Loss Of Central Acuity Research Articles

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.Case PresentationThe male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.Discussion and conclusionsOur findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

Genotipske, fenotpiske i biohemijske karakteristike Leberove hereditarne optičke neuropatije

Leber hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease presented as a painless, acute, or subacute, usually sequential, loss of central visual acuity. The other eye is typically affected in a few weeks or months (on average in 6 to 8 weeks), while in about 25% of cases, the disease is simultaneously bilateral. Although individual unilateral cases have been reported, in 97% of cases, both eyes are affected within a year. Detailed genetic analysis is crucial in the process of diagnosing LHON. Between 75 - 90% of all the recorded LHON cases occur due to one of the three common mutations in mitochondrial DNA (mtDNA), located on nucleotides 11778, 14484, and 3460, although other, rare mutations with familial occurrence have been associated with LHON as well. More recently, the so-called autosomal recessive LHON has been described, which occurs due to a mutation in the DNAJC30 gene and presents with identical clinical features, but a better visual prognosis compared to mtLHON. This short review aims to present relevant information on the phenotype, genotype, and biochemical characteristics of LHON.

Ridge‐shaped peripapila dry, fluid associated, and self‐resolved fluid associated presentations

Purpose: We aim to describe three different clinical presentations of ridge‐shaped peripapilla.Methods: A series of case reports. Fundus images, autofluorescence (AF), optical coherence tomography (OCT) Angio‐OCT, indocyanine (ICG) and fluorescein angiography (FA) was performed.Results: The first case is a 55‐year‐old woman, that was referred to the clinic due to central visual acuity loss in her left eye. RPE atrophy, and a scleral nasal protrusion (same configuration on both eyes) with a thinned overlying choroid, with subretinal fluid around the peripapillary area and the submacular area was observed on the OCT. FA and ICG with no hotspots, nor any dilated choroidal vascular pattern was observed, nor any signs of a neovascular membrane (NVM). On FA patched hypoAF was observed around the nasal retina. Posterior staphyloma was corroborated with ocular echography. Four months after initial presentation, fluid resolved spontaneously, visual acuity improved, but fundus pigmentary defects remained unchanged. The second case is a 60 year‐old woman (OS), peripapillary subretinal fluid was observed on the oct, choroidal thinning and scleral protrusion nasal to the optic disc. The third case, a 70‐year‐old male (OD), showed a temporal whitish lesion, engorged scleral protrusion was seen on oct, with overlying RPE atrophy, very thinned choroid and retina, without subretinal fluid.Conclusions: Pathologic myopia is defined as myopic refractive error greater than −6.00 diopters. Many chorioretinal findings have been described regarding this condition, one of these is a ridge shaped peripapilla, a form of scleral protrusion around the optic disc. These patients presented on the fluorescein angiography and OCT findings, signs of protrusion of the sclera that seemed to result in overlying choroidal thinning with choroidal blood flow disturbances, and consequent RPE atrophy, leading to the subretinal fluid accumulation.

The Association Between Frailty and Visual Field Loss in US Adults

To describe the association between visual field loss and frailty in a nationally representative cohort of US adults. Retrospective cross-sectional study. The cohort included adults 40 years or older with complete eye examination data from the 2005-2006 and 2007-2008 National Health and Nutrition Examination Surveys (NHANES). Visual field loss (VFL) was determined by frequency doubling technology and a 2-2-1 algorithm. A 36-item deficit accumulation-based frailty index was used to divide subjects into 4 categories of increasing frailty severity. Of the 4897 participants, 4402 (93.2%) had no VFL, 301 (4.1%) had unilateral VFL, and 194 (2.73%) had bilateral VFL. Within the sample, 2 subjects197 (53.1%) were categorized as non-frail, 1659 (31.3%) as vulnerable, 732 (11.3%) as mildly frail, and 312 (4.3%) as most frail. In multivariable models adjusted for demographics, visual acuity, and history of cataract surgery, subjects with unilateral VFL had higher adjusted odds of being in a more frail category (adjusted odds ratio [aOR], 2.07; 95% CI, 1.42-3.02) than subjects without VFL. Subjects with bilateral VFL also had higher odds of a more frail category compared to subjects without VFL (aOR, 1.74; 95% CI, 1.20-2.52). In the 2005-2008 NHANES adult population, VFL is associated with higher odds of frailty, independent of central visual acuity loss. Frail individuals may be more susceptible to diseases that can cause VFL, and/or VFL may predispose to frailty. Additional studies are needed to determine the directionality of this relationship and to assess potential interventions.

