RESUMEN
BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light. All were hyperopes (+4,25 to + 17,50) with a short axial length (14,4 mm to 18 mm). Common posterior segment features, though not present in all, were optic disc drusen (5/10), foveoschisis (5/10) and retinal pigmentary changes (8/10). Isolated patients presented with macular atrophy, serous retinal detachment, and chorioretinal folds. The most common variant in MFRP found in our patients was a deletion in exon 5 (c.498delC; p.Asn267Thrfs *25), present in all except 2 patients. Other variants found were c.523C>T (p.Gln175*), c.298delG (p.Ala100Argfs *37), c.666del (p.Thr223Argfs *83) and the novel variant c.257C>A (p.Ala86Asp). CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.
Asunto(s)
Microftalmía , Humanos , Microftalmía/genética , Microftalmía/patología , Femenino , Masculino , Niño , Adulto , Adolescente , Persona de Mediana Edad , Brasil , Anciano , Adulto Joven , Proteínas de la Membrana/genética , Fenotipo , Agudeza Visual/fisiología , Oxidorreductasas de Alcohol/genética , Enfermedades de la Retina/genética , Enfermedades de la Retina/diagnóstico , Mutación , GenotipoRESUMEN
PURPOSE: To describe a case of Acute Zika infection with ocular involvementMethods: Review of clinical recordsResults: Patient presented with sudden blurred vision in both eyes during an acute episode of zika virus infection. Ophthalmological examination revealed clinical picture of multifocal choroiditis in both eyes. Lesions improved and visual acuities returned to normal level without any treatment.Conclusion: Ocular changes in acute Zika virus infection is a rare condition. Patiens may present spontaneous recovery.