Vitelliform Material Research Articles

LeptoVitelliform Maculopathy: delineating a distinct clinical entity from acquired vitelliform lesions.

To characterize acquired vitelliform lesions associated with leptochoroid (i.e., diffuse choroidal thinning) and reticular pseudodrusen (RPD) and compare this phenotype to the acquired vitelliform lesion (AVL) in the dystrophic spectrum. This retrospective, observational case-control study enrolled 56 patients (56 eyes) affected by vitelliform lesions (AVL), including 27 patients with AVL associated with RPD and leptochoroid (i.e., choroidal thinning) referred to as LeptoVitelliform Maculopathy (LVM), and 29 AVL patients without other funduscopic abnormalities. The main structural features analysed were the integrity of the external limiting membrane (ELM), ellipsoid zone (EZ), and retinal pigment epithelium (RPE), the presence of hyporeflective spaces, and hypertransmission. Choroidal vascular index (CVI) was calculated using ImageJ software. Patients with LVM were 6.69 years older and presented smaller vitelliform lesions considering both vertical (P < 0.001) and horizontal diameters (P < 0.001) with a similar visual impairment compared to the AVL group (P = 0.27). The LVM subgroup showed a greater alteration of the ELM (p < 0.001) and choroidal hypertransmission (i = 0.007), accompanied by less frequent RPE bumps (P = 0.001) and hyporeflective spaces within the vitelliform material (P = 0.002). Furthermore, the LVM group presented a lower CVI with a significant attenuation on both the luminal and stromal compartments compared to AVL (P < 0.001, both). The phenotypic combination of subretinal vitelliform lesion and RPD may delineate a distinct phenotype that shares with AVL only the presence of vitelliform material and a similar visual deterioration. The presented findings of LVM highlight significant structural and microvascular alterations that may hold prognostic relevance, warranting future longitudinal studies.

Макулярная неоваскуляризация при вителлиформной дистрофии: анализ эффективности антиангиогенной терапии на примере клинических случаев

Best vitelliform macular dystrophy (BVMD) is caused by BEST1 mutation and leads to the accumulation of vitelliform material in the subretinal space. The formation of subretinal neovascular membrane can be one of BVMD complications. Herein, we discuss the criteria for initiating anti-VEGF therapy and efficacy assessment in two patients (3 eyes) with vitelliform macular dystrophy. Keyword: macular neovascularization, vitelliform macular dystrophy, optical coherence tomography, anti-VEGF therapy

Uncommon case of basal linear deposits and its tomographic and indocyanine green angiography findings

Purpose: To report a rare and uncommon case of patient presenting drusen associated to basal linear deposit (BlinD) and macular vitelliform material (VM).Methods: Patient was assessed with multimodal imaging: fundus autofluorescence (FAF), indocyanine green angiography (ICGA) and enhanced depth imaging optical coherence tomography (EDI‐OCT). Electroretinogram (ERG) and visually evoked potentials (VEP) along with systemic evaluation were also performed.Results: A 52‐year‐old woman consulted for ophthalmological check‐up, without any complaint. Past history revealed breast cancer treated with chemotherapy and hormone therapy, currently in remission. Visual acuity was 10/10 in the right eye (RE) and 8/10 in the left eye (LE). Slit‐lamp anterior examination was unremarkable. Fundus examination revealed multiple interlaced round yellowish lesions mainly in the posterior pole associated to a pigmented macular lesion on the LE. FAF showed bilateral macular hypoautofluorescent lesions. ICGA highlighted bilateral scattered hypofluorescent spots (SHS) mainly noted in the late phase, distributed throughout the posterior pole, with partial confluence. EDI‐OCT featured the presence of drusenoid retinal pigment epithelium (RPE) elevation along with a thick and distinctive hyperreflective band between the RPE and Bruch's membrane (BM). Associated bilateral hyperreflective VM were also detected. ERG and VPE were unremarkable. Patient underwent systemic evaluation insuring absence of cancer recurrence, choroidal metastases, paraneoplastic syndrome or any systemic disease.Conclusions: BlinD is defined as a deposit located between the RPE and the BM. Recently, this entity has been correlated with SHS seen in late stages on ICGA and might be a precursor sign of age‐related macular degeneration. Associations between drusen and BlinD and between drusen and VM have been previously reported; however, the concomitance of these three features has, to our knowledge, never been reported.

