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      Distrofia macular oculta Translated title: Occult macular dystrophy

      case-report

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          Abstract

          Resumo Apresentamos um caso de distrofia macular oculta bilateral, em paciente de 70 anos com queixa de baixa acuidade visual progressiva, sem achados fundoscópicos ou angiográficos justificáveis. Foram realizados exames de imagem do sistema nervoso central que afastaram lesões expansivas e testes eletrofisiológicos que sugeriram diagnóstico.

          Translated abstract

          Abstract We report a case of bilateral occult macular dystrophy in a 70-year-old woman with progressive low visual acuity, without justifiable fundoscopic or angiographic findings. Imaging tests were done to excluding expansive lesions and electrophysiological tests that suggested the diagnosis.

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          RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

          Alice E. Davidson, Panagiotis Sergouniotis, Donna Mackay … (2013)
          In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration, homozygosity mapping, and candidate gene sequencing suggested a novel locus. Exome sequencing identified a homozygous frameshifting mutation, c.601delG, p.Lys203Argfs*28, in RP1L1 encoding RP 1-like1, a photoreceptor-specific protein. A screen of a further 285 unrelated individuals with autosomal recessive RP identified an additional proband, homozygous for a missense variant, c.1637G>C, p.Ser546Thr, in RP1L1. A distinct retinal disorder, occult macular dystrophy (OCMD) solely affects the central retinal cone photoreceptors and has previously been reported to be associated with variants in the same gene. The association between mutations in RP1L1 and the disorder OCMD was explored by screening a cohort of 28 unrelated individuals with the condition; 10 were found to harbor rare (minor allele frequency ≤0.5% in the 1,000 genomes dataset) heterozygous RP1L1 missense variants. Analysis of family members revealed many unaffected relatives harboring the same variant. Linkage analysis excluded the possibility of a recessive mode of inheritance, and sequencing of RP1, a photoreceptor protein that interacts with RP1L1, excluded a digenic mechanism involving this gene. These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease. © 2012 Wiley Periodicals, Inc.
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            NovelRP1L1Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

            Kaoru Fujinami, Shuhei Kameya, Sachiko Kikuchi … (2016)
            To determine the clinical and genetic characteristics of Japanese patients with occult macular dystrophy (OMD) in a nationwide multicenter study.
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              Occult macular dystrophy.

              Yozo Miyake, Kazushige Tsunoda (2015)
              Occult macular dystrophy (OMD) was first reported in 1989 as a hereditary macular disease without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity but have normal fundus and fluorescein angiograms with both the rod and cone components of the full-field electroretinograms (ERGs) essentially normal. However, the focal macular ERGs and multifocal ERGs are severely attenuated. These findings indicate that the retinal dysfunction is confined to the macula. Optical coherence tomography (OCT) has shown structural changes in the outer nuclear and/or photoreceptor layers. Genetic analyses of OMD pedigrees have identified dominant mutations in the RP1L1 gene. However, the same mutations were not detected in sporadic cases, suggesting that several independent mutations can lead to the OMD phenotype. The purpose of this paper is to review the history of OMD, the visual functions determined psychophysically, ERG findings, OCT characteristics and genetic findings in patients with OMD.
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                Author and article information

                Journal
                Journal ID (publisher-id): rbof
                Title: Revista Brasileira de Oftalmologia
                Abbreviated Title: Rev. bras.oftalmol.
                Publisher: Sociedade Brasileira de Oftalmologia (Rio de Janeiro, RJ, Brazil )
                ISSN (Print): 0034-7280
                ISSN (Electronic): 1982-8551
                Publication date (Print and electronic): March 2020
                Volume: 79
                Issue: 2
                Pages: 128-130
                Affiliations
                [2] Rio de Janeiro Rio de Janeiro orgnameUniversidade Federal do Rio de Janeiro orgdiv1Programa de Residência em Oftalmologia Brazil
                [3] Rio de Janeiro Rio de Janeiro orgnameUniversidade Federal do Rio de Janeiro orgdiv1Serviço de Oftalmologia Brazil
                [1] Rio de Janeiro Rio de Janeiro orgnameUniversidade Federal do Rio de Janeiro Brazil
                Article
                Publisher ID: S0034-72802020000200128 Publisher ID: S0034-7280(20)07900200128
                DOI: 10.5935/0034-7280.20200027
                SO-VID: b14b362d-2ea4-458d-9163-6483f3726b39
                License:

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                Date accepted : 24 June 2019
                Date received : 25 March 2019
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 13, Pages: 3
                Product

                SciELO Brazil

                Categories
                Subject: Relatos de Casos

                Keywords: Electroretinogram,Macular degeneration,Acuidade visual,Eletrofisiologia,Eletrorretinograma,Degeneração macular,Visual acuity,Electrophysiology
                Data availability:
                Keywords: Electroretinogram, Macular degeneration, Acuidade visual, Eletrofisiologia, Eletrorretinograma, Degeneração macular, Visual acuity, Electrophysiology

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