A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Godinho, G (Author) Other; Madeira, C (Author) Other; Grangeia, A (Author) Other; Neves Cardoso, P (Author) Other; Santos Silva, R (Author) FMUP; Brandao, E (Author) Other; Ângela Carneiro (Author) FMUP; Falcao Reis, F (Author) Other; Estrela Silva, S (Author) Other

Journal

Title: Ophthalmic Genetics

Vol. 41

Pages: 474-479

ISSN: 1381-6810

Publisher: Taylor & Francis

Indexing

ISI Web of Knowledge - 6 Citations

Scopus - 7 Citations

Other information

Authenticus ID: P-00S-H52

DOI: 10.1080/13816810.2020.1795888

Abstract (EN): Background To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. Materials and methods Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic visual field (VF), and optical coherence tomography (OCT). Molecular analysis was performed by Sanger sequencing of the entire coding region of theMFRPgene. Results All members presented nyctalopia, decreased visual acuity, and constriction of the VF, as well as bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy and ERG results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer, FH, as well as retinal and choroidal folds. We identified a homozygous mutation in intron 9 of the membrane frizzled-related protein (MFRP) gene (c.1124 + 1 G > A). Conclusions Our study shows a family with PM and RP due to a mutation in the MFRP gene. The relationship has previously been proven, but this specific mutation has never been described. These gene mutations show wide phenotypic variability, being evident in the presence of foveoschisis, retinal and choroidal folds, and FH, other than PM and RP.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6