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Best’s disease is a relatively rare form of macular dystrophy, characterized by bilateral staged course. The cases of the choroidal neovascular membrane (XNM) formation in the course of the disease development are described, however the true frequency of this complication and the management of such patients are not determined. In recent years, a new promising method of examination — OCT — angiography (OCTA) — has been actively introduced into clinical practice. Non-invasive character and contactlessness of OKTA open wide possibilities of its application in various pathologies, in particular, in pediatric ophthalmology. The purpose of this work was to assess the prospects for using OCTA in the diagnosis and monitoring of Best’s disease. Patients and methods. The data of the standard complex ophthalmological examination and OCTA of the posterior pole of the eye were analyzed in 5 patients with Best’s disease — 4 children aged 5 to 12 years and the 25-year-old woman observed for this disease from childhood. Results. In all patients, the disease was bilateral. In 1 of 9 eyes (1 out of 10 eyes was excluded from the analysis due to the presence of retinal detachment at the time of examination) the disease was at the vitelliform stage, in 2 — at the pseudohypopyon, in 5 — at the vitelliruptive stage, in 1 — at the atrophic stage. Visual acuity at the time of the examination was from 0.02 to 1.0. Clinically, the presence of CNM could be assumed in 4 eyes. According to OCTA CNM was detected in 7 cases, in 3 of them signs of membrane activity were noted. Сonclusion. OCTA provide detection that the formation of СNM in the Best’s disease occured already at the pseudohypopyon stage and in half of cases was not accompanied by the development of clinical symptoms. The study allows to assess the localization, size and activity of the membrane, which is necessary for monitoring and determining the tactics of treatment of this complication. Carrying out further research will determine the true frequency, risk factors for development and features of CNM in Best’s disease, which will allow developing optimal tactics for conducting such patients.

Purpose: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the BEST1 gene. We report a family with variable expressivity and incomplete penetrance in its members. Materials and Methods: A Mexican family was studied. It was comprised of six individuals (father, mother, and four children). A clinical history was taken, and a complete ophthalmological examination (distance best-corrected visual acuity, slit-lamp biomicroscopy, optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and electrophysiological studies) was performed in each individual. Results: Two members presented low visual acuity and vitelliform lesions in different stages in the ocular fundus. The assessment suggested a diagnosis of Vitelliform Macular Dystrophy. Genetic analysis was performed by sequencing of exons 2, 4, 5, 7, 8, and 9 of the BEST1 gene. All patients were carriers of the A variant allele of SNP rs1109748 located in exon 2 (c.219 C > A; p.Ile73=). Also, a missense mutation was identified in exon 7 in the mother and two children (c.851A>G; p.Tyr284Cys). The mother has a normal visual acuity, no abnormal findings in the ophthalmological examination and an abnormal electrooculogram, exhibiting incomplete penetrance. Conclusion: This represents one of the few cases of Vitelliform Macular Dystrophy with incomplete penetrance, being the first in our country and Latin America, and with our reported mutation with this characteristic. [ABSTRACT FROM AUTHOR]

Keywords: Autosomal recessive inheritance; best's disease; macular hole EN Autosomal recessive inheritance best's disease macular hole 1173 1175 3 06/02/20 20200601 NES 200601 A 22-year-old male was evaluated for both eye poor vision. Fundus examination of both eyes showed bilateral subretinal yellow deposits extending up to arcades [Figure 1]a and [Figure 1]b with macular hole in right eye and subretinal fibrosis in left eye [Figure 1]c and [Figure 1]d. Electroretinogram (ERG) was near normal in both eyes [Figure 2] and electrooculogram (EOG) showed light-peak absence [Figure 3]. [Extracted from the article]

Best’s Disease is a macular dystrophy characterized by a lipofuscin accumulation on the retinal pigment epithelium. Five stages have been described based on fundus examination, including choroidal neovascularization. We report a case of a 59-years-old male, presented to the ophthalmologic department with visual loss in both eyes. Fundus examination revealed vitelliform lesions in both maculas. Fluorescein angiography showed a choroidal neovascularization in the left eye. The electrooculogram confirmed the diagnosis of Best's disease. Choroidal neovascularization is a rare complication of Best’s Disease in late stages. The most effective therapeutic options are photodynamic therapy with veteporfirin and antiangiogenic therapy.

