.7% at baseline and 69.4±4.8% at 3 months follow up for uveitic eyes (p<0.001). The % change in CVI was 6.2 ±3.8 (4.3 to 8.0) for uveitic eyes, which was significantly higher from % change in CVI for control eyes (0.7±1.1, 0.2 to 1.3, p<0.001). CONCLUSION: The study reports composite OCT-derived parameters and CVI as a possible novel tool in monitoring progression in panuveitis. CVI may be further validated in larger studies as a novel optical tool to quantify choroidal vascular status.

Missed Hospital Appointments of Patients Receiving Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration.

INTRODUCTION: The aim of this study was to investigate the frequency and duration of missed hospital appointments (MHAs) in a consecutive cohort of patients treated with ranibizumab for neovascular age-related macular degeneration (nAMD) and to assess their impact on outcomes of therapy in a real-world clinical setting. METHODS: Retrospective, cross-sectional study of consecutive patients attending medical retina clinics for nAMD treatment with ranibizumab. RESULTS: Seventy-eight eyes of 78 patients met the inclusion criteria for data analysis. Mean age was 78 years with mean follow-up of 27 months. Mean visual acuity (VA) was 52 ± 16 letters at baseline, 56 ± 17 letters at year 1 and 58 ± 16 letters at year 2. At the end of the second year, 90% of the patients had lost <15 letters, 26% had gained ≥15 letters and 10% had lost ≥15 letters. Nineteen patients had at least one MHA (24%) over 2 years. There were 26 MHA episodes in total leading to a median duration of 79 days (range 35-159) between attended hospital visits. None of these MHAs occurred during the first 3 months after treatment initiation. Mean VA and central retinal thickness difference between 2 years and baseline for the MHA group was not statistically different compared with the non-MHA group. CONCLUSIONS: Our data suggest that MHA may be a relatively common occurrence in AMD treatment clinics, but good outcomes of treatment can be achieved over 2 years despite missed hospital visits if patients are reviewed on average six times in the first year after an initial loading phase of three injections and nine times in the second year of treatment.

Quantitative analysis of peripheral vasculitis, ischemia, and vascular leakage in uveitis using ultra-widefield fluorescein angiography.

PURPOSE: To investigate the relationships between peripheral vasculitis, ischemia, and vascular leakage in uveitis using ultra-widefield fluorescein angiography (FA). DESIGN: Cross-sectional, consecutive case series. METHODS: Consecutive ultra-widefield FA images were collected from 82 uveitis patients (82 eyes) in a single center. The extent of peripheral vasculitis, capillary nonperfusion, and vessel leakage were quantified. Parameters included: (1) foveal avascular zone area and macular leakage, (2) peripheral diffuse capillary leakage and ischemia, (3) peripheral vasculitis, and (4) leakage from neovascularization. Central macular thickness measurements were derived with optical coherence tomography. Main outcome measures were correlations between central and peripheral fluorangiographic changes as well as associations between visual function, ultra-widefield FA-derived metrics, and central macular thickness. RESULTS: Although central leakage was associated with peripheral leakage (r = 0.553, P = .001), there was no association between foveal avascular zone size and peripheral ischemia (r = 0.114, P = .324), regardless of the underlying uveitic diagnosis. Peripheral ischemia was, however, correlated to neovascularization-related leakage (r = 0.462, P = .001) and focal vasculitis (r = 0.441, P = .001). Stepwise multiple regression analysis revealed that a poor visual acuity was independently associated with foveal avascular zone size and central macular thickness (R(2)-adjusted = 0.45, P = .001). CONCLUSIONS: We present a large cohort of patients with uveitis imaged with ultra-widefield FA and further describe novel methods for quantification of peripheral vascular pathology, in an attempt to identify visually significant parameters. Although we observed that relationships exist between peripheral vessel leakage, vasculitis, and ischemia, it was only macular ischemia and increased macular thickness that were independently associated with a reduced visual acuity.

Objective measurement of vitreous inflammation using optical coherence tomography.

