Peripheral vitelliform lesions in vitelliform macular dystrophy

We report an unusual case of vitelliform macular dystrophy due to the presence of bilateral peripheral vitelliform lesions. Multiple forms involving posterior pole only and peripheral non specific lesions have already been described but this is the first case published, to our knowledge, showing typical vitelliform lesions in the periphery. These lesions developed in the same way as macular lesions, but they were complicated by a schisis in the left eye. In addition to other electrical and histopathological evidence, this case provides clinical evidence of the diffuse involvement of the retinal pigment epithelium in this disease. This involvement is linked to the accumulation of lipofuscin and granular substance, produced by photoreceptors. The macular predominance of vitelliform lesions can be partly explained by the metabolic and vascular particularities of the macula, but a genetic factor may be involved in the topographic determination of lesions. The development of a schisis on the edge of one of the described lesions encourages systematic search of peripheral lesions in cases of vitelliform macular dystrophy.     

Adult-onset foveomacular vitelliform dystrophy.

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.     

Best's macular dystrophy with a macular hole

The occurrence of a macular hole with Best's dystrophy is an extremely rare finding with only one reported case in the literature. We wish to report two cases with typical Best's dystrophy in one eye and a macular hole in the contralateral eye. In one case the Pattern Reversal VER (PVER) was also recorded and graphed as an amplitude-check size function curve. The PVER changes in this case were grossly subnormal in both the eyes, suggesting a significant degree of bilateral macular impairment. This implies that a significant amount of functional impairment occurs at the vitelliform stage itself, though how this stage progresses to a macular hole is unclear.     

Unusual associations of pattern dystrophies

Pattern dystrophies are a group of inherited abnormalities of the macular pigment epithelium. They include reticular, macroreticular and butterfly-wing dystrophies. Several cases of pattern dystrophies associated with other diseases are reported. In one patient with reticular dystrophy of the retinal pigment epithelium this was combined with congenital hereditary deafness. Both affections were probably transmitted by a single pleiotropic gene. Apart from the typical reticular pattern in the macula there were atrophic areas that could have resulted from progression of the dystrophy. The two other cases were from the same family, one member showing macroreticular dystrophy associated with vitelliform macular dystrophy, and another a butterfly-wing dystrophy. These findings confirm the observation that different pattern dystrophies can occur in the same family and prove that such lesions can be associated with vitelliform dystrophy. The hypothesis is raised that pattern dystrophies and vitelliform dystrophy, although presently described as different clinical entities, are a single disease expressed in various manners.     

Morphological and functional analyses of adult onset vitelliform macular dystrophy

AIM: To evaluate the morphology and visual function of the macula in eyes with adult onset vitelliform macular dystrophy (AVMD). METHODS: 12 eyes of six patients with AVMD were examined by ophthalmoscopy, scanning laser ophthalmoscopy (SLO), optical coherence tomography (OCT), and multifocal electroretinography (mfERGs). The macular lesions were bilateral in all patients and varied from the typical vitelliform (five eyes), faded vitelliform changes with retinal pigment epithelium (RPE) atrophy (five eyes), and a normal fovea associated with small flecks around the macula (two eyes). RESULTS: SLO demonstrated small abnormal bright spots in the deep retina throughout the posterior retina in all cases. OCT showed a highly reflective fusiform thickened layer at the level of the RPE and choriocapillaris in patients with a submacular yellow vitelliform lesion. A well circumscribed, optically clear space was observed beneath the retinal layer in the macular lesions with RPE atrophy. The mfERGs were significantly reduced not only in the macular area but also in the outermost ring (20-30 degrees ) of the mfERGs. CONCLUSIONS: The submacular materials that accumulate within the RPE or subepithelial layers reported in previous histopathological studies of vitelliform lesions can be detected by OCT. In the macular lesions with RPE atrophy, the material may have disappeared leaving a subretinal or subepithelial optical clear space. These SLO and mfERG observations suggest that the morphological and functional abnormalities may not be localised just in the macular area but may be present throughout the posterior pole in eyes with AVMD.     