Prevalence and Associations of Nonglaucomatous Optic Nerve Atrophy in High Myopia: The Ural Eye and Medical Study

To assess the prevalence of non-glaucomatous optic nerve atrophy (NGOA) and its associations in highly myopic individuals. Population-based study. The Ural Eye and Medical Study included 5899 (80.5%) out of 7328 eligible individuals. The participants underwent an ophthalmological and general examination. NGOA, graded into five arbitrary stages, was characterized by decreased visibility of the retinal nerve fiber layer (RNFL) on fundus photographs and on red-free fundus photographs, neuroretinal rim pallor, abnormally thin retinal arteriole diameter, and abnormally thin peripapillary RNFL as measured by optical coherence tomography. NGOA prevalence and degree. Out of 5709 (96.9%) participants with axial length measurements, 130 (2.3%) individuals were highly myopic, of which 116 (89.2%) participants (age:57.8±11.1 years; range:41.0-84.2 years; axial length:27.0±1.2mm; range:26.01-32.87mm) had available fundus photographs and OCT images and were included into the present study. NGOA prevalence was 34/116 (29.3%;95%CI:21.0,38.0), and mean NGOA degree in eyes with NGOA was 1.7±1.0 arbitrary units. Higher NGOA degree correlated (multivariable analysis; regression coefficient r2:0.59) with longer axial length (beta:0.22; B:0.18; 95%CI:0.05,0.31; P=0.007), wider temporal parapapillary gamma zone width (beta:0.50; B:0.45; 95%CI:0.30,0.59; P<0.001), higher prevalence of diabetes (beta:0.20; B:0.63; 95%CI:0.20,1.06; P=0.005), and higher systolic blood pressure (beta:0.15; B:0.01; 95%CI:0.001,0.02; P=0.03). Higher NGOA prevalence was associated with longer axial length (odds ratio (OR):7.45; 95%CI:2.15,25.7; P=0.002), wider temporal parapapillary gamma zone (OR:6.98; 95%CI:2.61,18.7; P<0.001), and higher systolic blood pressure (OR:1.05; 95%CI:1.01,1.10; P=0.02). In this ethnically mixed population from Russia with an age of 40+ years, high axial myopia showed a relatively high prevalence of NGOA, increasing with longer axial length and wider temporal parapapillary gamma zone. For each millimeter of axial elongation and widening of gamma zone, the odds for NGOA increased 7.45-fold and 6.98-fold, respectively. The axial elongation-associated and gamma zone-related increase in the distance between the retinal ganglion cells and the optic disc may lead to a lengthening and stretching of the retinal ganglion cell axons and may pathogenetically be of importance. In highly myopic eyes, NGOA may be a reason for visual field and central visual acuity loss, unexplainable by myopic macular pathologies.

Retinal involvement in mitochondrial disease

AbstractRetinal involvement in mitochondrial disease is a variable feature of mitochondrial dysfunction. The retinal pigment epithelium and photoreceptor layers can both be affected. It manifests with signs ranging from asymptomatic peripheral salt‐and‐pepper retinopathy to classic bone‐spicule pigmentary changes. The consequences can be progressive mild or severe visual field constriction and central visual acuity loss. The pathophysiological mechanisms involved in retinal dysfunction in mitochondrial disease are still being elucidated and may include a range of metabolic and bioenergetic defects.Mitochondrial conditions affecting the eye that display prominent outer retinal involvement include.(a) mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) secondary to the m.3243A &gt; G mtDNA mutation in MT‐TL1,(b) neuropathy, ataxia and retinitis pigmentosa (NARP) secondary to the m.8993 T &gt; G mtDNA mutation in MT‐ATP6,(c) chronic progressive external ophthalmoplegia (CPEO), in particular the Kearns‐Sayre syndrome (KSS) secondary to single large‐scale mtDNA deletions, and.(d) some newer entities, such as optic neuropathy and pigmentary retinopathy seen in patients with mutations in the gene SSBP1.The features and diagnostic pathway for these conditions will be illustrated and discussed.

