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UNRAVELED FRINGE-LIKE MARGINS AND BIPHASIC AUTOFLUORESCENCE OF UNILATERAL RETINAL PIGMENT EPITHELIUM DYSGENESIS
摘要： To illustrate the features of unilateral retinal pigment epithelium dysgenesis (URPED) in an African-American male patient. A 47-year-old asymptomatic African-American man was referred for an atypical subretinal pigmented mass in the left eye. On examination, visual acuity was 20/20 in both eyes. The right eye was unremarkable. The left eye revealed a darkly pigmented grey-black lesion at the level of the RPE with irregular, unraveled fringe-like margins, consistent with URPED. The lesion measured 5 mm in basal dimension and was located 400 mm from the foveola. The dark portion of the lesion was grey-black and demonstrated homogeneous hypoauto?uorescence, particularly at the site of grey-white peripheral fringe of ?brous metaplasia. By contrast, there was an additional, subtle lacey arrangement of normal-appearing RPE traversing over the entire lesion demonstrating isoauto?uorescence. On ?uorescein angiography, the lesion was generally hypo?uorescent, particularly in the dark portion of the lesion, but the peripheral fringe of ?brous metaplasia displayed angiographic hyper?uorescent staining, and the subtle lacey normal RPE showed iso?uorescence. Optical coherence tomography demonstrated RPE hyperplasia and shallow RPE detachment interspersed with normal-appearing RPE and thinning of outer retina and preservation of the foveola and choroid. In this case, URPED demonstrated biphasic auto?uorescence implying RPE dysfunction in the hypoauto?uorescent area and partial RPE function in the lacey isoauto?uorescent region.
关键词： optical coherence tomography,African-American,retinal pigment epithelium,auto?uorescence,race,dysgenesis
更新于2025-09-12 10:27:22
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Granular lesions of short-wavelength and near-infrared autofluorescence in diabetic macular oedema
摘要： Objectives To document and characterise hyper- and hypo-re?ective lesions, which we describe as ‘granular’ on short-wavelength auto?uorescence (SW-AF) and near-infrared (NIR)-AF images in diabetic macular oedema (DMO). Methods Consecutive 103 eyes of 78 patients suffering from centre-involving DMO were reviewed retrospectively. Mosaics of hyper- and hypo-?uorescent dots on both SW-AF and NIR-AF signals were delineated and de?ned as granular lesions in the macula. We evaluated the association of such lesions with the logarithm of the minimum angle of resolution visual acuity (logMAR VA) and spectral-domain optical coherence tomography (SD-OCT) images. Results Diffuse mosaics of hyper- and hypo-?uorescent dots were delineated in 36 and 45 eyes on SW-AF and NIR-AF images, respectively, and both AF images de?ned granular lesions in 33 eyes. These lesions were delineated in both the fovea and extrafoveal areas on NIR-AF images but were limited to the parafoveal and perifoveal sub?elds on SW-AF images. There was a signi?cant difference in logMAR VA between eyes with and without granular lesions (0.358 ± 0.269 vs. 0.185 ± 0.234; P = 0.001). Granular lesions were associated with the mosaic pattern on NIR-AF images (P < 0.001) but not with other parameters on SW-AF and NIR-AF images. The retinal thickness in the central sub?eld was greater in eyes with granular lesions (538.0 ± 163.6 μm vs. 448.8 ± 120.2 μm; P = 0.003). Granular lesions were associated with ELM disruption and hyper-re?ective foci in the outer retinal layers (P = 0.004 and P = 0.037, respectively). Conclusions Granular lesions de?ned on both SW-AF and NIR-AF images were related to retinal oedema with photoreceptor damage and concomitant VA reduction in DMO.
