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PURPOSE: To present electroretinogram findings in extensive macular atrophy with pseudodrusen (EMAP) and describe associated systemic factors. DESIGN: Retrospective case series. METHODS: Data on medical history, visual symptoms, multimodal imaging findings, and visual field were collected from the medical records of patients with extensive macular atrophy with pseudodrusen who attended a visual electrophysiology laboratory. Electrophysiological tests, including full-field electroretinogram, multifocal electroretinogram and photopic negative response, were performed. RESULTS: Eighteen patients (10 [56%] females, age 49-66 years) were included. Of these, 17 (94%) had a history of rheumatic fever in childhood and/or adolescence, 7 (39%) had cardiovascular disease, 4 (22%) had autoimmune disease, and 10 (56%) had inflammatory conditions. The primary visual complaints were nyctalopia (95%), followed by visual field loss (67%) and dyschromatopsia (67%). The key retinal findings included retinal pigmented epithelium atrophy in the macular region and subretinal drusenoid deposits. Regarding electrophysiological results, 100% of patients had abnormalities on multifocal electroretinogram, 94% displayed alterations in photopic negative response, and 78% showed changes in the full-field electroretinogram. CONCLUSIONS: In this cohort, electrophysiologic evaluation demonstrated diffuse retinal dysfunction affecting all layers of the retina in patients with EMAP. The disease is associated with immune-mediated systemic conditions, chiefly rheumatic fever.

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PURPOSE: To describe the clinical characteristics of two patients affected by extensive macular atrophy with pseudodrusen-like (EMAP). METHODS: Two patients affected by EMAP underwent multimodal imaging, including fundus autofluorescence and optical coherence tomography. RESULTS: The patients showed the typical clinical appearance with macular atrophy with larger vertical axis surrounded by pseudodrusen-like deposits involving the midperiphery, associated with paving stone lesions in the retinal periphery. CONCLUSION: EMAP is a complex condition sharing clinical characteristics of age-related macular degeneration. Further studies are warranted to identify the early biomarker of the disease.

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The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with acular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

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Drusen are extracellular deposits between the basal lamina of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. Large colloid drusen (LCD) are located below the RPE and are characterized by multiple, large, dome-shaped RPE detachments, with marked attenuation of the ellipsoid zone overlaying the drusen. This report presents the structural en face optical coherence tomography (OCT) findings of LCD and relates them to findings from fluorescein and indocyanine green angiography. We describe the case of a 55-year-old woman who presented with the chief complaint of a 5-year history of progressively worsening vision. Her best-corrected visual acuities were 20/40 and 20/400 in the right eye and the left eye, respectively. Fundus examination showed large bilateral, symmetrical, sub-retinal, yellowish lesions compatible with LCD. We describe the structural en face OCT characteristics and angiographic findings from this patient.

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ABSTRACT Drusen are extracellular deposits between the basal lamina of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. Large colloid drusen (LCD) are located below the RPE and are characterized by multiple, large, dome-shaped RPE detachments, with marked attenuation of the ellipsoid zone overlaying the drusen. This report presents the structural en face optical coherence tomography (OCT) findings of LCD and relates them to findings from fluorescein and indocyanine green angiography. We describe the case of a 55-year-old woman who presented with the chief complaint of a 5-year history of progressively worsening vision. Her best-corrected visual acuities were 20/40 and 20/400 in the right eye and the left eye, respectively. Fundus examination showed large bilateral, symmetrical, sub-retinal, yellowish lesions compatible with LCD. We describe the structural en face OCT characteristics and angiographic findings from this patient.

RESUMO Drusas são depósitos extracelulares localizados entre a lâmina basal do epitélio pig mentado da retina (RPE) e a camada colágena interna da membrana de Bruch. Drusas grandes coloidais (LCD) estão localizadas abaixo do EPR, e são caracterizadas por múltiplos descolamentos cupuliformes do EPR com atenuação da zona elipsoide sobrejacente às drusas. O objetivo deste relato é apresentar os achados de tomografia de coerência óptica (OCT en face estrutural em uma paciente com LCD, bem como correlacioná-los com angiografia fluoresceínica e angiografia com indocianina verde. Descrevemos o caso de uma paciente do sexo feminino, 55 anos, que referiu baixa acuidade visual em ambos os olhos há 5 anos. Sua acuidade visual corrigida era de 20/40 no olho direito e 20/400 no olho esquerdo. Ao exame fundoscópico a paciente apresentava lesões compatíveis com drusas grandes coloidais. As características tomográficas e angiográficas também são descritas neste relato de caso.