Color Vision Pathway Follows the Expansion Repeats in SCA7

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by gene ataxin7 mutation with a polymorphic CAG repeat tract that falls in first axon. The gene which encodes ataxin7 normally contains a ten CAG repeat tract starting a codon 30, in affected patients the CAG repeat tract expands from 37 to 250 triplets, decreasing the transcription of an antisense non-coding RNA. Clinically SCA7 is characterized by progressive cerebellar ataxia, slow saccadic eye movements and progressive blindness. SCA7 neurotoxicity can be showed by the cone-rod dystrophy which follows in the generations the CAG repeats expansions in the affected patients. As retinal disease progresses in SCA7, the photoreceptors cells do become involved, and then loss of central visual acuity proceeds to complete blindness. The presence in the long run of the altered cone function, allows SCA7 to be classified as a cone dystrophy type of retinal degeneration [1]. Considering the X-linked inheritance of color vision deficiency, fixed sampling of only males, that compensation’s phenomenon in the heterozygous females [2], which can hid a real acquired color vision deficiency. The acquired color vision deficiency is real in the males where the anomaly has not hidden, and due to this reason we suggest sampling only male patients when color vision has studied both in neurological and metabolic diseases [3].

Multifocal Electroretinogram, Central Macula Thickness and Visual Acuity in Diabetic Macular Edema Following Intravitreal Injection of anti-VEGF

Introduction : Diabetic Retinopathy (DR) is one of the major cause of visual acuity deterioration in diabetic patients. The loss of central visual acuity in diabetic patients are mainly due to macula edema, which is found in 29% diabetic patients with the over 20 years duration of disease. The aim of this study is to evaluate and investigate the possible correlation among changes of visual acuity (VA), central macular thickness (CMT) using Spectral Domain Optical Coherence Tomography (SD-OCT). Electrophysiological responses using multifocal electroretinography (MfERG) in diabetic macular edema (DME) following intravitreal injection of bevacizumab.&#x0D; Methods: Single arm clinical trial. Thirty-three eyes of 33 DME patients (16 non-proliferative diabetic retinopathy and 17 non-high-risk proliferative diabetic retinopathy), receives intravitreal bevacizumab 1,25mg. All patients underwent complete ophthalmic examination including ETDRS VA testing, Sixty-one scaled hexagon MfERG and SD-OCT scan at baseline, 1-week and 1-month post-injection. Components of the first order kernel (N1, N2 and P1) in central 2o were measured.&#x0D; Result : MfERG showed reduced P1 amplitude (P&lt;0.05) at 1-week after injection followed by increased P1 amplitude (P&gt;0.05) at 1-month after treatment as compared to the baseline in all subjects. There was 19% improvement CMT and 0.2Logmar VA improvement in 1-month post-injection compared to the baseline (P&lt;005). This study showed no serious ocular adverse effects. There was no significant correlation between changes in visual acuity with changes in CMT or other MfERG parameters.&#x0D; Conclusion: Intravitreal injection bevacizumab resulting in improved VA, reduction in CMT and mild improvement in the MfERG responses. Although VA changes did not correlate with reduced CMT nor with improved responses of MfERG, the combined use of SD-OCT and MfERG may be used to evaluate macular function in DME patient with worsened visual acuity post anti-VEGF injection.

Clinical characteristics and research progress on the treatment of mitochondrial optic neuropathy

Mitochondrial optic neuropathy (MON) describes a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells. Pathogenesis of MON includes genetic factors, such as Leber hereditary optic neuropathy and dominant optic atrophy, or acquired factors, such as drug intoxication and nutritional deficiencies, or the combination of both genetic factors and acquired factors. Regardless of different causes, MON shares similar features including bilateral central visual acuity loss, equally normal or slightly sluggish reaction of pupils to light and so on. Many novel therapies, such as pharmacological strategies, genetic therapy and stem cell therapy, are being widely studied in order to limit or reverse the damage of retinal ganglion cells. This article review the pathogenesis, clinical manifestations, ancillary testing, differential diagnosis and treatment progress of MON. (Chin J Ophthalmol, 2021, 57: 386-390).