Presumed vitelliform dystrophy with perimacular flecks and retinal detachment

Seven of eight siblings of asymptomatic non-consanguineous parents were investigated. Two of them had atrophic cystoid macular degeneration and flat or subnormal electro-oculograms suggesting the diagnosis of vitelliform dystrophy. In one eye the central cystoid lesion was surrounded by atypical small whitish hyperfluorescent flecks resembling fundus flavimaculatus. In the other eye of this patient cystoid macular degeneration progressed to shallow non-rhegmatogenous detachment of the retina. One of the asymptomatic siblings had a mild colour vision defect of tritan-type and some fleckish hyperfluorescence around the macula and another sister showed abnormal EOG responses. These patients are probably carriers of the pathological gene responsible for the disease.     

卵黄样黄斑营养不良的光学相干断层扫描影像学特征

目的探讨卵黄样黄斑营养不良各病变阶段光学相干断层扫描(optical coherence tomography,OCT)的影像学特征。方法回顾性分析6例(8眼)卵黄样黄斑营养不良患者的OCT图像特征,并与眼底特征、眼底荧光血管造影进行对照分析。结果卵黄样病变期患者眼底检查可见黄斑区卵圆形隆起病灶,OCT可见视网膜色素上皮层和光感受器层之间有一中等密度反射区域,随病变进展,沉积物厚度增高。萎缩期患者黄斑区见萎缩灶,OCT表现为视网膜色素上皮层脉络膜复合体弥漫性增厚,神经感觉层变薄,合并脉络膜新生血管形成时可见高反射的新生血管膜。结论详细的病史资料、眼底检查、眼底荧光血管造影以及OCT的联合应用,有助于更科学的分析卵黄样黄斑营养不良的临床特征和病理改变。     

成年人型卵黄样黄斑营养不良的临床特征

目的研究成年人型卵黄样黄斑营养不良的临床和影像学特征。设计回顾性病例系列。研究对象北京同仁医院9例（13眼）成年人型卵黄样黄斑营养不良患者。方法分析患者的眼底表现、荧光素眼底血管造影（FFA）、相干光断层扫描（OCT）和自体荧光检查结果。主要指标FFA及OCT特征。结果所有患者均无家族史。视力在0．3及以上者8／13眼（61．5％）。所有患者均表现为黄斑区圆形卵黄样微隆起、边界清楚的、不超过1PD的视网膜下病变。FFA显示病变处呈遮蔽荧光,其旁无或显现荧光,在吸收过程中,荧光相应增加。OCT显示在视网膜色素上皮（RPE）光带前见一梭形均匀的高反射区,在吸收过程中,高反射区出现不均匀,或有小的无光反射暗区。结论黄斑区圆形卵黄样不超过1PD的视网膜下病变,无明显视网膜脱离及无病变破裂分层是本病的特点。FFA和OCT检查相结合有助于成年人型卵黄样黄斑营养不良的诊断。     

Pattern dystrophy of the retinal pigment epithelium with vitelliform macular lesion: evolution in ten years

Summary We report an unusual case of primary dystrophy of the retinal pigment epithelium (RPE) in which a vitelliform macular appearance was associated with reticular hyperpigmentation resembling the pattern dystrophies of the RPE. The entire evolution of the disease was observed and documented step-by-step during a 10-year follow-up. During the progressive change of the lesions morphologic characteristics of butterfly, reticular and macroreticular dystrophy as well as Best's macular dystrophy could be seen. Pathogenetic relationships between all of these dystrophies of the RPE can be supposed.     

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

Purpose

To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children.

Design

Clinical and family-based genetic study.

Methods

Seven subjects making up a family with three children affected by Best vitelliform macular dystrophy were studied. Standard ophthalmic exam with dilated ophthalmoscopy and imaging were performed in each individual. The eleven exons of BEST1were directly sequenced.