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BACKGROUND: Central serous choroidopathy is a macular disease, usually with a self-limited and benign course, and predominantly affects male patients between 20 and 45 years old. CLINICAL CASE: A 68 year-old female patient complained of decreased visual acuity of her right eye of approximately 3 weeks of onset. Best corrected visual acuity in her right eye was 20/100. Fundus examination revealed a macular serous detachment involving its centre, as well as the presence of multiple calcified drusen. Fluorescein angiography showed late parafoveal leakage in a "smokestack" pattern in the right macular area. Optical coherence tomography showed a dome-shape macular detachment, also in the right eye. The patient was observed every 2 weeks and spontaneous resolution of the macular detachment was seen a month later. Based on these clinical features, a diagnosis was made of central serous choroidopathy of atypical presentation. CONCLUSIONS: Atypical presentation cases of serous central choroidopathy might be seen occasionally. Hence, it is an important differential diagnosis of age related macular degeneration in patients older than 60 years.

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The authors make a review of drusenoid retinal pigment epithelium detachments(DPDs), a form of retinal pigment epithelium detachment(PED) that evolves from confluent and large soft drusen.Drusenoidretinal pigment epithelial detachments are a recognized element of the "dry" AMD. Until now, no treatment is indicated in drusenoid PEDs. The authors describe the clinical characteristics of drusenoid retinal pigment epithelium detachments (DPEDs) and make a review of the DPEDs related in the international literature. We related in this revision paper the multimodal advanced image exams in two cases of dusenoid retinal pigment epithelium detachments (DPEDs) and the general characteristics of thisfinding associated with Dry Macular degeneration.Upon examination of the ocular fundusDPEDs emerge as well-circumscribed yellow or yellow–white elevations of the RPE that are usually found within the macula.They may show scalloped borders and a slightly irregular surface. When visualized using fluorescein angiography (FA),DPEDs are typically described as faint hyper-fluorescent in the early phase followed by a slow increase in fluorescence throughout the transit stage of the study without late leakage. With optical coherence tomography (OCT), drusenoid PEDs usually show a smooth contour of the detached hyperreflective RPE band that may have an undulating appearance.Drusenoid PEDs encompass far above the ground possibility type of "dry" AMD that develops in relationship with large confluent soft drusen.At this point no treatment is utilized in drusenoid retinal pigment epithelium detachment(DPEDs).

Os autores fazem uma revisão do descolamento do epitélio pigmentar tipo drusenoide e apresentam dois casos desta patologiaassociada à degeneração macular relacionadaà idade descrevendo seus achados em avançados exames com imagem da retina.Neste artigo de revisão da literatura sobre os achados característicos dodescolamento do epitélio pigmentar tipodrusenoide e sua evolução descrevemos os achados de dois casosassociados à degeneração macular relacionada à idade, forma seca, utilizando exames como SD-OCT, fundusautofluorescencia e angiografia com indocianinaverde, além de retinografiacolorida e fluoresceínica. Odescolamento do epitélio pigmentar tipo druside evolui á partir de drussas moles confluentes presentes na degeneração macular relacionada à idade e é também associado a outras doenças retinianas. Até este momento não há tratamento para esta forma da doença.

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PURPOSE: Correlate OCT-derived measures of drusen and retinal pigment epithelium (RPE) atrophy areas (RAs) with demographic features in an elderly population. PATIENTS AND METHODS: Subjects aged 50 years and older underwent Cirrus OCT scanning. Drusen area and volume were obtained from the macula within a central circle (CC) of 3 mm and a surrounding perifoveal ring (PR) of 3-5 mm, using the RPE analysis software (6.0). RA measurements were generated for the 6 × 6 mm(2) retinal area. Gender, age, smoking status, and systolic blood pressure (SBP) were considered. RESULTS: A total of 434 eyes were included. RA was larger in women (0.63±0.16 vs 0.26±0.08 mm(2), P=0.05) and with increasing age. The PR drusen area increased with increasing age (P<0.001), whereas the CC drusen area remained stable after the age of 70 years (0.25±0.06 mm(2) for ages 70-79 years and 0.25±0.07 mm(2) for ages >80 years). Drusen volume in the CC was smaller after the age of 80 years (0.009±0.003 mm(3)) compared with the 70- to 79-year-old group (0.02±0.008 mm(3)). Drusen measurements were similar between smokers and nonsmokers, but the PR drusen area (0.29 mm(2), P=0.05) and volume (0.40 mm(3), P=0.005) were correlated with years smoked. RA (0.24 mm(2), P=0.10), PR drusen area (0.29 mm(2), P=0.05), and volume (0.40 mm(3), P=0.005) were found to be directly associated with SBP. There was a high correlation between the eyes of the same subject. CONCLUSION: OCT-based automated algorithms can be used to analyze and describe drusen and geographic atrophy burden in such population-based studies of elderly patients.

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