A 40-year-old woman presented with vitellieruptive stage of Best's vitelliform macular dystrophy (BVMD) in the right eye and pseudohypopyon stage in the left eye. She underwent comprehensive ophthalmic examination and fundus imaging using multicolor (MC) imaging technology of Spectralis (Heidelberg Engineering, Heidelberg, Germany) spectral-domain-optical coherence tomography system. Composite MC imaging revealed larger area of retinal pigment epithelium atrophy in vitellierruptive stage of the disease in the right eye compared to color fundus photograph. Retinal elevation in the pseudohypopyon stage was better delineated on composite MC and blue reflectance images in the left eye. Subretinal lipofuscin was best seen in green reflectance and short-wave autofluorescence images. The present case reports the MC imaging features of BVMD. [ABSTRACT FROM AUTHOR]

Objective: To describe a case of adult-onset foveomacular vitelliform dystrophy (AOFVD). Method: This is a case report. Results: A 22-year-old female presented with painless blurring of vision and metamorphopsia 3 days prior to consultation. There were 2 similar episodes in the past that spontaneously resolved after 2 to 4 weeks. Visual acuity (VA) was 20/50 in the right eye (OD) and 20/40 in the left (OS), both best corrected to 20/25. Dilated-fundus examination revealed a discrete area of mixed hypoand hyperpigmentation 1 disc diameter over the fovea in OD and a solitary round hypopigmented lesion with a hyperpigmented border 3 to 4 disc diameters on the fovea in OS. Fluorescein angiography (FA) revealed an area of hyperfluorescence surrounded by a rim of hypoflourescence in OD and an area of blocked fluorescence with subtle hyperfluorescence superior to the lesion in OS, both of which did not increase in size and intensity toward the late phases. Optical coherence tomography (OCT) revealed neurosensory detachment in both eyes. Electrooculogram (EOG) was normal with Arden ratio of 0.91. VA returned to 20/25 in both eyes, and repeat fundus photography showed no change in the characteristics of the lesions. Conclusion: Differential diagnosis of a hypopigmented macular lesion in the young with self-limited blurring of vision should include AOFVD. FA, OCT, and EOG can help distinguish AOFVD from Best’s disease or other similar macular conditions.

Best′s vitelliform macular dystrophy is a hereditary form of progressive macular dystrophy that can be complicated by choroidal neovascularization. Authors report successful treatment of choroidal neovascularization with intravitreal bevacizumab in one such eye in an ′adult′ Indian male with visual improvement. A 23-year-old male presented with diminution of vision in the right eye for the past sixteen months. Visual acuity was 20/400 in the that eye. After three consecutive intravitreal injections of bevacizumab (1.25 mg/0.05 ml), vision improved to 20/120. Seven months following the last injection of bevacizumab, fundus appeared stable and visual acuity was maintained. No drug-related ocular or systemic side effects were encountered. To the best of our knowledge (PubMed search), this is the first report of its kind in an adult Indian patient. Intravitreal bevacizumab appears to be a promising and cost-effective modality of treatment in such eyes with potential for improvement in vision. However, a long-term follow-up is warranted.

Background: Best's disease is a hereditary form of macular dystrophy that starts in childhood and progresses until visual symptoms occur. In evolution it can be complicated with choroidal neovascularization, condition very rare in children. We report an important visual improvement in a 8-year-old caucasian girl after successful treatment with one intravitreal bevacizumab injection. There are few cases reported in literature (1-7), and the patient presented here have important particularities: one of the youngest children ever-mentioned with this complication, the third-member of her family with this disease and the first patient who didn't receive a second intravitreal bevacizumab at six weeks after first treatment, even though BCVA was lower than expected. The girl accused decrease of vision in the RE for the past 3-4 months. BCVA at presentation was 1/10. After 6 weeks from the intravitreal treatment, BCVA improved, but not very satisfactory (5/10). Because fundus and OCT aspects were encouraging, we waited another 4 weeks before the second injection. BCVA doubled in this period (8/10). Visual acuity, fundus and OCT aspects stabilized for 18 months of follow-up. Conclusion: We note that choroidal neovascular membrane associated with Best's disease can appear at such young children, this fact being very important in the phase of diagnosis, when the clinician should also take in consideration this possibility. Another important idea underlined here is the long-term efficacy of a single intravitreal anti-VEGF injection and also the no-need for imminent, fast re-treatment when the fundus and OCT aspects are encouraging through the follow-up. [ABSTRACT FROM AUTHOR]