Choroidal Nevus Associated with Vitelliform Deposition in a Patient with Autosomal Dominant Best Dystrophy.

To describe the clinical, optical coherence tomography (OCT), fundus autofluorescence and ultrasound findings of a patient with a choroidal nevus actively exuding vitelliform material in the setting of Autosomal Dominant Best dystrophy (BD). The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. A 71-year-old male with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic exam showed a small pigmented choroidal nevus in the temporal periphery. Over a 3-year period the nevus developed progressive deposition of vitelliform material along its inferior border. Meanwhile, OCT and fundus photography showed only slight growth. Ultrasound showed no change in height; basal measurements were confounded by the increased vitelliform deposits. Genetic testing confirmed a heterozygous mutation in the BEST1 gene and electrophysiology was consistent with BD. Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implications for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.

IMPG2-Related Maculopathy

PurposeTo investigate the phenotype, variability and penetrance of IMPG2-related maculopathy. DesignRetrospective observational case series. MethodsClinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling. ResultsTwenty-five individuals with a mono-allelic IMPG2 variant were included, 5 of whom were relatives of patients with IMPG2-associated retinitis pigmentosa. In 17 individuals (median age, 52 years; range, 20-72 years), a distinct maculopathy was present and included foveal elevation with or without subretinal vitelliform material or focal atrophy of the retinal pigment epithelium. Best corrected visual acuity (BCVA) was ≥ 20/50 in the better eye (n=15) and 5 patients were asymptomatic. Longitudinal observation (n=8, up to 19 years) demonstrated stable maculopathy (n=3), partial/complete resorption (n=4) or increase (n=1) of the subretinal material, with overall stable vision (n=6). The remaining 8 individuals (median age, 58 years; range, 43-83 years; BCVA ≥ 20/25) showed no manifest maculopathy and were identified through segregation analysis. All 8 were asymptomatic, with minimal foveal changes observed on optical coherence tomography in 3 cases. Eighteen different variants were detected, 11 of them truncating. Molecular modeling of five missense variants, c.727G>C, c.1124C>A, c.2816T>A, c.3047T>C and c.3193G>A supported the hypothesis that these have a loss-of-function effect. ConclusionsMono-allelic IMPG2 variants may result in haplo-insufficiency manifesting as a maculopathy with variable penetrance and expressivity. Family members of patients with IMPG2-related retinitis pigmentosa may present with vitelliform lesions. The maculopathy often remains limited to the fovea and is usually associated with moderate visual impairment.

Вителлиформная макулярная дистрофия и возрастная макулярная дегенерация: сходство и различия при их выявлении

Background. Adult-onset vitelliform macular dystrophy is one of the pathologies that successfully masks as age-related macular degeneration. Purpose. To assess the incidence of adult-onset vitelliform macular dystrophy and its clinical manifestations. Material and methods. We analyzed frequency cases of adult-onset vitelliform macular dystrophy among 1000 patients aged 40 years and older who applied with various eye complaints. Results. Adult-onset vitelliform macular dystrophy was found in 2 patients – men 43 and 66 years old. In the macular area of both eyes of the 1st patient, rounded yellow lesions in the foveola, local detachment of neuroepithelium, optical dense material deposit on the outer segments of photoreceptors were detected (vitelliruptive stage of adult-onset vitelliform macular dystrophy). On the left eye of the 2nd patient in the foveola, a single rounded yellow focus of 200 µm was determined, optical dense vitelliform material presence between the layers of the pigment epithelium and neuroepithelium without signs of choroidal neovascularization was detected (vitelliform stage of adult-onset vitelliform macular dystrophy). Conclusion. The incidence of adult-onset vitelliform macular dystrophy among patients with various ocular pathologies was 0.2 %. Morphological changes in the macula consist in presence of deposits of vitelliform material, localized between the layers of neuroepithelium and retinal pigment epithelium. Keywords: adult-onset vitelliform macular dystrophy; age-related macular degeneration; optical dense vitelliform material