关键词： diabetic macular oedema,photoreceptor damage,near-infrared auto?uorescence,granular lesions,short-wavelength auto?uorescence
更新于2025-09-09 09:28:46
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Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography
摘要： PURPOSE. We evaluated the incongruous observation whereby ?ecks in recessive Stargardt disease (STGD1) can exhibit increased short-wavelength auto?uorescence (SW-AF) that originates from retinal pigment epithelium (RPE) lipofuscin, while near-infrared AF (NIR-AF), emitted primarily from RPE melanin, is usually reduced or absent at ?eck positions. METHODS. Flecks in SW- and NIR-AF images and spectral-domain optical coherence tomography (SD-OCT) scans were studied in 19 STGD1 patients carrying disease-causing ABCA4 mutations. Fleck spatial distribution and progression were recorded in serial AF images. RESULTS. Flecks observed in SW-AF images typically colocalized with darkened foci in NIR-AF images; the NIR-AF pro?les were larger. The decreased NIR-AF signal from ?ecks preceded apparent changes in SW-AF. Spatiotemporal changes in ?eck distribution usually progressed centrifugally, but in one case centripetal expansion was observed. Flecks in SW-AF images corresponded to hyperre?ective deposits that progressively traversed photoreceptor-attributable bands in SD-OCT images. Outer nuclear layer (ONL) thickness negatively correlated with expansion of ?ecks from outer to inner retina. CONCLUSIONS. In the healthy retina, RPE lipofuscin ?uorophores form in photoreceptor cells but are transferred to RPE; thus the SW-AF signal from photoreceptor cells is negligible. In STGD1, NIR-AF imaging reveals that ?ecks are predominantly hypo?uorescent and larger and that NIR-AF darkening occurs prior to heightened SW-AF signal. These observations indicate that RPE cells associated with ?ecks in STGD1 are considerably changed or lost. Spectral-domain OCT ?ndings are indicative of ongoing photoreceptor cell degeneration. The bright SW-AF signal of ?ecks likely originates from augmented lipofuscin formation in degenerating photoreceptor cells impaired by the failure of RPE.
关键词： lipofuscin,fundus auto?uorescence,recessive Stargardt disease,optical coherence tomography,retinal pigment epithelium,ABCA4,scanning laser ophthalmoscope
更新于2025-09-09 09:28:46
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Quantitative Fundus Autofluorescence and Optical Coherence Tomography in <i>ABCA4</i> Carriers
摘要： PURPOSE. To assess whether carriers of ABCA4 mutations have increased RPE lipofuscin levels based on quantitative fundus auto?uorescence (qAF) and whether spectral-domain optical coherence tomography (SD-OCT) reveals structural abnormalities in this cohort. METHODS. Seventy-?ve individuals who are heterozygous for ABCA4 mutations (mean age, 47.3 years; range, 9–82 years) were recruited as family members of affected patients from 46 unrelated families. For comparison, 57 affected family members with biallelic ABCA4 mutations (mean age, 23.4 years; range, 6–67 years) and two noncarrier siblings were also enrolled. Auto?uorescence images (308, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal ?uorescent reference. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magni?cation, and normative optical media density to yield qAF. Horizontal SD-OCT scans through the fovea were obtained and the thicknesses of the outer retinal layers were measured. RESULTS. In 60 of 65 carriers of ABCA4 mutations (age range, 9–60), qAF levels were within normal limits (95% con?dence level) observed for healthy noncarrier subjects, while qAF levels of affected family members were signi?cantly increased. Perifoveal ?eck-like abnormalities were observed in fundus AF images in four carriers, and corresponding changes were detected in the outer retinal layers in SD-OCT scans. Thicknesses of the outer retinal layers were within the normal range. CONCLUSIONS. With few exceptions, individuals heterozygous for ABCA4 mutations and between the ages of 9 and 60 years do not present with elevated qAF. In a small number of carriers, perifoveal ?eck-like changes were visible.
关键词： heterozygous carrier,retinal pigment epithelium,lipofuscin,recessive Stargardt disease,optical coherence tomography,quantitative fundus auto?uorescence,Abca4,scanning laser ophthalmoscope
更新于2025-09-04 15:30:14