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2. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. Mol Vis; 2006 Dec 04; 12():1483-9. PubMed ID: 17167404 [Abstract] [Full Text] [Related]
3. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC. Am J Ophthalmol; 2008 Aug 04; 146(2):323-328. PubMed ID: 18554571 [Abstract] [Full Text] [Related]
4. NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY. Kovacs KD, Van Tassel SH, Gupta MP. Retin Cases Brief Rep; 2023 May 01; 17(3):269-272. PubMed ID: 34293777 [Abstract] [Full Text] [Related]
5. Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome. Zacharias LC, Susanna R, Sundin O, Finzi S, Susanna BN, Takahashi WY. Retin Cases Brief Rep; 2015 May 01; 9(1):61-3. PubMed ID: 25383852 [Abstract] [Full Text] [Related]
6. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI. Mol Vis; 2012 May 01; 18():2447-53. PubMed ID: 23077403 [Abstract] [Full Text] [Related]
7. MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone. Vanden Heuvel C, Aldred B, Boulter T, Sullivan R, Ver Hoeve J, Schmitt M. Ophthalmic Genet; 2023 Feb 01; 44(1):83-88. PubMed ID: 35880649 [Abstract] [Full Text] [Related]
12. A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit. Garg P, Kumar B, Dubey S. BMC Ophthalmol; 2023 Sep 26; 23(1):391. PubMed ID: 37752465 [Abstract] [Full Text] [Related]
13. Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E. Ophthalmic Genet; 2019 Jun 26; 40(3):288-292. PubMed ID: 31264930 [Abstract] [Full Text] [Related]
18. Frequency of photographically apparent optic disc and parapapillary nerve fiber layer drusen in Usher syndrome. Edwards A, Grover S, Fishman GA. Retina; 1996 Jun 26; 16(5):388-92. PubMed ID: 8912964 [Abstract] [Full Text] [Related]
19. Optic disc drusen prevalence in the retinitis pigmentosa population. Russell N, Fraser C, Grigg J. Eye (Lond); 2022 Nov 26; 36(11):2213. PubMed ID: 35217826 [No Abstract] [Full Text] [Related]