Best's Disease is a macular dystrophy characterized by a lipofuscin accumulation on the retinal pigment epithelium. Five stages have been described based on fundus examination, including choroidal neovascularization. We report a case of a 59-years-old male, presented to the Department of Opthalmology with visual loss in both eyes. Fundus examination revealed vitelliform lesions in both maculas. Fluorescein angiography showed a choroidal neovascularization in the left eye. The electrooculogram confirmed the diagnosis of Best's disease. Choroidal neovascularization is a rare complication of Best's Disease in late stages. The most effective therapeutic options are photodynamic therapy with veteporfirin and antiangiogenic therapy. [ABSTRACT FROM AUTHOR]

Abstract: Background: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a condition that presents classically as bilateral, symmetrical, grayish-yellow, round or oval-shaped lesions within the macular area. These lesions are mildly elevated and are typically one third to one half disc diameter in size. The onset of the disease is usually between 30 and 50 years of age with variable genetic inheritance, although some have suggested an autosomal dominance inheritance pattern. Patients with AOFVD typically present with symptoms of blurred vision or mild metamorphopsia. Results of diagnostic testing show a normal or mildly subnormal electro-oculogram (EOG). Fluorescein angiography results (FA) typically show hypofluorescence in the area corresponding to the vitelliform lesion and a surrounding ring of hyperfluorescence. Results of optical coherence tomography (OCT) show the vitelliform lesion as being located in the retinal pigment epithelium (RPE) layer or between the RPE and photoreceptor layer. Case Reports: Two cases of AOFVD are presented with each patient having different macular appearances owing to the different stage of the disease process. In case 1, a 76-year-old white man presented with stage II AOFVD characterized by typical vitelliform lesions. His best-corrected acuities were 20/70+ in the right eye (O.D.) and 20/80- in the left eye (O.S.). In case 2, a 54-year-old white man presented with stage V AOFVD with bilateral atrophic maculae with best-corrected acuities of 10/60- O.D. and 10/160- O.S. Conclusion: Patients with adult-onset foveomacular vitelliform dystrophy typically have slow progressive vision loss. However, patients can develop dramatically decreased vision owing to subfoveal choroidal neovascularization (CNV). Thus, it is important to establish the correct diagnosis and monitor this condition. Furthermore, because there are reports of AOFVD having an autosomal dominance inheritance pattern with variable penetrance, it is recommended that the patient’s family members have a comprehensive eye examination to rule out any early signs of this rare eye condition. [Copyright &y& Elsevier]

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Adult-onset foveomacular vitelliform dystrophy is characterized by a focal, round or oval shaped, subretinal foveal yellow lesion that presents bilaterally and usually symmetrically in the fourth or fifth decade of life. In addition to clinical observation, diagnosis of the disease process has until now been assisted by electrophysiological and fundus fluorescein studies. Two cases are presented that correlate the clinical fundus appearance with optical coherence tomography findings and describe the location of the yellow vitelliform material. [ABSTRACT FROM AUTHOR]

The aim of the study was to asses the neurosensory retinal function in 12 patients (24 eyes) with different stages of Best's disease, by determining how pattern and full field flash ERG responses were related to visual acuity, stage of disease and extent of visual field loss. All patients had typically abnormal EOG responses and normal full field-flash ERG responses. Patients were stratified in two groups according to visual acuity. In the first group 12 eyes with visual acuity better than 0.5, all amplitudes and latencies of PERG P50 and N95 responses were in the normal range. Small central scotoma was detected by static perimetry in four of these eyes. In the second group of 12 eyes with visual acuity 0.5 or less, PERG showed reduced both P50 and N95 amplitudes in five eyes, and N95 solely, in two eyes. All patients had central scotomas detected by static perimetry. Progression of the disease, seen in deterioration of visual acuity and progression of central visual field defects, corresponded well with reduction of both PERG P50 and N95 amplitudes. There was no correlation found between visual acuity and EOG responses. Our results show that in Best's distrophy, pattern ERG is getting abnormal with progression of the disease, indicating relative preservation of neurosensory retina in initial stages of the disease. In contrast to EOG - being abnormal in all the patients regardless of the stage of disease - and full field-flash ERG - being normal in most of the patients - PERG gives opportunity for electrophysiological determination of the progression of the disease. [ABSTRACT FROM AUTHOR]

