CHOROIDAL NEVUS ASSOCIATED WITH VITELLIFORM DEPOSITION IN A PATIENT WITH AUTOSOMAL DOMINANT BEST DYSTROPHY.

BACKGROUND/PURPOSE: 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). METHODS: The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. RESULTS: A 71-year-old male patient with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic examination 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. CONCLUSIONS: Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implication for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.

Choroidal neovascularization associated with butterfly-shaped pattern dystrophy - a case report.

The pattern dystrophies (PDs) are a group of primarily autosomal dominant inherited macular diseases that cause the deposition of lipofuscin in retinal pigment epithelium (RPE) and may lead to significant vision loss in later life. Patients can develop choroidal neovascularization (CNV) and/ or geographic atrophy (GA) and for this reason they are often misdiagnosed as age-related macular degeneration (AMD). We presented a case of a 66-year-old patient complaining of vision loss in the right eye (RE) for 8 months. At the initial examination, his best corrected visual acuity (BCVA) was 0.6 in the RE. Optical coherence tomography angiography (OCTA), fundus autofluorescence (FAF) and fundus fluorescein angiography (FFA) allowed to diagnose butterfly-shaped PD in both eyes with choroidal neovascularization (CNV) in the RE. The patient was treated with three intravitreal anti-vascular epithelial growth factor (anti-VEGF, ranibizumab) injections during six weeks intervals, which improved and stabilized the BCVA of the RE to 0.7 during the over two-year observation period. Our report contributes to the still limited data regarding CNV associated with butterfly-shaped PDs and the results of treatment with ranibizumab. Abbreviations: AMD = age-related macular degeneration, anti-VEGF = anti-vascular epithelial growth factor, AOFVD = adult-onset foveomacular vitelliform dystrophy, BCVA = best corrected visual acuity, CNV = choroidal neovascularization, FAF = fundus autofluorescence, FFA = fundus fluorescein angiography, GA = geographic atrophy, LE = left eye, MIDD = maternally inherited diabetes and deafness, OCT = optical coherence tomography, OCTA = optical coherence tomography angiography, OU = oculus uterque, both eyes, PD = pattern dystrophy, PDSFF = pattern dystrophy simulating fundus flavimaculatus, PDT = photodynamic therapy, PRPH2 = peripherine-2, RE = right eye, RPE = retinal pigment epithelium, VA = visual acuity.

Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.

OBJECTIVE: Choroidal neovascularization (CNV) is usually considered to be a late-stage complication in Best vitelliform macular dystrophy (BVMD) and can be difficult to diagnose with fluorescein angiography. This study used swept-source (SS) OCT angiography (OCTA) to evaluate the prevalence of CNV in BVMD, identify structural features associated with CNV, and provide insight into the role of CNV in vitelliform lesion evolution. DESIGN: Institutional review board-approved, retrospective, cross-sectional, and longitudinal study. PARTICIPANTS: Patients with molecularly confirmed BVMD. METHODS: Charts from consecutive patients with BVMD imaged with SS-OCTA (PLEX Elite 9000, Carl-Zeiss Meditec Inc) at the University of Iowa from September 2017 to October 2021 were reviewed. Clinical data, including age, gender, best-corrected visual acuity (BCVA), and treatment with intravitreal anti-VEGF injections were recorded. The presence of CNV on SS-OCTA was determined by expert graders and correlated with structural features, such as interstitial fluid, subretinal fluid, nodular subretinal pillar, focal choroidal excavation (FCE), and subfoveal choroidal thickness, with a P value of < 0.05 considered statistically significant. MAIN OUTCOME MEASURES: Presence of CNV on SS-OCTA and correlation with structural features on SS-OCT. RESULTS: A total of 53 eyes from 27 patients (13 women; 48.1%) were included. The mean age was 45 years (range, 8-79 years), and the mean logarithm of the minimum angle of resolution BCVA was 0.38 (range, 0-1). Choroidal neovascularization was identified on SS-OCTA in 27 eyes (50.9%), of which 63.0% had a vitelliform (Gass stage 2) lesion. In 40.7% (11 of 27) of eyes, there was no prior clinical diagnosis of CNV. Other structural features associated with CNV included FCEs (15.1%, 8 of 53 eyes) and nodular pillars (15.1%, 8 of 53 eyes) (P < 0.01). Seven patients had available longitudinal imaging, and most of these patients had CNV visible on SS-OCTA (71.4%; 10 of 14 eyes). CONCLUSION: Choroidal neovascularization is common in BVMD, including in the early stages of the disease. The presence of FCEs or nodular pillars should heighten the clinical suspicion of CNV, which may accelerate vitelliform lesion evolution. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

