Occult macular dystrophy: brief literature review / Distrofia macular ocular: breve revisão da literatura

ABSTRACT Occult macular dystrophy is characterized by a slowly progressive bilateral reduction of visual acuity in patients with normal fundus and fluorescein angiography. We describe a case of a 36-year-old male patient diagnosed with this condition, after extensive investigation with multimodal imaging, electrophysiology tests, and systemic screening.

RESUMO A distrofia macular oculta é caracterizada por perda visual, lentamente progressiva, em pacientes com fundoscopia e angiografia fluoresceínica normais. Relatamos o caso de um paciente de 36 anos do sexo masculino diagnosticado com essa condição após extensa investigação com exames de imagem multimodais, eletrofisiológicos e rastreio de doenças sistêmicas.

Distrofia macular viteliforme de Best asociada a membrana neovascular coroidea en edad pediátrica / Vitelliform macular dystrophy and its association with choroidal neovascular membrane in pediatric age

Resumen La enfermedad de Best, también llamada distrofia macular viteliforme es una maculopatía autosómica dominante que se presenta por mutaciones en el gen BEST 1, localizado en el epitelio pigmentario de la retina. Clínicamente, hace parte de las cinco enfermedades degenerativas de la retina distinguidas como bestrofinopatías. En etapas iniciales de la enfermedad puede presentarse agudeza visual normal; sin embargo, en la mayoría de los pacientes hay pérdida progresiva de la misma debido al depósito subfoveal de material amarillo. Algunos pacientes también pueden presentar neovascularización coroidea, siendo esta una complicación poco común. En población pediátrica el tratamiento temprano con ranibizumab de la enfermedad asociada a neovascularización coroidea ha evidenciado mejoría del pronóstico. Aunque son necesarios más estudios que valoren su eficacia y se ha registrado buena respuesta al tratamiento con otros medicamentos, este sigue siendo la primera elección. Se presenta el caso de una paciente quien a los trece años fue diagnosticada con distrofia macular viteliforme y fue tratada exitosamente con ranibizumab durante dos años.

Abstract Best's disease, also called vitelliform macular dystrophy is an autosomal dominant maculopathy, which is caused by mutations in the BEST 1 gene, located in the retina pigment epithelium. Is part of the five retina degenerative diseases clinically distinguished as bestrophinopathies. Affected individuals, in the early disease stages may present normal visual acuity; however, in most patients there is a progressive loss of this material in the deposit of subfoveal yellow material. Some patients may also present choroidal neovascularization, an uncommon complication. In pediatric population, early disease treatment associated with choroidal neovascularization with ranibizumab has shown a prognosis improvement. Although more studies are needed to assess its efficacy in this condition and good response to treatment with other medications, this still being the first choice. We present a patient who at thirteen years was diagnosed with VMD and was successfully treated with ranibizumab for two years.

Autofluorescência em um caso de distrofia macular anular concêntrica benigna / Fundus autofluorescence in a case of benign concentric annular macular dystrophy

Resumo A distrofia macular anular concêntrica benigna (DMACB) é uma patologia retiniana rara e provavelmente subdiagnosticada em nosso meio, que se caracteriza por um defeito retiniano em bull's eye sem uso prévio de antimaláricos, associado à preservação relativa da acuidade visual. Devido à escassez de publicações sobre o tema, existem poucos dados referentes aos resultados dos exames complementares nesta patologia. No presente artigo, apresenta-se a descrição da autofluorescência em um caso clássico de DMACB, ainda inédita na literatura, podendo acrescentar achados importantes para auxiliar no diagnóstico e seguimento da doença.

Abstract The benign concentric annular macular dystrophy (BCAMD) is a very rare and probably underdiagnosed eye disease, characterized by a retinal fault in bull's eye pattern, without the association with antimalarial use, but related with good visual acuity. Since there aren't many publications about this condition, is hard to find data regarding the results of complementary examination. In this article, is presented the description of fundus autofluorescence in a classic BCAMD case, yet unpublished, and capable of helping the diagnosis and follow-up of this pathology.

Enfermedad de Stargardt. Presentación de un caso / Stargardt´s disease. A case report

RESUMEN La enfermedad de Stargardt y el fondo flavimaculatus son variantes de una misma entidad nosológica, que constituyen la distrofia macular juvenil más frecuente, y una causa común de pérdida de visión central en adultos menores de 50 años. Se trata de una paciente femenina de 35 años con enfermedad de Stargardt, atendida en una unidad básica avanzada en salud del municipio de Vila Nova do Piauí, Brasil, que actualmente presenta baja capacidad visual. Se presenta una lesión macular localizada en la región foveal, de aspecto bronceado y pálido en la región temporal de la papila óptica. A nivel histológico, se produce un cúmulo de material tipo lipofuscina en las células del epitelio pigmentario de la retina, por la mutación del gen ABCA4. La incidencia de la enfermedad de Stargardt se sitúa alrededor de una persona afectada entre 10 000 y suele afectar a adolescentes y adultos jóvenes.