Results

All three affected children have the clinical characteristic features of Best vitelliform macular dystrophy: large macular vitelliform lesions, scattered vitelliform lesions along the arcades and in the peripheral retina, and an accumulation of serous retinal fluid. A novel compound heterozygous mutation in the BEST1gene was found in the three affected individuals (L41P and I201T). The unaffected parents and children only harbor one heterozygous mutation.

Conclusion

arBVMD can be caused by the compound heterozygous mutation L41P and I201T in the BEST1gene.     

Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports

ABSTRACT: BACKGROUND: To report two cases of atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy. CASE PRESENTATION: Two patients with incidentally discovered abnormalities of the retina without specific symptoms were referred to our hospital for consultation. Bilateral macula atrophic lesions were observed and optical coherence tomography revealed serous retinal detachment in the macula. Fluorescein angiography showed multiple leakages around the central hypofluorescent area and indocyanine green angiography showed partially dilated choroidal vessels. Fundus autofluorescence (FAF) showed a decreasing pattern of autofluorescence in the subretinal fluid area, and increasing autofluorescence at the border of the serous retinal detachment. Both patients were diagnosed with chronic central serous chorioretinopathy. Photodynamic therapy and intravitreal bevacizumab injection were administered for engorged choroidal vessels during follow-up, but neither patient showed improvement in symptoms or ophthalmologic findings. Based on re-evaluation by fundus photography, optical coherence tomography, fluorescein angiography, and comparison of the results of FAF with the first visit, vitelliform macular dystrophy was suspected and a definite diagnosis was made by electrooculography and genetic testing. CONCLUSION: In patients with continuous serous retinal detachment without response to photodynamic therapy or intravitreal bevacizumab injection, careful fundus exam and FAF can be used to diagnose atypical vitelliform macular dystrophy.     

Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy.

Two dominantly inherited macular dystrophies demonstrate the difficulty in establishing a diagnosis based on the fundus appearance. In 1 family the propositus presented with unilateral retinal haemorrhage associated with subretinal choroidal neovascularisation which remained unilateral over an 8-year period. In the other family the propositus presented with bilateral central choroidal atrophy. All affected family members had an abnormal electro-oculogram and a normal electroretinogram, suggesting the diagnosis of vitelliform macular dystrophy. Since vitelliform macular dystrophy has a wide range of expressivity, with polymorphous appearances of the fundus, the diagnosis is best made by the presence of a dominant mode of inheritance and an abnormal electro-oculogram.     

Vitelliform macular dystrophy of late onset.

A family with vitelliform macular dystrophy is presented in which the proband became symptomatic at age 51 rather than during the more typical first or second decade. Elderly patients with vitelliform macular dystrophy may have clinical findings resembling age-related degenerative choroidopathy of the macula.     

Adult vitelliform macular degeneration: diagnosis and natural history.

True vitelliform dystrophy rarely appears in the adult population. We describe 10 cases in adults of bilateral vitelliform lesions clinically mistaken for Best's disease. Fluorescein angiography is a useful tool in distinguishing this dystrophy from Best's disease or other diseases. The angiographic findings suggest pigment epithelial disease. Adult vitelliform degeneration may lead to dry atrophic macular degeneration in a similar fashion as macular drusen. Symptoms and visual findings in these patients are fairly stable, and may be only slowly progressive in spite of ophthalmoscopic and fluorescein angiographic changes over a period of years. The electro-oculogram is useful in separating adult vitelliform macular degeneration from true vitelliform dystrophy.     

Distrofia macular viteliforme de Best asociada a neovascularización coroidea

Case reportWe report the case of a child with a sudden loss of vision of the left eye. Ophthalmoscopic examination revealed vitelliform lesions in both foveal centers, as well as an adjacent hemorrhage in his left eye. Fluorescein angiography confirmed the presence of a neovascular membrane in his left eye. The electrooculogram showed disease. According to complementary studies the patient was diagnosed with Best's disease associated with choroidal neovascularization.DiscussionThe diagnosis of Best's vitelliform macular dystrophy is often a casual finding as visual acuity tends to remain stable for long periods of time. A sudden deterioration in vision may suggest complications, such as choroidal neovascularization.     