Retinitis Pigmentosa; Epidemiology, Pathophysiology, and Classification

Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration. It primarily affects rods and then cone photoreceptors. RP manifests with night blindness and concentric visual field loss, reflecting the dysfunction of rod photoreceptors. Central visual acuity loss occurs last period of disease due to cone dysfunction; otherwise, macula involvements like cystoid macular edema. Classically described fundus appearance of RP includes mottling and granularity of the retina pigment epithelium, bone spicule intraretinal pigmentation, attenuated retinal vessels, and optic disc head pallor. RP can be transmitted as Mendelian’s an autosomal dominant, autosomal recessive, or X-linked trait. Mitochondrial or digenic forms also rarely have been described. However, the sporadic or simplex form is the most commonly seen in the clinic. Recently great progress has been made in the identification of the causative genes. This review presents a comprehensive overview of the clinical, genetic, and fundus photography, optical coherence tomography, fundus autofluorescence, microperimetry dark adaptometer, and ocular electrophysiology characteristics of RP.

Risk of Inflammation, Retinal Vasculitis, and Retinal Occlusion–Related Events with Brolucizumab: Post Hoc Review of HAWK and HARRIER

An independent Safety Review Committee (SRC), supported by Novartis Pharma AG, analyzed investigator-reported cases of intraocular inflammation (IOI), endophthalmitis, and retinal arterial occlusion in the phase 3 HAWK and HARRIER trials of brolucizumab versus aflibercept in neovascular age-related macular degeneration (nAMD). A post hoc analysis of a subset of data from two 2-year, double-masked, multicenter, active-controlled randomized phase 3 trials (NCT02307682, NCT02434328). Patients (N= 1817) with untreated, active choroidal neovascularization due to age-related macular degeneration in the study eye were randomized and treated in HAWK/HARRIER. The SRC reviewed data from cases of investigator-reported IOI (60/1088 brolucizumab-treated eyes; 8/729 aflibercept-treated eyes). The SRC received details and images (color fundus photography, fluorescein angiography, and OCT) for all investigator-determined cases of IOI, retinal arterial occlusion, and endophthalmitis. Cases were reviewed in detail by ≥2 readers, then adjudicated by the SRC as a group. Within this patient subset: incidence of IOI, signs and incidence of retinal vasculitis and/or retinal vascular occlusion, and visual acuity loss; time since first brolucizumab injection to IOI event onset; and frequency of visual acuity loss after brolucizumab injection by time of first IOI event onset. Fifty brolucizumab-treated eyes were considered to have definite/probable drug-related events within the spectrum of IOI, retinal vasculitis, and/or vascular occlusion. On the basis of these cases, incidence of definite/probable IOI was 4.6% (IOI+ vasculitis, 3.3%; IOI+ vasculitis+ occlusion, 2.1%). There were 8 cases (incidence 0.74%) of at least moderate visual acuity loss (≥15 ETDRS letters) in eyes with IOI (7 in eyes with IOI+ vasculitis+ occlusion). Of the 8 cases, 5 experienced their first IOI-related event within 3 months of the first brolucizumab injection (increasing to 7/8 within 6 months). Incidence of IOI in aflibercept-treated eyes was 1.1%, with at least moderate visual acuity loss in 0.14%. This analysis of IOI cases after brolucizumab injection identified signs of retinal vasculitis with or without retinal vascular occlusion and an associated risk of visual acuity loss. The findings will help physicians to evaluate the risks and benefits of brolucizumab treatment for nAMD.

Nutritional Optic Neuropathies: State of the Art and Emerging Evidences.

