Morphology and functional characteristics in adult vitelliform macular dystrophy

PURPOSE: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). METHODS: The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) were evaluated retrospectively regarding visual acuity, color vision, perimetry, retinal pigment epithelium (RPE) autofluorescence, fluorescein angiography, electro-oculography, full-field and multifocal electroretinography, and molecular genetic evaluation of the VMD2 and RDS/peripherin genes. RESULTS: The mean age of subjects was 54.6 years. Visual loss was variable (median, 0.6; range, 1.25-0.05). Color vision and visual field were normal in about half of the patients but presented defects with high variability in the remaining patients. Autofluorescence findings showed increased fluorescence within the foveal yellow lesion in 76%. In the majority of eyes, the amplitude of the 30 Hz flicker response of the full-field electroretinogram (72%) and the central P1 amplitude of the multifocal electroretinogram (63%) were reduced. Mutational analyses revealed a potentially disease-associated mutation in the RDS/peripherin gene in one patient. CONCLUSION: AVMD is characterized by late onset, slow progression, good prognosis, and high variability of morphologic and functional abnormalities resulting frequently in misdiagnosis. Autofluorescence findings indicate lipofuscin accumulation in the yellow lesion. Electroretinography revealed a generalized cone system dysfunction with increasing severity toward the fovea.     

Hereditary vitelliform macular dystrophy

Two families with vitelliform macular dystrophy were investigated ophthalmologically and genetically. The pedigree examination verified the usual expressivity. Macular pigmentary abnormalities or extramacular vitellin deposits were disclosed in some asymptomatic patients.     

卵黄状黄斑营养不良

卵黄状黄斑营养不良是常染色体显性遗传病,光学相干断层扫描等检查方法在本病的应用,为研究其发病机制、发展过程提供了新的依据;其相关基因的研究则有助于对年龄相关性黄斑变性的分子机制及其基因干预等进一步认识。本文对其流行病学,临床表现,光学相干断层扫描、荧光素眼底血管造影表现,诊断及鉴别诊断,基因研究进展等方面进行综述。     

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.     

Central serous corioretinopathy in adult onset foveomacular vitelliform dystrophy

CASE REPORT: The clinical case of a 30 year-old male patient with a bilateral and symmetric adult-onset foveomacular vitelliform dystrophy is presented. The simultaneous onset of a central serous chorioretinopathy (CSCR) with multiple white dots in the proximity of the temporal vascular arcades is documented. Fluorescein angiography showed a combined alteration of both types of photoreceptors, and the acute lesion of the CSCR at the posterior pole of the eye. DISCUSSION: Adult-Onset Foveomacular Vitelliform Dystrophy is a hereditary condition which results in an alteration of the posterior pole of the eye, but is not usually associated with any acute complications. The onset of a CSCR, as seen in this case, is unusual 2008; 83: 505-508).     

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.     

Best卵黄样黄斑营养不良的临床特点分析

目的探讨Best卵黄样黄斑营养不良（BVMD）患者的临床特征。方法回顾性分析2006年1月至12月共10例（20只眼）BVMD患者的临床资料,包括眼底检查、荧光素眼底血管造影（FFA）及相干光断层扫描（OCT）图像等资料。结果10例（20只眼）中,3例（3只眼）病变为Ⅱ期,发病年龄9—18岁,最佳矫正视力（BCVA）为0．5～0．8;FFA检测可见病灶区荧光遮蔽;OCT检测显示视网膜色素上皮（RPE）-脉络膜毛细血管复合体增厚、隆起、信号增强。2例（2只眼）为Ⅱa期,发病年龄9—18岁,BCVA为0．5～0．6;FFA检测可见不规则强和弱荧光病灶;OCT检测显示RPE-脉络膜毛细血管复合体增厚、隆起、信号增强,堆成圆锥状,其下物质蓄积伴浆液性视网膜脱离（RD）,神经感觉层被抬起。2例（4只眼）为Ⅲ期,发病年龄11-29岁,BCVA为0．4～1．0;FFA检测显示液平面下方荧光遮蔽,上方因RPE萎缩可见窗样缺损;OCT检测显示为上方RPE正常而伴浆液性RD,下方RPE-脉络膜毛细血管复合体增宽、信号增强,神经感觉层被抬起。6例（11只眼）为Ⅳ期,发病年龄9—44岁,BCVA为0．05～0．7;FFA检测可见典型的荧光渗漏（Ⅳc期）或透见荧光（Ⅳa期）或纤维团块荧光点染（Ⅳb期）;OCT检测显示RPE连续性中断,可伴黄斑水肿（Ⅳc期）,RPE-脉络膜毛细血管复合体萎缩变薄（Ⅳa期）或增宽,信号增强（Ⅳb期）。结论BVMD的FFA和OCT检测结果支持卵黄样物质积聚于RPE水平或其下的假说,BVMD的典型图像特征对评价患者治疗和预后有重要意义。     