ACUTE EXUDATIVE POLYMORPHOUS VITELLIFORM MACULOPATHY ASSOCIATED WITH PRIMARY EPSTEIN-BARR VIRUS INFECTION.

PURPOSE: To report a case of acute exudative polymorphous vitelliform maculopathy associated with primary Epstein-Barr virus infection. METHODS: Multimodal imaging including color fundus photography, spectral-domain optical coherence tomography, blue-light fundus autofluorescence, fluorescein angiography, and indocyanine green angiography. RESULTS: A 24-year-old otherwise healthy woman presented with an acute bilateral visual disturbance associated with cervical lymphadenopathy. Spectral-domain optical coherence tomography showed bilateral foveal serous retinal detachment (SRD) with thickening of the ellipsoid zone throughout the posterior pole corresponding to hyperautofluorescence on fundus autofluorescence, faint diffuse hyperfluorescence on fluorescein angiography without leakage, and mild late hyperfluorescence on indocyanine green angiography. Systemic workup revealed an acute Epstein-Barr virus infection. Within several weeks, multifocal SRDs developed in the macula and paramacula. The SRDs then became increasingly hyperautofluorescent with spectral-domain optical coherence tomography showing subretinal hyperreflective material. This vitelliform material then slowly resolved while the thickness of the surrounding ellipsoid zone normalized. The fluorescein angiography and indocyanine green angiography appeared normal at Month 8. Visual acuity was 20/20 in both eyes at all times. No treatment was initiated. CONCLUSION: Acute exudative polymorphous vitelliform maculopathy may be associated with an acute Epstein-Barr virus infection. Acutely, multimodal imaging revealed findings consistent with RPE dysfunction and reduced photopigment density. Subsequent accumulation of vitelliform material gradually resolved over an 8-month follow-up.

Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.

PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV). METHODS: This was a retrospective, multicenter observational case series. Fourteen genetically confirmed BVMD patients and 9 ARB patients who had been examined in 2 ophthalmological institutions in Japan were studied. The findings in a series of ophthalmic examinations including B-scan optical coherence tomography (OCT) and OCT angiography (OCTA) were reviewed. RESULTS: CNV was identified in 5 eyes (17.9%) of BVMD patients and in 2 eyes (11.1%) of ARB patients. Three of 5 eyes with BVMD were classified as being at the vitelliruptive stage and 2 eyes at the atrophic stage. The CNV in 2 BVMD eyes were diagnosed as exudative because of acute visual acuity reduction, retinal hemorrhage, and intraretinal fluid, while the CNV in 3 BVMD eyes and 2 ARB eyes were diagnosed as non-exudative. The visual acuity of the two eyes with exudative CNV did not improve despite anti-VEGF treatments. None of the eyes with non-exudative CNV had a reduction of their visual acuity for at least 4 years. All of the CNV were located within hyperreflective materials which were detected in 16 eyes (57.1%) of the BVMD eyes and in 7 eyes (38.9%) of the ARB eyes. CONCLUSIONS: CNV is a relatively common complication in BEST1-related retinopathy in Asian population as well. The prognosis of eyes with exudative CNV is not always good, and OCTA can detect CNV in eyes possessing hyperreflective materials.