PURPOSE: To obtain measurements of vitreous signal intensity from optical coherence tomography (OCT) image sets in patients with uveitis, with the aim of developing an objective, quantitative marker of inflammatory activity in patients with this disease. DESIGN: Retrospective, observational case-control series. PARTICIPANTS: Thirty patients (30 eyes) with vitreous haze secondary to intermediate, posterior, or panuveitis; 12 patients (12 eyes) with uveitis but without evidence of vitreous haze; and 18 patients (18 eyes) without intraocular inflammation or vitreoretinal disease. METHODS: Clinical and demographic characteristics were recorded, including visual acuity (VA), diagnosis, and anatomic type of uveitis. In each eye, the anterior chamber (AC) was graded for cellular activity and flare according to standardized protocols. The presence and severity of vitreous haze were classified according to the National Eye Institute system. Spectral-domain OCT images were analyzed using custom software. This software provided an "absolute" measurement of vitreous signal intensity, which was then compared with that of the retinal pigment epithelium (RPE), generating an optical density ratio with arbitrary units ("VIT/RPE-Relative Intensity"). MAIN OUTCOME MEASURES: Correlation between clinical vitreous haze scores and OCT-derived measurements of vitreous signal intensity. RESULTS: The VIT/RPE-Relative Intensity was significantly higher in uveitic eyes with known vitreous haze (0.150) than in uveitic eyes without haze or in healthy controls (0.0767, P = 0.0001). The VIT/RPE-Relative Intensity showed a significant, positive correlation with clinical vitreous haze scores (r = 0.566, P = 0.0001). Other ocular characteristics significantly associated with VIT/RPE-Relative Intensity included VA (r = 0.573, P = 0.0001), AC cells (r = 0.613, P = 0.0001), and AC flare (r = 0.385, P = 0.003). Measurement of VIT/RPE-Relative Intensity showed a good degree of intergrader reproducibility (95% limits of agreement, -0.019 to 0.016). CONCLUSIONS: These results provide preliminary evidence that OCT-derived measurements of vitreous signal intensity may be useful as an outcome measure in patients with uveitis. If validated in future studies, such measures may serve as an objective, quantitative disease activity end point, with the potential to improve the "signal:noise" ratio of clinical trials in this area, thus enabling smaller studies for the same power. The incorporation of automated vitreous analysis in commercial OCT systems may, in turn, facilitate monitoring and re-treatment of patients with uveitis in clinical practice.

Patterns of peripheral retinal and central macula ischemia in diabetic retinopathy as evaluated by ultra-widefield fluorescein angiography.

PURPOSE: To investigate the association between peripheral and central ischemia in diabetic retinopathy. DESIGN: Retrospective, cross-sectional. METHODS: Consecutive ultra-widefield fluorescein angiography images were collected from patients with diabetes over a 12-month period. Parameters quantified include the foveal avascular zone (FAZ) area, peripheral ischemic index, peripheral leakage index, and central retinal thickness measurements, as well as visual acuity. The peripheral ischemia or leakage index was calculated as the area of capillary nonperfusion or leakage, expressed as a percentage of the total retinal area. RESULTS: Forty-seven eyes of 47 patients were included. A moderate correlation was observed between the peripheral ischemia index and FAZ area (r = 0.49, P = .0001). A moderate correlation was also observed between the peripheral leakage index and FAZ area, but only in eyes that were laser naïve (r = 0.44, P = .02). A thinner retina was observed in eyes with macular ischemia (217 ± 81.8 µm vs 272 ± 36.0 µm) (P = .02), but not peripheral ischemia (258 ± 76.3 µm vs 276 ± 68.0 µm) (P = .24). The relationships between different patterns of peripheral and central macular pathology and visual acuity were evaluated in a step-wise multivariable regression model, and the variables that remained independently associated were age (r = 0.33, P = .03), FAZ area (r = 0.45, P = .02), and central retinal thickness (r = 0.38, P = .01), (R(2)-adjusted = 0.36). CONCLUSIONS: Ultra-widefield fluorescein angiography provides an insight into the relationships between diabetic vascular complications in the retinal periphery and central macula. Although we observed relationships between ischemia and vascular leakage in the macula and periphery, it was only macular ischemia and retinal thinning that was independently associated with a reduced visual function.

Quantitative analysis of diabetic macular ischemia using optical coherence tomography.