Long-term observations on 29 patients from four pedigrees with vitelliform dystrophy (Best's disease) are described. The majority of patients were examined at yearly intervals and had a mean follow-up of 7.4 years. For analysis, eyes were staged according to Mohler and Fine's classification. Although vitelliform dystrophy exhibited considerable polymorphism in the study group 'recognisable stages', such as egg-yolk cysts, scrambled cysts or pseudohypopyon, were present in 48% of eyes at the initial examination. Egg-yolk cysts and pseudohypopyons were found to be the most evanescent of stages lasting on average 2.0 and 2.4 years respectively. Evolution of lesions did not necessarily follow a regular progression through the later stages of the vitelliform classification. Several unusual features such as recurrent pseudohypopyon, apparent regeneration of retinal pigment epithelium, exudative retinal detachments and development of stellate pigment figures were observed during the study. The majority of patients retained 6/12 or better visual acuity until the fourth decade when vision deteriorated. Correlations between changes in visual acuity and staging of the fundal lesions were made. Similarities between the group of patients reported, and a comparative group from overseas1 have been discussed. [ABSTRACT FROM AUTHOR]

Copyright of Der Ophthalmologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Best's disease is an inherited macular dystrophy with autosomal dominant inheritance pattern, characterized by the presence of autofluorescent vitelliform deposition whose development is stereotyped from its manifestation to the fragmentation of the material and then to its resorption. Age at onset is between 7 and 12 years. Except in the presence of complications, patients are more often asymptomatic and the disease is discovered fortuitously. We report the case of 8 year-old only daughter with no particular past medical history. Ophthalmologic examination showed corrected visual acuity 7/10 in the left and right eyes, the examination of the anterior segment was normal, fundus examination showed macular yellowishwhite stain (A, B). On fluorescein angiography, hyperfluorescence occurred early followed by a hypofluorescence. Macular imaging by optical coherence tomography (OCT) showed the presence of an empty optical space between the neuroretina and the pigment epithelium (C, D). Assessment was performed: electrooculogram was perturbed using Arden ratio of 146% in the right eye and 179% in the left eye. Electroretinogram, visual fields and color vision test were normal. Fundus examination of parents was normal. The diagnosis of previtelliform BEST's disease was made based on early hypofluorescence, OCT appearance and alteration of the electroretinogram. Differential diagnoses included: stargardt's disease, progressive dystrophy of the cones and X-linked retinoschisis. No treatment was proposed, only simple monitoring. [ABSTRACT FROM AUTHOR]

An eight-year-old boy presented with decreased near and distance vision in both eyes. The right ocular fundus showed a giant macular hole surrounded by a vitelliform ring. Spectral domain optical coherence tomography (SD-OCT) revealed a full-thickness macular hole with cystic spaces at the edges. The left fundus had an egg-yolk like appearance of 1.5-disc diameter at the macular region. SD-OCT showed an optically empty space between retinal pigment epithelium and the neurosensory retina. Fundus autofluorescence confirmed the presence of lipofuscin in both eyes. The Arden ratio was 1.38 for the right eye and 1.61 for the left. There was no surgical intervention because of the poor prognosis due to large size of the hole. Environmental modification and contrast-enhancing measures were explained to the patient and his parents. [ABSTRACT FROM AUTHOR]

Objectives and Methods: Our objective is to describe a multifocal vitelliform presentation of Best's disease. The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour. The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision. His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery. Due to the suspicion of Best's multifocal disease, genetic tests were performed. Multifocal vitelliform disease with the same features as those in Best's disease occurs most frequently in patients with a normal electro-oculogram (EOG), and a normal family history., Conclusion: Best's multifocal disease must be suspected in case of multiple vitelliruptive lesions close to the posterior pole. Genetic testing is essential for its diagnosis., (Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Case Report: A 27-year old woman presented with loss of vision in the right eye (20/200). Ophthalmoscopic examination showed intrarretinal hemorrhage in the macular region with neurosensory detachment in the right eye, and viteliform deposit on the left eye. Fluorescein angiography and the electrooculogram confirmed the diagnosis of choroidal neovascularization associated with Best's disease. Four weeks after a single bevacizumab intravitreal injection, visual acuity was restored (20/25) and remained stable after a 12 month follow-up., Discussion: Intravitreal bevacizumab appears to be an effective treatment for choroidal neovascularization associated to Best's disease., (Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)