Optical Coherence Tomography Findings in a Patient with Adult-Onset Foveomacular Vitelliform Dystrophy

We present a case of adult-onset foveomacular vitelliform dystrophy (AFMVD) in a 73-year-old man. Ophthalmoscopy revealed discoloration in both eyes, but typical subretinal depositions of yellowish material were not observed. OCT revealed epiretinal membrane in the right eye. Hyper-reflective subretinal deposits at the level of the retinal pigment epithelium in the left eye. Moreover, hyper-reflective deposits were also detected at the sub-ellipsoid zone and intraretinal layers. Based on these findings, we diagnosed our patient with AFMVD in vitelliruptive phase. OCT was useful in visualizing the location of the vitelliform material in a patient with AFMVD.

Evaluation of incidence of the adult-onset vitelliform macular dystrophy among patients in Far Eastern Federal District of Russia

BACKGROUND: Adult-onset vitelliform macular dystrophy is one of the pathologic conditions , which successfully masks as age-related macular degeneration.&#x0D; AIM: To assess the incidence of the adult-onset vitelliform macular dystrophy among patients of a major ophthalmological clinic in the Far Eastern Federal District of Russia.&#x0D; MATERIALS AND METHODS: We revealed the cases of adult-onset vitelliform macular dystrophy among 1000 patients aged 40 years and older who addressed for various ocular complaints.&#x0D; RESULTS: Adult-onset vitelliform macular dystrophy was found in 2 male patients aged 43 and 66 years. In the macular area of both eyes of the 1st patient, round yellow lesions in the foveola, local detachment of neuroepithelium, optically dense material deposits on the outer photoreceptor segments were detected (vitelliruptive stage of adult-onset vitelliform macular dystrophy). In the left eye of the 2nd patient, in the foveola, a single round yellow focus of 200 m was found, optically dense vitelliform material was detected between the pigment epithelium and neuroepithelium layers without any signs of choroidal neovascularization (vitelliform stage of adult-onset vitelliform macular dystrophy).&#x0D; CONCLUSIONS: The incidence of adult-onset vitelliform macular dystrophy among patients with various ocular conditions was 0.2%. Morphological changes in the macula consist in presence of deposits of vitelliform material, localized between the neuroepithelium and retinal pigment epithelium layers.

Clinical and instrumental characteristics of various forms of vitelliform dystrophies occurring in adult patient