Adult onset foveomacular vitelliform dystrophy

We present the case report of a 43 years old patient with adult-onset foveomacular vitelliform dystrophy, a rare disease described for the first time by Gass in 1974. The differential diagnosis was made particularly with Best disease, based on the aspect, the progression of the macular lesions, and the EOG.     

Adult-onset foveomacular vitelliform dystrophy

CLINIC CASES: Four cases of adult-onset foveomacular vitelliform dystrophy are shown. In two cases we were able to complete the exploration under optical coherence tomography. One of the patients developed spontaneous disappearance of the subfoveal deposit in her right eye along with an important decrease in her visual acuity. DISCUSSION: Adult-onset foveomacular vitelliform dystrophy is characterized by yellowish round-shaped bilateral, lesions in the subfoveal area. Optical coherence tomography reveal the presence of a slightly elevated lesion wich affects the retinal pigment epithelium and the external layers of neurosensory retina.     

Vascularized pigment epithelial detachment in adult-onset foveomacular vitelliform dystrophy

PURPOSE: To report a case showing adult-onset foveomacular vitelliform dystrophy (AOFVD), associated with vascularized pigment epithelial detachment. CASE REPORT: A 72-year-old female affected by AOFVD complained with blurred vision and metamorphopsia in her right eye, seven months after a routinary clinical examination. Visual acuity in right eye dropped from 0.6 to 0.3, and biomicroscopic fundus examination revealed a serous pigment epithelial detachment arising from the temporal margin of the pseudovitelliform lesion. Fluorescein angiography showed an uneven filling of the pigment epithelial detachment, suggesting the presence of a subfoveal choroidal neovascularisation, which was confirmed by indocyanine green angiography. DISCUSSION: The association between AOFVD and vascularized pigment epithelial detachment, supports the hypothesis that AOFVD may be a different subgroup of age-related macular degeneration with specific genetic predisposition.     

Pseudovitelliform macular degeneration

Forty-two patients with pseudovitelliform macular degeneration (VMD) were studied. The macular lesions were yellow in color, appeared as a slight elevation at the level of the retinal pigment epithelium (RPE), were usually 1/4 to 1/2 disc diameter in size and often showed a round or oval shape. Progression occurred over many years, resulting in a circumscribed atrophic area in the RPE. The lesions in VMD were morphologically similar to those seen in Best's vitelliform dystrophy, but the electrooculogram was normal or slightly subnormal in all cases. The average Lp/Dt ratio in 71 eyes tested was 2.16. There were 31 women and 11 men with a median age of 51 years at initial presentation. Family studies did not reveal other affected members. Long-term follow-up (five years or longer) in ten cases showed that useful vision is retained in at least one eye.     

Atypical vitelliform macular dystrophy in a 5-generation family.

Five generations of a family with autosomal dominant atypical vitelliform macular dystrophy (A-VMD) were studied. This dystrophy is similar to autosomal dominant Best's vitelliform dystrophy (B-VMD) but clinically more closely resembles sporadic pseudovitelliform macular degeneration (P-VMD). Of the family members who were 14 years or older 43 (24 females and 19 males) of the 101 at risk (43%) were affected. Vision varied from 20/20 to 20/200. Field defects and tritan colour defects were invariably present only when vision was less than or equal to 20/200, but these defects were sometimes present when vision was good. The electrooculographic studies (LP/DT ratios) in this family were found to be normal or reduced and did not correlate with visual acuity. Minimal retinal findings consisted of macular or extramacular punctate yellow lesions or both in the retinal pigment epithelium, which were hypofluorescent by angiography, and retinal pigment epithelial defects in the temporal nerve fibre bundle, which were hyperfluorescent by angiography. Fluorescein angiographic changes were invariably present when retinal lesions were noted, and this was the most reliable test in identifying genotypically affected family members with minimal phenotypic expression.