ABSTRACT Stargardt's disease and the flavimaculatus fund are variants of the same nosological entity. They constitute the most frequent juvenile macular dystrophy and common cause of central vision loss in adults under 50 years of age. A 35-year-old female patient who was diagnosed with Stargardt's disease currently suffers from low visual capacity. We present findings of a localized macular lesion in the foveal region of the bronzed and pale aspect in the temporal region of the optic papilla. At the histological level, a cluster of lipofuscin-like material is produced in the cells of the retinal pigment epithelium by the mutation of the ABCA4 gene. The incidence of Stargardt disease is around one person affected by 10,000 people and usually affects adolescents and young adults under 20 years old.

Retinal dystrophies and variants in PRPH2 / Distrofias retinianas e variantes em PRPH2

ABSTRACT - This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

RESUMO - Este relato apresenta três pacientes com diagnóstico de distrofias maculares com mutações no PRPH2. Periferina 2, a proteína deste gene, é importante na morfogênese e estabilização do segmento externo dos fotorreceptores. Deficiências de periferina 2 causam apoptose celular. Além disso, variantes patogênicas no PRPH2 estão relacionadas a diferentes doenças, como distrofia padrão, distrofia padrão em asa de borboleta, distrofia central areolar, distrofia viteliforme do adulto, retinose pigmentar, distrofia de cones e bastonetes, retinite punctata albscens, amaurose congênita de Leber, fundus flavimaculatus e doença de Stargardt.

Phenotypic expression variability in Best Disease: a purpose of a series of cases / Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série de casos

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.

Resumo O objetivo do presente trabalho é a documentação da variabilidade de expressão fenotípica da Doença de Best em parentes de primeiro grau. As informações foram obtidas por meio de revisão do prontuário, entrevista com o paciente e registro fotográfico dos métodos diagnósticos aos quais os pacientes foram submetidos. Dados foram analisados junto a uma extensa revisão da literatura. Relatamos uma série de casos, no qual o paciente que apresenta as alterações fenotípicas da doença tem familiares de primeiro grau sem alterações ao exame oftalmológico, porém os mesmos apresentam padrão anormal de eletro-oculograma (EOG). O nosso artigo revela a importância dos exames eletrofisiológicos no diagnóstico da distrofia macular viteliforme de Best, inclusive no que se refere à prevenção de sua manifestação clínica (autossômica dominante), fornecendo subsídios concretos para o aconselhamento genético.

Presentación de tres casos de distrofia macular de North Carolina / Presentation of three cases with North Carolina macular dystrophy

Se presentan las características oftalmológicas de tres pacientes, dos hermanos varones y su padre con diagnóstico de distrofia macular de North Carolina. Este es un trastorno genético que produce degeneración macular congénita o de inicio precoz. Se caracteriza por una herencia autosómica dominante, con penetrancia completa, genéticamente mapeados en el cromosoma 6q16. Las lesiones son principalmente estacionarias. Las manifestaciones fundoscópicas varían. En estos pacientes predomina la lesión disciforme en área macular, disminución del grosor macular correspondiente con el coloboma macular, con idénticas particulares en los tres pacientes. La agudeza visual varía en rango de 0,6 a 0,2 en estos pacientes.

The ophthalmological characteristics of three patients, two male siblings and their father, with diagnosis of North Carolina macular dystrophy were presented. This is a genetic dysfunction that causes congenital or early onset macular degeneration. It is characterized by a dominant autosomal heredity, with complete penetrance, genetically mapped in the chromosome 6q16. The lesions are mainly stationary. The funduscopic manifestations vary. The type of lesion is mainly stationary whereas funduscopic manifestations are varied. The dysciform lesion in the macular area and decrease of the macular thicness according to the macular coloboma prevailed, with identical particularities in the three patients. The visual acuity varied from 0.6 to 0.2.

Distrofias del epitelio pigmentario de la retina en patrón / Pattern dystrophies of the retinal pigment epithelium

Las distrofias en patrón son patologías de la retina genéticamente determinadas que se caracterizan por anormalidades en el epitelio pigmentario que se visualizan en el fondo de ojo conformando diversos patrones de puntos o líneas. Realizamos una revisión detallada de las diversas variedades de presentación y sus características más importantes, e incluimos una secuencia fotográfica de las más representativas.

Pattern dystrophies are defined as a group of diseases genetically determined and characterized by pigment epithelium changes that are seen on fundus examination, such as various line and dot patterns. We present a review of these pathologies including a comparative table reporting the main characteristics as well as some representative figures of each one in order to facilitate diagnosis.