Nutritional optic neuropathy is a cause of bilateral, symmetrical, and progressive visual impairment with loss of central visual acuity and contrast sensitivity, dyschromatopsia, and a central or centrocecal scotoma. The clinical features are not pathognomonic, since hereditary and toxic forms share similar signs and symptoms. It is becoming increasingly common due to the widespread of bariatric surgery and strict vegetarian or vegan diets, so even the scientific interest has recently increased. In particular, recent studies have focused on possible pathogenetic mechanisms, and on novel diagnostic and therapeutic strategies in order to prevent the onset, make a prompt diagnosis and an accurate nutritional supplementation, and to avoid irreversible optic nerve atrophy. Nowadays, there is clear evidence of the role of cobalamin, folic acid, thiamine, and copper, whereas further studies are needed to define the role of niacin, riboflavin, and pyridoxine. This review aims to summarize the etiology, diagnosis, and treatment of nutritional optic neuropathy, and it is addressed not only to ophthalmologists, but to all physicians who could come in contact with a patient with a possible nutritional optic neuropathy, being a fundamental multidisciplinary approach.

Managed care opportunities and approaches to select treatment for sight preservation.

Neovascular (or wet) age-related macular degeneration (AMD) affects more than 10% of people older than 65 years in North America, Europe, Australia, and Asia. It is estimated that about 11 million Americans have some form of AMD, with that number expected to double by 2050. Approximately 20% of patients will advance from a nonneovascular form of the disease to neovascular AMD, which is associated with central visual acuity loss that can result in severe visual impairment and blindness. Improvements in vision preservation and quality of life require regular clinical visits for intravitreal therapy, which, while effective, come at high cost and potential financial strain, often complicated by the fact that most patients with the disease will be covered by Medicare and subject to the regulations and restrictions within their insurance plans. The requirement for frequent treatment also threatens adherence to therapy, and many patients do not follow up clinically as advised. The confluence of high-cost drug therapy and growing demand for treatment of a sight-threatening disease creates a mandate that managed care professionals and payers focus on current and emerging management options in neovascular AMD and on how to administer therapies in both a clinically responsible and cost-effective manner to diminish risk of vision loss and improve overall patient outcomes.

Doyne honeycomb retinal dystrophy \u2013 functional improvement following subthreshold nanopulse laser treatment: a case report

BackgroundBased on phenotypic similarities between age-related macular degeneration and the autosomal disorder Doyne honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 months. The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy.Case presentationA 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye.A safety examination, carried out 7 days after treatment, and clinical follow-up, conducted 60 days following laser treatment, showed improvement of visual acuity from baseline by two letters and a subjective improvement of blurring. While no apparent morphological changes were found on fundoscopy, increased autofluorescence in the treated eye was observed on imaging. In addition, 2 months after nanopulse subthreshold laser treatment, rod-mediated and cone-mediated full-field electroretinography b-wave amplitudes showed an increase from baseline in both the treated eye (300%) and untreated eye (50%). At 2 months after nanopulse subthreshold laser treatment, multifocal electroretinograms showed improvement. Acuity and full-field electroretinography improvement persisted at 6-month follow-up.ConclusionsSustained improvements in retinal function on electroretinography persisted in both eyes 6 months after treatment, suggesting an enhancement of phototransduction and retinoid recycling induced by nanopulse subthreshold laser treatment. The functional improvement observed in the untreated eye is hypothesized to arise from an increased expression and release of metalloproteinases that circulate systemically.

The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy.

The photopic negative response (PhNR) is a slow negative component of a flash photopic full-field ERG that has been shown to be specific for retinal ganglion cell (RGC) activity. Direct evaluation of RGC function is desirable in patients with Leber's hereditary optic neuropathy (LHON) in which the loss of central acuity can make it difficult to monitor patients with standard metrics. The purpose of this study was to evaluate the use of PhNR as an objective noninvasive clinical metric in LHON. Full-field photopic ERG recordings were collected in subjects with the mt.11778G>A/ND4 LHON mutation using a red on blue stimulus. The PhNR was identified using a computer-based automated detection system, and data were manually examined to remove movement artifacts. The PhNR amplitude was compared between controls (n = 13), carriers (n = 17), and affected (n = 6). Mean PhNR amplitude decreased significantly across groups (P < 0.0001). Post hoc Tukey's test revealed a significant decrease in PhNR amplitude between carriers and controls (P < 0.05) and between carriers and affected (P < 0.01). We are able to demonstrate that the PhNR amplitude is significantly decreased in patients affected by LHON compared to carriers in a well-described pedigree. Surprisingly, there was also a decrease in PhNR in carriers, suggesting potential subclinical RGC dysfunction in some carriers. This is important in patients affected with LHON who typically have a dense central scotoma. The PhNR may be a useful objective outcome measure for future clinical trials.

Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON)

PurposeLHON is a mitochondrial disease resulting in progressive, severe central vision loss, which in &gt;95% of patients is characterized by 1 of 3 primary mitochondrial DNA mutations. However, further rare mutations have also been identified. To date the only treatment approved for LHON is idebenone, which is safe and effective at a dose of 900 mg/day; however, there is little information about its use in patients with rare mutations.MethodsThe Expanded Access Program (EAP) assessed idebenone's therapeutic potential in patients with onset of symptoms within 1 year prior to enrollment, in a real‐world setting. Efficacy was assessed as clinically relevant recovery (CRR) or clinically relevant stabilization (CRS). CRR is defined as improvement from off‐chart to reading 5 letters on the ETDRS chart, or as an improvement of 10 letters. CRS is defined as maintenance of VA &lt;1.0 logMAR (20/200).ResultsOf 111 patients, 7 carried a rare mutation (A14495G, C3461T, G13051A, G3958A, T14487C, T4216C and T11253C+A14970G). The median age was 16.7 years, 57% were female and the time since onset was 2.8 months at the start of treatment. Patients presented with best visual acuity (VA) from 0.2 to 1.3 logMAR, and 3 patients presented with both eyes &lt;1.0 logMAR at baseline (BL). One patient had only BL data currently available while 6 provided follow‐up data, with a median treatment duration of 9.2 months at last observation. All 6 experienced a CRR (10/12 eyes total) and the range for magnitude of recovery was between 2 and 13 lines on the ETDRS chart. The 2 eyes which did not experience CRR maintained VA &lt;1.0 logMAR at last observation.ConclusionsLHON patients harboring rare mitochondrial mutations who received early treatment with idebenone presented with moderate VA loss at BL and experienced a very favorable outcome. All patients showed recovery of vision.

OPTICAL COHERENCE TOMOGRAPHIC ANGIOGRAPHY IN CENTRAL SEROUS CHORIORETINOPATHY.

Using optical coherence tomographic angiography (OCT-angiography), we examined the vasculature of the choriocapillaris in patients with central serous chorioretinopathy (CSC). The prospective observational clinical study included patients with CSC defined by painless loss of central visual acuity and presence of a serous macular detachment as visualized by spectral-domain OCT. All eyes underwent OCT-angiography. Subfoveal choroidal thickness and choriocapillaris width were measured. The study included 26 eyes of 21 patients with a mean age of 47.0 ± 7.9 years (range: 34-65 years). All 26 eyes showed an image pattern of high signal intensity, and 21 eyes additionally demonstrated dilated capillaries in the OCT-angio images. The areas showing abnormalities in the OCT-angiography were congruent with leaking areas in fluorescein angiography or areas with hyperpermeability in indocyanine green angiography. Among 16 patients with unilateral CSC, 1 patient showed a high intensity pattern in the OCT-angiogram in the contralateral, clinically unaffected eye. Parallel to thicker choroidal thickness measurements in affected eyes as compared with contralateral unaffected eyes in unilateral CSC, OCT-angiography revealed significantly thicker choriocapillaris measurements in the affected eyes. Conventional fluorescein angiography did not demonstrate leakage in 14 of 18 eyes with clinically diagnosed CSC. Optical coherence tomographic angiography showed an image pattern of high signal intensity in all eyes with CSC and dilated vessels in the choriocapillaris in most eyes with clinically diagnosed CSC. The results indicate that OCT-angiography may become a noninvasive valuable tool for the diagnosis of CSC in particular and for the diagnosis of macular disorders in general.

Visual recovery after retinal detachment with macula-off: is surgery within the first 72 h better than after?

AimsTo investigate the influence of lag time between the onset of central visual acuity loss and surgical intervention of macula-off retinal detachment.MethodsThis retrospective case series examined all consecutively treated eyes...