Background. Vitelliform dystrophies, first detected in adulthood, may create complications in diagnosis, especially with partial or almost complete destruction of vitelliform material, disguising as various types of macular pathology, such as central serous chorioretinopathy, age-related macular degeneration.The aim: to study the clinical and instrumental characteristics of the most common forms of vitelliform dystrophies occurring in adulthood.Materials and methods. Sixty eyes of adult patients with vitelliform dystrophies were included in the study. All patients underwent ophthalmologic examination including family history, best corrected visual acuity, biomicroscopy, and multimodal imaging including fundus photo, SD-OCT, OCT-A, BAF, FA, ICGA. After examination, the patients were divided according to various types of vitelliform dystrophies. The instrumental and diagnostic characteristics of the identified forms of vitelliform dystrophies were studied, taking into account the stage of the process, based on the analysis of clinical data, as well as the results of the most accessible non-invasive research methods, such as SD-OCT, OCT-A, BAF.Results. The average age of patients was 52.40 ± 20.62 years, there were 13 (43.3 %) women and 17 (56.7 %) men. In 96.67 % of cases, the disease was bilateral. Genetically determined forms of vitelliform dystrophies were more common in sporadic forms. In the studied cohort, 43.3 % were patients with Best vitelliform macular dystrophy, 13.3 % – with autosomal recessive bestrophinopathy, 43.3 % – with pattern dystrophies. In all patients, according to structural OCT data, neuroepithelium detachment, residual vitelliform material in the form of massive deposits, deposits in the form of “stalactites”, “fringes” were determined. In all cases of vitelliform dystrophies, atrophic changes were detected, which intensified with an increase in the duration of the disease. Hyperautofluorescence of the residual vitelliform material in the form of “beads” was often accompanied in the later stages of the disease.Conclusion. Cases of vitelliform dystrophies identified in adults with partially resorbed vitelliform material require a thorough analysis of structural optical coherence tomography and fundus autofluorescence.

Acute exudative polymorphous vitelliform maculopathy during pembrolizumab treatment for metastatic melanoma: a case report

BackgroundThe use of immunomodulating therapy to treat various cancers has been on the rise and these immune checkpoint inhibitors are known to cause ocular side effects. In this article a case of acute exudative polymorphous vitelliform maculopathy (AEPVM) is reported which developed during a first line treatment with pembrolizumab.Case presentationA 54-year-old woman was referred because of blurry vision in both eyes with a yellow spot in the central visual field of the left eye. These symptoms started after four treatments with pembrolizumab (a monoclonal antibody against the programmed cell death receptor-1) for a metastatic recurrent vaginal mucosal melanoma. Her best corrected visual acuity was 10/10 in both eyes with a correction of + 2.00 bilaterally. There were no inflammatory findings in the anterior segment or the vitreous. Fundoscopy revealed an attenuation of the foveal reflex with subtle yellow-white subretinal macular deposits (vitelliform lesions) in both eyes. Fluorescein angiography did not show staining or leakage in the mid-phase, neither a late staining. Spectral-domain optical coherence tomography of the macula illustrated bilateral neurosensory retinal detachment with a thick, highly reflective band at the outer photoreceptor segment. En face structural OCT at the level of the photoreceptors showed focal areas of increased signal corresponding to hyperreflective vitelliform material. The treatment with pembrolizumab was ceased immediately. During the following visits we slowly saw an improvement of the neurosensory retinal detachment. After almost four months a total resolution of the subretinal fluid was visualized in both eyes without the use of additional treatment, though the vitelliform deposits persisted.ConclusionsThe development of AEPVM in melanoma patients could be triggered by treatment with Pembrolizumab. Pembrolizumab has the potential to disturb indirectly the retinal pigment epithelium homeostasis with accumulation of lipofuscin deposits and subretinal fluid, both signs of AEPVM.

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials

PurposeTo investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults.DesignRetrospective case series.ParticipantsPatients with a detailed clinical phenotype consistent with ARB, biallelic likely disease-causing sequence variants in the BEST1 gene, or both identified at a single tertiary referral center.MethodsReview of case notes, retinal imaging (color fundus photography, fundus autofluorescence, OCT), electrophysiologic assessment, and molecular genetic testing.Main Outcome MeasuresVisual acuity (VA), retinal imaging, and electrophysiologic changes over time.ResultsFifty-six eyes of 28 unrelated patients were included. Compound heterozygous variants were detected in most patients (19/27), with 6 alleles recurring in apparently unrelated individuals, the most common of which was c.422G→A, p.(Arg141His; n = 4 patients). Mean presenting VA was 0.52 ± 0.36 logarithm of the minimum angle of resolution (logMAR), and final VA was 0.81 ± 0.75 logMAR (P = 0.06). The mean rate of change in VA was 0.05 ± 0.13 logMAR/year. A significant change in VA was detected in patients with a follow-up of 5 years or more (n = 18) compared with patients with a follow-up of 5 years or less (n = 10; P = 0.001). Presence of subretinal fluid and vitelliform material were early findings in most patients, and this did not change substantially over time. A reduction in central retinal thickness was detected in most eyes (80.4%) over the course of follow-up. Many patients (10/26) showed evidence of generalized rod and cone system dysfunction. These patients were older (P < 0.001) and had worse VA (P = 0.02) than those with normal full-field electroretinography results.ConclusionsAlthough patients with ARB are presumed to have no functioning bestrophin channels, significant phenotypic heterogeneity is evident. The clinical course is characterized by a progressive loss of vision with a slow rate of decline, providing a wide therapeutic window for anticipated future treatment strategies.