Coronavirus Disease 2019-induced Acute Exudative Polymorphous Vitelliform Maculopathy.

Acute exudative polymorphous vitelliform maculopathy (AEPVM) is a rare entity characterized by acute multifocal macular detachment with polymorphous subretinal vitelliform deposits. The disease is a presumed retinal pigment epithelial dysfunction and is reported to occur with malignancies. We report a case of a 32-year-old otherwise healthy woman who presented with an acute bilateral visual disturbance a few days after testing positive for coronavirus disease 2019 (COVID-19). Her initial visual acuity was 6/6 in both eyes. Fundus examination revealed bilateral multifocal round yellowish subretinal deposits. Spectral-domain optical coherence tomography showed bilateral foveal serous retinal detachment with subretinal hyperreflective materials consistent with vitelliform deposits. Systemic workup to exclude malignancies and genetic diseases was unremarkable. The patient was observed without treatment, and the vitelliform materials gradually resolved over 18 months of follow-up. In our era of the global pandemic, AEPVM may be associated with COVID-19 infection.

Multimodal Imaging Characteristics of Quiescent Type 1 Neovascularization in Best Vitelliform Macular Dystrophy

This case report of a 38-year-old man with bilateral Best vitelliform macular dystrophy (BVMD) presents bilateral quiescent type 1 neovascularizations (NV) detected by optical coherence angiography (OCTA) and their multimodal imaging characteristics. It was emphasized that this kind of quiescent and asymptomatic NV may be present in nearly every stage of BVMD and it was concluded that OCTA is a noninvasive, easy, and rapid method that is superior to other imaging methods in detecting them.

Optical Coherence Tomography Angiography Quantitative Assessment of Macular Neovascularization in Best Vitelliform Macular Dystrophy.

Purpose: To describe quantitative characteristics of macular neovascularization (MNV) in vitelliform macular dystrophy (VMD) patients by means of optical coherence tomography angiography (OCTA). Methods: The study design was a prospective case series. All patients underwent complete ophthalmologic assessment, optical coherence tomography, and OCTA. The quantitative OCTA parameters examined included vessel tortuosity and vessel dispersion of the MNV. The primary outcome was OCTA characterization of MNV in VMD. Secondary outcomes included the evolution of MNV over the follow-up. Results: A total of 78 eyes were recruited for the study. MNV was identified in 50 eyes (64%) at baseline and in 51 eyes (65%) at the end of the follow-up (mean follow-up, 24.7 ± 9.7 months). MNV was detected in four out of the 30 eyes classified as stages 2 and 3 (13%), showing exudative manifestations and undergoing ranibizumab treatment, leading to clinical stabilization. OCTA detected MNV in 46 out of 48 eyes (96%) classified as stages 4 and 5, showing no evidence of exudative manifestation. All of the non-exudative MNVs were merely observed over the follow-up and received no treatment. At the end of the follow-up, 47 out of 48 eyes displayed MNV (98%). Non-exudative MNVs remained stable over the follow-up. Statistically significant differences were found when comparing vessel tortuosity and vessel dispersion in the two MNV subforms. Conclusions: VMD is characterized by two MNV subforms. Exudative MNV is rare and may develop in the early stages of the disease, in association with bleeding and fluid formation. Non-exudative MNV develops very commonly in the advanced stage of VMD, without any exudative manifestation.

Anti-VEGF and Retinal Dystrophies.

The therapeutic approach based on anti-vascular endothelial growth factor (anti-VEGF) molecules can be used to treat two important complications of retinal dystrophies: choroidal neovascularization and macular edema. The macular involvement in retinal dystrophies can lead to further visual deterioration in patients at a young age and already affected by functional limitations. The study reports the effect of anti-VEGF treatment in several subforms of retinal dystrophies, critically discussing advantages and limitations.