Clinicopathologic findings in Best vitelliform macular dystrophy

Purpose  

To correlate the clinical and histopathologic features of Best vitelliform macular dystrophy (BVMD).     

卵黄样黄斑营养不良的多模式影像特征观察

目的：观察卵黄样黄斑营养不良(BVMD,别称Best病)的多模式影像特征。

方法：收集2016-06/2022-10于南京医科大学眼科医院确诊为Best病Ⅰ-Ⅳ期的患者30例60眼的临床资料进行回顾性分析,均双眼发病。所有患者均行最佳矫正视力(BCVA)、裂隙灯显微镜、间接眼底镜、眼压、眼底彩色照相、频域光学相干断层扫描(SD-OCT)、眼底自发荧光(FAF)、荧光素眼底血管造影(FFA)、眼电图(EOG)及光学相干断层扫描血管成像(OCTA)。

结果：共纳入患者30例60眼,其中Ⅰ期8眼,Ⅱ期24眼,Ⅲ期22眼,Ⅳ期6眼,眼底彩色照相、FAF、FFA、SD-OCT的影像特征与既往文献报道基本一致,EOG显示Arden比均<1.55,OCTA能够发现早期病灶,观察到卵黄样物质、光感受器外节、液体的位置分布及有无CNV形成。

结论：多模式影像有助于Best病的诊断,减少临床上漏诊、误诊,其中OCTA较其他检查有明显优势,快捷无创是其最大优势。     

Multimodal fundus imaging in Best vitelliform macular dystrophy

Background  

Best vitelliform macular dystrophy (BVMD) is a rare autosomal dominant retinal disease of highly variable phenotypic expression. Interpretations of disease mechanisms based on histopathology, electrophysiology, genetic analysis, and retinal imaging are somewhat discordant in fundamental issues such as the location and extension of primary retinal changes. Herein we describe the morphological macular features in patients with BVMD undergoing simultaneous multimodal fundus imaging and compare to those of normal age-matched subjects.     

A model of best vitelliform macular dystrophy in rats

PURPOSE: The VMD2 gene, mutated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial (RPE) cells. BMD is characterized by a depressed light peak (LP) in the electro-oculogram. Bestrophin is thought to be the Cl channel that generates the LP. The goal was to generate an animal model of BMD and to determine the effects of bestrophin overexpression on the RPE-generated components of the ERG. METHODS: Bestrophin or bestrophin mutants (W93C or R218C) were overexpressed in the RPE of rats by injection of replication-defective adenovirus. Immunofluorescence microscopy and ERG recordings were used to study subsequent effects. RESULTS: Bestrophin was confined to the basolateral plasma membrane of the RPE. Neither wild-type (wt) nor mutant bestrophin affected the a- or b-waves of the ERG. Wt bestrophin, however, increased the c-wave and fast oscillation (FO), but not the LP. In contrast, both mutants had little or no effect on the c-wave and FO, but did reduce LP amplitude. LP amplitudes across a range of stimuli were not altered by wt bestrophin, though the luminance response function was desensitized. LP response functions were unaffected by bestrophin R218C but were significantly altered by bestrophin W93C. CONCLUSIONS: A model of BMD was developed in the present study. Because overexpression of wt bestrophin shifted luminance response but did not alter the range of LP response amplitudes, the authors conclude that the rate-limiting step for generating LP amplitude occurs before activation of bestrophin or that bestrophin does not directly generate the LP conductance.