Clear subretinal fluid in a case of non-neovascular early-onset drusen: Swept-source imaging evaluation

A 50-year-old male presented with recent metamorphopsia in the right eye. Fundus examination revealed bilateral multiple cuticular drusen along with few large colloid drusen (phenotype 3 cuticular drusen). No vitelliform material was evident in the macula in either eye. Fluorescein angiography (FA), indocyanine green angiography (ICGA) did not demonstrate a macular neovascularization (MNV) in either eye. Swept-source optical coherence tomography (SS-OCT) revealed sub-retinal pigment epithelial (RPE) drusen and a clear space beneath the inter-digitation zone and above the RPE-Bruch's complex. SS-OCTA did not reveal MNV in either eye. The patient was kept under observation, and follow-up at 3 months did not reveal any structural change. Among patients with early-onset drusen, vitelliform detachments may occur due to accumulation of yellow pseudo-vitelliform material. However, serous detachments with an "optically clear" subretinal space can occur by the same mechanism without MNV. Such patients do not merit therapy with anti-vascular endothelial growth factor agents.

Vitelliform changes in the central retina occurring in adults

Introduction. Vitelliform lesions of the central retinal area in adult patients represent a heterogeneous group of diseases. This article describes different variants of vitelliform changes in adults, based on the published literature data.&#x0D; Materials and methods. We have analyzed and described different variants of vitelliform changes in adults, based on literature data, examples from own clinical practice using multimodal approach are included.&#x0D; Discussion. Vitelliform lesions of the central retinal area are can debut at various ages, occurring in mono- or multifocal way, have various stages of degradation of vitelliform material, masquerading as other lesions of the macular area and of the posterior pole. Many of these diseases appear due to mutations in determined genes, though, a fairly large proportion of cases is considered to be sporadic. Nowadays, characteristic signs of different diseases with the vitelliform material are described. But differential diagnosis with other similar diseases (some age-related macular degeneration forms and those of central serous chorioretinopathy) is fairly difficult and requires a multimodal ophthalmologic approach, and in some cases genetic studies.&#x0D; Conclusions. Vitelliform lesions of the central retinal area, occurring in adult patients are a group of diseases that are difficult to diagnose and masquerade themselves as other diseases of the central retina, which requires certain doctors knowledge and ability to carry out a multimodal imaging and prescribe the appropriate treatment if needed.

