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PATTERN DYSTROPHIES: REVIEW OF A CASE ASSOCIATED WITH PRPH2 GENE MUTATION

Resumo

Introduction: Pattern Dystrophies PD present accumulation of lipofuscin in the RPE Retinal Pigment Epithelium. Autosomal dominant macular diseases AD with various patterns of deposits, due to mutations in the PRPH2 gene. This encodes peripherin 2, a photoreceptor glycoprotein.
Description of the Clinical case: Case Report of a 58-year-old man with near visual difficulty VA and metamorphopsia in both eyes BE, since the age of 45, with no family history, referred for suspicion of Stargardt macular degeneration. Distance VAin RE 20/20 and LE 20/30. Near VA 0.75D. Fundus examination revealed areas of macular atrophy in BE. The Visual Field shows central defects. OCT macular thickness and architecture mostly preserved, Retinal pigment epithelium RPE elevations, focal interruptions at the junction of external-internal segments of photoreceptors and external limiting membrane. Autofluorescence shows heterogeneous hyperfluorescent accumulations in the nuclear, external plexiform and internal nuclear layers. The genetic study was carried out with an ophthalmological panel of 1024 using Next Generation Sequencing. A pathogenic variant was identified in the PRPH2 gene: c.623G> A (p.Gly208Asp) and pathogenic variant in the OPN1MW gene associated with blue tone monochromia and color blindness. In addition, autosomal recessive inheritance variants in the AHI1 gene, associated with Joubert Syndrome and the MAK gene, associated with Retinitis Pigmentosa and in the OFD1 gene of uncertain clinical significance.
Discussion: Mutations in the PRPH2 gene, 6p21.1, are associated with AD retinal dystrophies, retinitis pigmentosa (RP), macular dystrophy, digenic RP with ROM1; Adult vitelliform macular dystrophy, cone-rod dystrophy and central areolar choroidal dystrophy.
Conclusion: According to the clinical picture, genetics and review, the patient has PRPH2 mutation that causes PD, AD and rules out Stargardt and Fundus flavimaculatus. Genetic studies allow confirming clinical diagnosis, prognosis and family counseling.

Referências Bibliográficas

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