Recurrence of SRF Post Intravitreal Ranibizumab for Pediatric Choroidal Neovascularisation Secondary to Best Disease.

We present five cases of choroidal neovascularization secondary to pediatric Best disease which were treated with two different doses of intravitreal ranibizumab. Optical coherence tomography was used for monitoring of the cases. Three cases had subretinal fibrosis at presentation and two out of these 3 cases required repeat intravitreal ranibizumab at one year follow-up due to recurrence of subfoveal subretinal fluid.

MAINTENANCE OF GOOD VISUAL ACUITY IN BEST DISEASE ASSOCIATED WITH CHRONIC BILATERAL SEROUS MACULAR DETACHMENT.

PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable. Best-corrected visual acuity was 20/20 in her right eye and 20/25 in her left eye. The anterior segment examination was normal in both eyes. Funduscopic examination showed multifocal hyperautofluorescent vitelliform deposits with areas of subretinal fibrosis in both eyes. An electrooculogram showed Arden ratios of 1.32 in the right eye and 1.97 in the left eye. Ultra-widefield color and fundus autofluorescence imaging showed degenerative retinal changes in areas throughout the entire fundus in both eyes. Optical coherence tomography, including annual eye-tracked scans from 2005 to 2016, showed persistent bilateral serous macular detachments. Despite chronic foveal detachment, visual acuity was 20/25 in her right eye and 20/40 in her left eye, 24 years after initial presentation. Genetic testing showed a novel c.238T>A (p.Phe80Ile) missense mutation in the BEST1 gene. CONCLUSION: Some patients with Best disease associated with chronic serous macular detachment can maintain good visual acuity over an extended follow-up. To our knowledge, this is the first report of Best disease associated with this mutation in the BEST1 gene.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FOR THE DETECTION OF SECONDARY CHOROIDAL NEOVASCULARIZATION IN VITELLIFORM MACULAR DYSTROPHY.

PURPOSE: Optical coherence tomography angiography (OCTA) is used to assess vascular abnormality in advanced stage vitelliform macular dystrophy (VMD2). METHODS: Multimodal imaging including spectral domain (SD) OCT, autofluorescence (AF), fluorescein (FA) and indocyanine green angiography (ICGA) as well as optical coherence tomography angiography were performed. PATIENTS: Two eyes in one young patient with diagnosed vitelliform macular dystrophy were investigated for progressive visual dysfunction. RESULTS: Optical coherence tomography angiography identified neovascular formation within the outer retina and the choriocapillaris respectively while all other imaging methods were inconclusive. CONCLUSION: Optical coherence tomography angiography was superior to conventional angiography in the detection of choroidal neovascularization (CNV) in advanced retinal disorders like vitelliform macular dystrophy.

SEROUS MACULAR DETACHMENT IN BEST DISEASE: A Masquerade Syndrome.

PURPOSE: To describe the clinical and multimodal imaging findings of a series of cases of serous macular detachment (SMD) caused by Best disease (BD) masquerading as neovascular age-related macular degeneration or central serous chorioretinopathy that were inappropriately treated with intravitreal anti-vascular endothelial growth factor or laser therapy. This study will also present data to support age-related progressive choroidal thickening in BD patients, which may play a role in the development of SMD in this population. METHODS: Clinical examination and multimodal imaging findings, including color fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and optical coherence tomography-angiography, were reviewed and analyzed. Subfoveal choroidal thickness was also formally measured, and an age-related choroidal thickness analysis was performed and compared with a normal population. RESULTS: Twenty-six eyes of 13 patients (5 women) were included. Median age was 44 years. Nine patients presented with a history of SMD and subretinal fluid recalcitrant to various therapies, including intravitreal anti-vascular endothelial growth factor injections and photodynamic therapy. Best disease was subsequently diagnosed genetically in six patients and by detailed family history in seven. Mean logarithm of the minimum angle of resolution best-corrected visual acuity for all 26 eyes at last follow-up was +0.36 (Snellen equivalent of 20/46). Subfoveal choroidal thickness positively correlated with age for our cohort, increasing linearly at a rate of 25.6 µm per decade (R = 0.64; P < 0.001). Choroidal neovascularization was identified in four eyes on optical coherence tomography angiography, but these eyes did not respond to anti-vascular endothelial growth factor treatment. CONCLUSION: The diagnosis of BD should be considered in patients presenting with SMD and recalcitrant subretinal fluid masquerading as neovascular age-related macular degeneration or chronic central serous chorioretinopathy to avoid unnecessary treatment procedures. The positive correlation of subfoveal choroidal thickness with age in BD patients may be a factor in the pathogenesis and development of SMD in this population. Recognizing the multimodal imaging features of SMD associated with BD, described in detail in this study, will guide practitioners to the accurate diagnosis of BD and reduce the risk of unnecessary intraocular procedures with potential complications.