Maculopathy in Patients with Monoclonal Gammopathy of Undetermined Significance

To describe clinical findings, laboratory values, and treatment response of patients with monoclonal gammopathy of undetermined significance (MGUS) demonstrating neurosensory macular detachment. Retrospective case series. Seven eyes of 4 patients (3 men and 1 woman; age range, 60-81 years) with neurosensory macular detachment, treatment-resistant submacular fluid, and vitelliform material. We retrospectively reviewed the medical and ocular histories, ocular examination findings, retinal imaging, ocular disease course, and laboratory findings in 4 patients with submacular fluid associated with MGUS. Description of the macular findings and treatment courses of 4 patients diagnosed with MGUS maculopathy. Seven eyes of 4 patients demonstrated neurosensory macular detachment with treatment-resistant submacular fluid and vitelliform material. No eyes demonstrated signs of significant hyperviscosity retinopathy. Fluorescein angiography showed no definite leakage in any involved eye. Laboratory evaluation revealed immunoglobulin G MGUS in all 4 patients. All 4 patients were resistant to treatments aimed at resolving the subretinal fluid, including some combination of anti-vascular endothelial growth factor injections, photodynamic therapy, topical dorzolamide, oral dosing of eplerenone or acetazolamide, or some combination thereof. In 3 patients, MGUS underwent malignant transformation 24 to 144 months after diagnosis, in 1 patient to lymphoplasmacytic lymphoma and in 2 patients to multiple myeloma. The fourth patient showed no evidence of malignancy 8 years after diagnosis. Submacular fluid without fluorescein leakage and unresponsive to conventional treatment may suggest an underlying immunoproliferative disorder that we have termed monoclonal gammopathy of macular significance. Given the propensity for monoclonal gammopathy of macular significance to transform into malignant disease in our series, serum protein analysis should be considered in patients with neurosensory macular detachment not attributable to known causes.

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

To describe outer retinal structure in patients with Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT) and correlate these results with best-corrected visual acuity (BCVA) and patient age. Retrospective cross-sectional study. Patients with molecularly confirmed BVMD were compared with normal control subjects (NCs). A complete clinical evaluation was performed, including BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine the stage of the lesion, the central macular thickness (CMT), the foveal outer nuclear layer (ONL) thickness, and tomographic structural changes. Forty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included. Clinical stages (Gass clinical classification) were distributed as follows: 4.8% for stage 1, 23.8% for stage 2, 16.6% for stage 3, 45.2% for stage 4, and 9.5% for stage 5. The presence of subretinal fluid and vitelliform material was noted in 76% and 79% of the BVMD eyes examined, respectively, and was not associated with BCVA modification (P= .758 and P=.968, respectively). The median ONL thickness was significantly lower compared with the NCs (P<.001). BCVA was significantly correlated with stage (R= 0.710; P < .01), age (R= 0.448; P < .01), CMT (R=-0.411; P < .01), and ONL thickness (R=-0.620; P < .01). The disruption of the external limiting membrane and the ellipsoid zone was associated with a decreased BCVA (P < .001 for both). Among the 32 eyes with subretinal detachment, photoreceptor outer segment length was significantly correlated with BCVA (R=-0.467; P < .01) and ONL thickness (R= 0.444; P= < .01). This study shows the correlation between BCVA, age, and spectral-domain OCT features in patients with BVMD. ONL thickness as well as photoreceptor outer segment length are relevant functional correlates and outcome measures to follow photoreceptor impairments and disease progression.

EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.

To investigate the macular changes over time in eyes containing subretinal drusenoid deposits (also known as pseudodrusen) with no drusen >63 µm. A consecutive series of patients were examined with color fundus photography, optical coherence tomography, and autofluorescence imaging with fluorescein angiography used as necessary. Exclusionary criteria included macular neovascularization, history of retinal surgery, pseudoxanthoma elasticum, and drusen >63 µm. There were 85 eyes of 54 patients. The mean age at baseline was 83.6 (±7.8) years, and there were 17 men. The mean follow-up was 5.0 (±2.9) years. At initial optical coherence tomography examination, 12 eyes had extrafoveal atrophy and 17 eyes had vitelliform deposits, which were yellowish white subretinal collections that showed intense hyperautofluorescence. During follow-up, 11 eyes lost vitelliform material. After the disappearance of small deposits, focal hyperpigmentation remained. Loss of larger deposits was associated with noteworthy sequela; six developed subfoveal atrophy and one macular neovascularization close to regressing vitelliform material. Subfoveal geographic atrophy developed in four other eyes without vitelliform material by extension from areas of extrafoveal atrophy. Macular neovascularization developed in seven eyes over follow-up. The CFH Y402H and ARMS2 A69S allele frequencies were 57% and 48.9%, respectively, which is similar to a group of age-related macular degeneration controls. One patient had a novel PRPH2 mutation, but did not have a vitelliform deposit; the remainder had a normal PRPH2 and BEST1 coding sequences. Eyes with subretinal drusenoid deposits and no drusen >63 mm have significant risk for the development of both neovascularization and geographic atrophy, the fundamental components of late age-related macular degeneration. An intermediate step in some eyes was the development of a vitelliform deposit, an entity not traditionally associated with age-related macular degeneration, but in these patients, the material seemed to be an important component of the disease pathophysiology. This vitelliform deposit was not associated with genetic markers for pattern dystrophy or Best disease.

SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY.

To provide a systematic classification of findings regarding the different stages of vitelliform macular dystrophy on spectral domain optical coherence tomography (SD-OCT). Ninety-four eyes of 47 patients were recruited in a prospective cross-sectional study. All patients underwent a complete ophthalmologic examination, including best-corrected visual acuity using Early Treatment Diabetic Retinopathy Study (ETDRS) charts, biomicroscopy, and SD-OCT. The findings assessed included vitelliform material, neurosensory detachment, status of external limiting membrane, ellipsoid zone and retinal pigment epithelium, choroidal excavation, foveal cavitation, choroidal neovascularization, vitreomacular traction, and macular hole. The primary outcome measure was the identification of SD-OCT findings in each vitelliform macular dystrophy stage. Secondary outcomes included the correlations between SD-OCT features and visual acuity changes. The outer retinal layers (external limiting membrane, ellipsoid zone, and retinal pigment epithelium) were found to be more commonly disrupted in Stages 2 to 4 (range: 86%-100%), whereas their absence was more typical of Stage 5 (71%-86%). Vitelliform material was found in 100% of Stages 2 and 3, 93% of Stage 4, and interestingly in 43% of Stage 5. Eyes characterized by vitelliform material showed a greater correlation with higher best-corrected visual acuity than eyes without it (0.35 logarithm of the minimum angle of resolution vs. 0.80 ± 0.36 logarithm of the minimum angle of resolution, approximately 20/45 and 20/125 Snellen equivalent, respectively) (t = 3.726, P < 0.05). Moreover, its absence was associated with a best-corrected visual acuity of 0.5 logarithm of the minimum angle of resolution or worse (approximately 20/63 Snellen equivalent; P < 0.05). Subretinal fluid was more common in Stages 3 and 4 (72.7% and 75%, respectively) than Stages 2 and 5 (P = 0.004). Eyes with subretinal fluid were significantly associated with a visual acuity of 0.2 logarithm of the minimum angle of resolution or worse (approximately 20/32 Snellen equivalent; P = 0.04). Spectral domain optical coherence tomography assessment primarily indicates an outer retinal layer disruption in Stages 2 to 4, along with the presence of vitelliform material extending into the more advanced clinical stages too. Eyes characterized by the persistence of vitelliform material show better best-corrected visual acuity. Future investigations based on a longitudinal follow-up are warranted to correlate SD-OCT modifications with functional responses to identify SD-OCT indicators for prognostic and therapeutic purposes.

Optical coherence tomography in Best vitelliform macular dystrophy.

To analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of vitelliform macular dystrophy (VMD). Thirty-seven patients were prospectively recruited. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), biomicroscopy, and SD-OCT. The examined findings were vitelliform material, neurosensory detachment, intraretinal hyperreflective foci, and the status of external limiting membrane, ellipsoid zone, and retinal pigment epithelium. The primary outcome was the stratification of SD-OCT findings in each VMD stage. Secondary outcomes included the description of different characteristics related to intraretinal hyperreflective foci. Outer retinal layers were preserved almost exclusively in stage 1 (range 70%-100%), whereas their disruption and absence were typical of stages 2 to 4 (83%-100%) and stage 5 (67%-83%), respectively. Vitelliform material was found always in stages 2 and 3, 89% of stage 4, and rarely in stage 5 (33%). Neurosensory detachment was to some extent representative of stages 3 and 4 (80% and 72%, respectively) when compared with the other stages (p<0.001). Hyperreflective foci (16% of all eyes) demonstrated a progressive increase across stages 2 to 4, with slightly reduced figure in stage 5. These foci were located in the outer nuclear and plexiform layers, showed different sizes, and were not associated with a visual acuity reduction (p = 0.64). A progressive deterioration of the outer retinal layers was noticeable in more advanced stages of VMD. The reduction of vitelliform material from stage 3 to 4 was paralleled by an increased evidence of neurosensory detachment. Although showing different size and location, hyperreflective foci did not correlate with worse BCVA.

Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy

To describe the anatomic changes and natural history of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT). Prospective comparative case series. Twenty patients (40 eyes) with molecular confirmation of mutation in the BEST1 gene and 20 age-matched controls were included. Color fundus photographs, fundus autofluorescence, and spectral-domain OCT were obtained, and these findings were compared between the 2 groups. Fifteen of the 20 patients with Best disease had more than 1 visit, and the imaging studies from each visit were compared with each other over time. Evolution of visual acuity and clinical stage of BVMD correlated to OCT measurement parameters, including retinal pigment epithelium (RPE) thickness, central macular thickness, and integrity of the ellipsoid zone. Patients with BVMD demonstrated progressive disorganization and thinning of the submacular RPE on OCT when compared with normal controls. Concurrent with the appearance of "egg-yolk lesions," the OCT showed a cleft in the outer retina, creating an apical and basal separation of retinal layers. The apical complex of the vitelliform lesion eventually degenerated and flattened. Patients with such lesions nevertheless maintained reasonable visual acuity into the advanced vitelleruptive stages despite the disruption of normal anatomic changes. Our study suggests that in BVMD, subretinal vitelliform material accumulation leads to a clear separation of the outer retinal layers. The level at which this cleft forms is a topic of discussion andinterest, with the most likely levels of least resistance being the interdigitation zone or between the RPE and the Bruch's membrane. It is possible that RPE may continue to form a preserved photoreceptor-RPE complex that provides essential nutrients to the photoreceptors and in turn helps patients maintain better than expected visual acuity for years.

Optical coherence tomographic features and correlation with visual acuity in adult-onset foveal vitelliform dystrophy

Purpose: The purpose of the study was to analyze the optical coherence tomographic (OCT) features of adult-onset foveal vitelliform dystrophy (AOFVD) using high-resolution spectral-domain (SD) OCT and to correlate each variable with visual acuity. Design: This was a retrospective, observational case series. Materials and Methods: Patients with a diagnosis of AOFVD based on clinical presentation, autofluorescence, and OCT were included in the study. SD-OCT images were analyzed. The vertical and horizontal basal dimensions of vitelliform material, the thickness of neurosensory retina (NSR) above the lesion, and the integrity of inner segment-outer segment (IS-OS) junction and external limiting membrane (ELM) were assessed, and each was correlated with best-corrected visual acuity. Results: Thirty-six eyes of 25 patients were included in the study. Mean age of patients was 65.39 ± 11.3 years. A weak positive correlation was noted between lesion dimensions and LogMAR visual acuity, but this was not statistically significant. A significant negative correlation was seen between thickness of NSR above the lesion and LogMAR visual acuity, indicating that as the overlying NSR became thinner, vision worsened. Although a worse visual acuity was noted in eyes with disrupted IS-OS junction and ELM, the result was not statistically significant. Conclusion: As the size of the vitelliform material increased, there was progressive thinning of overlying NSR which could lead to worsening of visual acuity.