PURPOSE: We described the optical coherence tomography (OCT) features of diabetic macular ischemia (DMI), and correlate these findings with visual acuity (VA). METHODS: Clinical and imaging data were collected from 100 patients with type 2 diabetes. Qualitative grading of DMI severity was determined according to criteria defined by the Early Treatment Diabetic Retinopathy Study. Quantitative analysis of foveal avascular zone (FAZ), and OCT images were performed using custom software. RESULTS: In all eyes, the outer retina was thicker in eyes with DMI (167.4 ± 18.5 vs. 150.4 ± 31.4 µm, P = 0.04). However, subanalysis of eyes "without macular edema" revealed the converse; outer retinal thinning in eyes with DMI (223.1 ± 31.2 vs. 244.9 ± 37.2 µm, P = 0.007). A thinner retinal nerve fiber layer also was observed to correlate with increasing FAZ size (r = -0.231, P = 0.03), which strengthened in eyes "without macular edema" (r = -0.62, P = 0.001). In the choroid, quantification of its sublayers revealed a thicker Haller's large vessel layer in the presence of DMI (144.3 ± 51.0 vs. 103.5 ± 39.4 µm, P = 0.01). In eyes with DMI, a thicker retina was correlated with worsening VA (r = 0.52, P = 0.001). However, when eyes with macular edema were excluded, a thinner retina was associated with poor VA (r = -0.37, P = 0.004). CONCLUSIONS: In eyes with DMI, we observed thinning of the retinal nerve fiber layer, outer retina, and thickening of Haller's large vessel layer of the choroid. These parameters showed good correlation with VA and may serve as a useful tool for monitoring DMI in clinical practice or future clinical trials.

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report.

BACKGROUND: Pseudoxanthoma elasticum is an inherited disorder that is associated with accumulation of pathologic elastic fibers in the skin, vascular walls and Bruch's membrane in the eye. Choroidal neovascularization is one of the most common causes of acute vision loss in these patients. We report an atypical case of suspected choroidal neovascularization associated with pseudoxanthoma elasticum. CASE PRESENTATION: A 47-year-old Caucasian woman with pseudoxanthoma elasticum and angioid streaks was referred because of decreased and distorted vision in her right eye of one week's duration. Visual acuity was 6/12 in the right eye and 6/6 in the left eye. Fundus examination revealed angioid streaks and white intraretinal macular deposits bilaterally. Fluorescein angiography did not reveal any obvious leakage in the right eye while optical coherence tomography revealed subretinal fluid associated with an adjacent intraretinal hyperreflective structure. Autofluoresence imaging showed focal areas of increased autofluorescence corresponding to the deposits in both eyes. Over the following year the patient underwent five intravitreal injections of bevacizumab (Genentech/Roche,US) in the right eye, which resulted in visual acuity improving to 6/9 with regression of the hyperreflective structrure and complete resolution of subretinal fluid. CONCLUSIONS: Traditionally, fluorescein angiography is effective in the detection of choroidal neovascularization in patients with pseudoxanthoma elasticum. In our case, optical coherence tomography revealed subretinal fluid and an adjacent hyperreflective structure while fluorescein angiography did not reveal any obvious leakage. The sole presence of subretinal fluid does not necessarily imply the presence of choroidal neovascularization and certainly retinal pigment epithelium dysfunction could also explain subretinal fluid in these patients. However, the complete absorption of the fluid and the disappearance of the previously evident hyperreflective structure following treatment, led us to suspect choroidal neovascularization as the primary cause of the above findings. The poor natural course of choroidal neovascularization in these patients increases the importance of early detection and should result in the adaptation of a low-threshold strategy concerning the initiation of treatment.

Retinal dysfunction and high myopia in association with 48,XXYY syndrome.

