OSLI Retina

February 2021

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110 © Ophthalmic Surgery, Lasers & Imaging Retina ■ I M A G E S I N O P H T H A L M O L O G Y ■ MFRP-Related Nanophthalmos-Retinitis Pigmentosa- Foveoschisis-Optic Disc Drusen Syndrome João Pedro Marques, MD, MSc, FEBO From Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal, and University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal. Originally submitted October 19, 2020. Revision received November 24, 2020. Accepted for publication December 2, 2020. Dr. Marques reports no relevant financial disclosures. Address correspondence to João Pedro Marques, MD, MSc, FEBO, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal; email: marquesjoaopedro@gmail.com. doi: 10.3928/23258160-20210201-09 Figure 1. Fundus autofluorescence in membrane frizzled-related protein (MFRP)-related retinal dystrophy. Multiple bilateral hyperauto- fluorescent globular structures in the optic nerve head represent optic disc drusen, whereas numerous hypoautofluorescent dots outside the vascular arcades represent patches of outer retinal atrophy. First described in 2006, 1 nanophthalmos-retinitis pig- mentosa-foveoschisis-optic disc drusen syndrome is an extremely rare autosomal recessive disorder caused by biallelic variants in the membrane frizzled-related pro- tein (MFRP) gene. Located on chromosome 11q23 and expressed mainly in the retinal pigment epithelium and ciliary body, the MFRP gene is responsible for control- ling eye growth and posterior segment development. 2,3 This 27-year-old male patient presented with high hy- peropia, nanophthalmos, and complaints of nyctalopia from an early age. The fundus was remarkable for the presence of bilateral optic disc drusen, patches of outer retinal atrophy, and a few foci of pigment clumping in the midperiphery. These features can be clearly observed on fundus autofluorescence (Figure 1). Optical coher- ence tomography showed outer retinal layer schisis with absence of the foveal pit. Genetic testing revealed a likely pathogenic variant in the MFRP gene in homozygosity, thus establishing a final diagnosis. REFERENCES 1. Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Hor- ta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006;12:1483-1489. PMID:17167404 2. Godinho G, Madeira C, Grangeia A, et al. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. Ophthalmic Genet. 2020;41(5):474-479. https://doi. org/10.1080/13816810.2020.1795888 PMID:32703043 3. Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa com- plex. Mol Vis. 2009;15:1794-1798. PMID:19753314 [Ophthalmic Surg Lasers Imaging Retina. 2021;52:110.]

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