Posterior microphthalmos with retinal involvement related to < em > MFRP < /em > gene: a report of 10 Brazilian patients

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.PMID:38557281 | DOI:10.1080/13816810.2024.2322650

Source: Ophthalmic Genetics - April 1, 2024 Category: Opthalmology Authors: Rebeca A S Amaral Olivia A Zin Remo T Moraes Fernanda B O Porto Pedro C Carricondo Sergio L G Pimentel Bernardo P Kestelman Sung E S Watanabe Juliana M F Sallum Source Type: research