PURPOSE: 48,XXYY syndrome was first described in 1964 and approximately 100 cases have been reported in the literature. We report a case of 48,XXYY syndrome associated with high myopia and retinal dysfunction. METHODS: Case report. RESULTS: A 28-year-old man was referred with progressive deterioration of visual acuity (VA) bilaterally during the previous 4-5 years. Physical examination revealed tall stature, large feet and irregular teeth. Refraction revealed high myopia with VA 6/60 bilaterally. Fundoscopy revealed a normal vitreous, lightly pigmented retinal pigment epithelium and choroid but no bone spicules or overt signs of retinal degeneration. His visual fields were constricted. Electrodiagnostic testing revealed bilateral generalised retinal dysfunction with severe macular involvement. During follow-up, his ophthalmic examination did not exhibit significant changes while VA was gradually deteriorating. Eight years after presentation, VA was 3/60 bilaterally; electrophysiological testing showed no further change. At that stage, his parents consented for DNA analysis in order to determine the cause of retinal dysfunction. Chromosomal analysis revealed an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY syndrome. CONCLUSIONS: The present report is the first to describe retinal dysfunction and high myopia with 48,XXYY syndrome. The severe macular and generalised retinal dysfunction in this case are not those associated with myopia and are in keeping with a primary retinal dysfunction. A coincidental finding cannot be excluded, but ERGs have not previously been reported in 48,XXYY syndrome, and retinal dystrophy may be a previously undiagnosed component of this syndrome.

Evaluation of retinal pigment epithelium-Bruch's membrane complex thickness in dry age-related macular degeneration using optical coherence tomography.

AIM: To compare retinal pigment epithelium-Bruch's membrane (RPE-BM) complex thickness in patients with early and intermediate dry age-related macular degeneration (AMD) and age-matched controls using spectral domain optical coherence tomography (SD-OCT). METHODS: In this retrospective, cross-sectional study, 25 patients with dry AMD and 25 controls were recruited. SD-OCT scans were manually segmented by two independent investigators. Thickness values were calculated for the nine Early Treatment Diabetic Retinopathy Study (ETDRS) subfields. RESULTS: RPE-BM thickness was significantly thicker in the dry AMD group (32.3, 30.6 and 28.4 µm for central, inner and outer subfields, respectively) compared with the normal eyes (22.7, 21.8 and 21.6 µm, respectively). RPE-BM thickness was positively correlated with age in the normal group but not in the AMD group. RPE-BM thickness in the dry AMD group was negatively correlated with visual acuity in the central and inner subfields but not in the outer. We observed good intraobserver and inter-observer reliability for both groups in all ETDRS subfields. CONCLUSIONS: This study reports novel data concerning RPE-BM segmentation in dry AMD and performs a direct comparison with age-matched normal controls. Our findings confirm the electron and light microscopy derived data and also establish the value of OCT in the quantification of the RPE-BM complex.

Choroidal assessment in idiopathic panuveitis using optical coherence tomography.

BACKGROUND: Idiopathic panuveitis is a diagnosis of exclusion that lacks distinguishing features on fluorescein and indocyanine green angiography. Choroidal hypoperfusion or ischaemia has been implicated in panuveitis of different aetiologies. In this study, we use enhanced depth imaging optical coherence tomography (OCT) to examine the choroid and its vasculature in patients with this disease. METHODS: In this retrospective, cross-sectional study, OCT-derived measurements of retinal and choroidal thickness were obtained after manual segmentation using custom software. Choroidal measurements were further subdivided into Haller's large vessel layer (HLVL) and Sattler's medium vessel layer (SMVL), and correlated with clinical parameters. RESULTS: Twenty-one eyes from 21 patients were included. A reduction in hypo-reflective spaces, corresponding to vascular lumens, was observed in HLVL. The mean thickness of both the choroid (233.7 ± 73.3 µm), and HLVL (167.8 ± 53.7 µm), was less than that previously reported for normal eyes. Choroidal thickness expressed as a ratio to retina thickness showed significant correlation to visual acuity (r = 0.58, p = 0.006). This correlation was maintained in the ratio between HLVL and retinal thickness (r = 0.56, p = 0.009), but not in SMVL to retinal thickness (r = 0.352, p = 0.12). CONCLUSIONS: This study reports novel OCT-derived parameters in patients with idiopathic panuveitis. We noted loss of hyporeflectivity in HLVL, and thinning of both HLVL and the choroid as a whole. The observed correlation between visual acuity and the ratio of choroidal to retinal thickness is a strong enhanced depth imaging (EDI)-OCT derived candidate for prospective validation in future studies.