An Unusual Giant Brain Tumor: From where is it starting?

A 77-year-old woman presented to our hospital after a progressive incoming of confusion. The clinical examination revealed a moderate loss of visual acuity but no other neurological symptoms, particularly no headaches. Otherwise her general medical status was good. A computed tomographic scan (Figure 1) showed a large deep frontal abnormality that relevantly shifted the ventricles and the frontal lobe. Then, magnetic resonance imaging (Figures 2 and 3) discovered a giant tumor extending from the sella turcica into the third and left lateral ventricle. Its size was measured at 71 by 59 by 53 mm in axial, frontal and sagittal diameters. The gadolinium enhancement was homogeneous except for top cystic portions. There is another little tumor on the ipsilateral frontal convexity with similar MRI signal. Blood parameters were concordant with an isolated corticotropic deficiency without any other hormonal disorders. Ophthalmologic examination showed a bi-temporal hemianopia but no papilledema. A giant non-functional pituitary adenoma was strongly suspected. Thus, we performed a neurosurgical open craniotomy to achieve a near-total tumor removal with optic decompression. There were no complications and the pathologist confirmed a pituitary adenoma, with a grade 2b of invasiveness and proliferation markers (mitosis: 4, Ki-67: 3.5%, p53:1). Otherwise, the little convexity tumor was removed in the same time and it was a meningioma of grade I of the WHO classification. The symptoms slowly improved allowing the patient to be discharged at home. Finally, this unusual giant brain tumor started from the sella and grew up until the left intra-ventricular frontal space since a lot of years without any symptoms.

Long-term (60-month) results for the implantable miniature telescope: efficacy and safety outcomes stratified by age in patients with end-stage age-related macular degeneration.

BackgroundThe purpose of this study was to evaluate the long-term results of an implantable miniature telescope (IMT) in patients with bilateral, end-stage, age-related macular degeneration (AMD).MethodsA prospective, open-label, multicenter clinical trial with fellow eye controls enrolled 217 patients (mean age 76 years) with AMD and moderate-to-profound bilateral central visual acuity loss (20/80–20/800) resulting from untreatable geographic atrophy, disciform scars, or both. A subgroup analysis was performed with stratification for age (patient age 65 to <75 years [group 1; n=70] and patient age ≥75 years [group 2; n=127]), with a comparative evaluation of change in best-corrected distance visual acuity (BCDVA), quality of life, ocular complications from surgery, adverse events, and endothelial cell density (ECD). Follow-up in an extension study was 60 months.ResultsData were available for 22, 38, and 31 patients in group 1 and 42, 46, and 32 patients in group 2 at 36, 48, and 60 months, respectively. Mean BCDVA improvement from baseline to 60 months was 2.41±2.69 lines in all patients (n=76), with 2.64±2.55 lines in group 1 and 2.09±2.88 lines in group 2. Quality of life scores were significantly higher in group 1. The most common significant surgery-related ocular complications in group 1 were iritis >30 days after surgery (7/70; 10%) and persistent corneal edema (3/70; 4.3%); and in group 2 were a decrease in BCDVA in the implanted eye or IMT removal (10/127 each; 7.9%), corneal edema >30 days after surgery (9/127; 7.1%), and persistent corneal edema (6/127; 4.7%). Significant adverse events included four corneal transplants, comprising two (2.9%) in group 1 and two (1.6%) in group 2. At 60 months, one patient in group 1 (3.2%) and three patients in group 2 (9.4%) had lost ≥2 lines of vision. The IMT was removed in one (1.4%) and ten (7.9%) patients in group 1 and group 2, respectively. Mean ECD loss was 20% at 3 months. Chronic loss was 3% per year. ECD loss was less in group 1 than in group 2 (35% versus 40%, respectively) at 60 months.ConclusionLong-term results show substantial retention of improvement in BDCVA. Chronic ECD loss was consistent with that reported for conventional intraocular lenses. The IMT performed as well in group 1 (the younger group) as it did in group 2 through month 60. Younger patients retained more vision than their older counterparts and had fewer adverse events. Although not a specified outcome for this study, patients younger than 65 years also fared better than those in group 2 and retained more vision with fewer adverse events through month 60.