RESUMEN
We report a case of a 78-year-old man presenting with uncertain visual field loss, ultimately identified as posterior polar hemispheric choroidal dystrophy (PPHCD) using ultra-widefield fundus autofluorescence (FAF) and optical coherence tomography angiography (OCTA). The patient initially reported blurred vision in the left eye and had a previous diagnosis of suspected bilateral normal tension glaucoma based on optic nerve head excavation and static perimetry measurements. Detailed examination revealed suspicious retinal atrophy. Notably, the patient had a tigroid fundus, which complicated the correlation between visual field defect and chorioretinal atrophy. Ultra-widefield FAF highlighted mosaic/patchy hypofluorescent areas, emphasizing this atrophy. OCTA images confirmed choriocapillaris loss in the hemispheric choroidal atrophy and parafoveal atrophy. The combination of these imaging techniques enabled a definitive diagnosis of PPHCD. Long-term follow-up and continued investigation with these imaging modalities may hold promise for a better understanding of disease progression and management in similar cases.
RESUMEN
To examine the similarity of wide-field fundus autofluorescence (FAF) imaging in inherited retinal dystrophy between siblings and between parents and their children. The subjects included 17 siblings (12 with retinitis pigmentosa and 5 with cone rod dystrophy) and 10 parent-child pairs (8 with retinitis pigmentosa and 2 with cone rod dystrophy). We quantified the similarity of wide-field FAF using image processing techniques of cropping, binarization, superimposition, and subtraction. The estimated similarity of the siblings was compared with that of the parent-child pairs and that of the age-matched unrelated patients. The similarity between siblings was significantly higher that of parent-child pairs or that of age-matched unrelated patients (P = 0.004 and P = 0.049, respectively). Wide-field FAF images were similar between siblings with inherited retinal dystrophy but different between parent-child pairs. This suggests that aging is a confounding factor in genotype-phenotype correlation studies.
Asunto(s)
Fluorescencia , Fondo de Ojo , Lipofuscina/química , Distrofias Retinianas/diagnóstico , Factores de Edad , Salud de la Familia , Estudios de Asociación Genética , Genotipo , Humanos , Lipofuscina/metabolismo , Microscopía Confocal , Oftalmoscopía , Fenotipo , Distrofias Retinianas/genética , Distrofias Retinianas/metabolismo , Epitelio Pigmentado de la Retina/química , Epitelio Pigmentado de la Retina/metabolismo , Epitelio Pigmentado de la Retina/patología , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/metabolismo , Hermanos , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: To compare autofluorescence (AF) findings using wide-field (Optomap) and conventional (HRA-AF) confocal scanning laser ophthalmoscopy (cSLO) systems in patients with central serous chorioretinopathy (CSC), and to investigate the correlations between AF findings and functional and anatomical status. METHODS: Optical coherence tomography (OCT) and AF images were compared in 73 eyes with serous retinal detachment (SRD) (group A) and 30 eyes without SRD (group B). We evaluated AF findings from the SRD region, atrophic area, and foveola. Correlations between AF findings and outer retinal abnormalities in OCT and visual acuity (VA) were analyzed. RESULTS: Optomap-AF was more effective than HRA-AF in identifying the margins of a detached area (P = 0.001) in group A, and for monitoring mild outer retinal damage (P = 0.041) in group B. The foveolar AF grades in both instruments were significantly correlated with VA and central foveal thickness (CFT) in both group A (Optomap, VA r s = 0.33, P = 0.012; CFT r s = -0.38, P = 0.002; HRA, VA r s = 0.62, P < 0.001; CFT r s = -0.70, P < 0.001) and group B (Optomap, VA r s = 0.71, P < 0.001, CFT r s = -0.78, P < 0.001; HRA, VA r s = 0.40, P = 0.026, CFT r s = -0.40, P = 0.030). CONCLUSIONS: Optomap-AF was found to be advantageous for monitoring subretinal status in eyes with SRD, and more accurately reflected mild outer retinal changes in eyes without SRD. Foveolar AF grades of both imaging modalities were significantly correlated with functional and anatomical status.
Asunto(s)
Coriorretinopatía Serosa Central/diagnóstico , Coroides/diagnóstico por imagen , Angiografía con Fluoresceína/métodos , Microscopía Confocal/métodos , Oftalmoscopios , Epitelio Pigmentado de la Retina/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Adulto , Anciano , Coriorretinopatía Serosa Central/fisiopatología , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Retina/diagnóstico por imagen , Estudios Retrospectivos , Agudeza VisualRESUMEN
PURPOSE: To describe the peripheral autofluorescence images and clinical features of patients with retinal dystrophy who showed radial fundus autofluorescence (FAF) at the posterior pole. METHODS: The authors retrospectively reviewed pooled wide-field FAF images of 711 patients with retinal dystrophy and 56 family members. RESULTS: Eleven eyes of seven women exhibited radial FAF at the posterior pole. Wide-field FAF showed extension of the radial pattern to the periphery in all eyes except one. One woman showed radial hyper-FAF only in the periphery, not at the posterior pole. These eight individuals were X-linked retinitis pigmentosa patients or carriers. The tapetal-like reflex was not observed in their color fundus photographs. The peripheral visual field showed wedge-shaped restriction in some individuals. CONCLUSION: Wide-field FAF imaging can depict radial FAF not only at the posterior pole but also in the periphery in X-linked retinitis pigmentosa carriers. The authors therefore agree with previous reports that radial FAF may be a hallmark of X-linked retinitis pigmentosa.