A Case of Best Disease Accompanied by Pachychoroid Neovasculopathy

The aim of this case presentation is to describe ocular findings of a 22-year-old patient with Best vitelliform macular dystrophy accompanied by pachychoroid neovasculopathy. Color fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA) images were reviewed. Funduscopic examination showed bilateral yellowish vitelliform-like submacular deposits. FAF revealed these deposits as hyperautofluorescent spots. OCT showed flat irregular pigment epithelial detachments corresponding to these submacular deposits. OCT showed choroidal thickening and dilatation of the large outer oval choroidal vessels. Fundus fluorescein angiography could not be performed because the patient was pregnant. En face OCTA images of the choriocapillaris illustrated the choroidal neovascular network. In this case report, we describe for the first time the coexistence of Best vitelliform macular dystrophy and pachychoroid neovasculopathy with OCTA images enabling visualization of the neovascular network in a patient with contraindication for fluorescein angiography.

SUCCESSFUL CLOSURE OF FULL-THICKNESS MACULAR HOLES SECONDARY TO MACULAR VITELLIFORM LESIONS.

PURPOSE: To describe the first reported cases of full-thickness macular holes secondary to vitelliform lesions that were successfully closed with vitrectomy surgery and gas tamponade. METHODS: Two female patients developed visual loss secondary to bilateral vitelliform lesions and associated full-thickness macular holes. The patients underwent 25-gauge pars plana vitrectomy, internal limiting membrane peeling, and 26% sulfur hexafluoride gas, followed by 3 days of face-down positioning. RESULTS: In both patients, the macular holes remain closed 3 and 25 months postoperatively. CONCLUSION: Vitrectomy surgery with gas tamponade may successfully close full-thickness macular holes secondary to macular vitelliform lesions.

OCTA Imaging of Choroidal Neovascularization Treated Using Photodynamic Therapy in a Young Patient With Best Macular Dystrophy.

This study reports the onset of a choroidal neovascularization (CNV) in a young patient affected with Best macular dystrophy (BMD) using optical coherence tomography angiography (OCTA) and describes its changes after photodynamic therapy (PDT). In the patient's right eye (OD), OCTA scans demonstrated a large, tangled, and well-demarcated vascular network at the outer retinal (OR) and choriocapillaris (CC) layers. Best-corrected visual acuity (BCVA) was 20/40 OD. Twenty days after PDT, BCVA OD improved (20/30), and the macular hemorrhage was significantly reduced. OCTA showed regression of the vascular network both in the OR and CC layers, with a significant reduction of the internal anastomosis and connection in absence of ischemic complication at the choriocapillaris. The authors concluded that OCTA is the best imaging technique for precise diagnosis and follow-up of the choroidal neovascularization in children affected with BMD. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:969-973.].

Retinopatía viteliforme asociada a carcinoma de mama / Vitelliform retinopathy associated with breast cancer

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