These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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]
5. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H. Optom Vis Sci; 2012 May 04; 89(5):684-91. PubMed ID: 22504327 [Abstract] [Full Text] [Related]
7. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP. Am J Ophthalmol; 2008 Jun 04; 145(6):1099-106. PubMed ID: 18400204 [Abstract] [Full Text] [Related]
16. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA. Mol Vis; 2009 Sep 05; 15():1794-8. PubMed ID: 19753314 [Abstract] [Full Text] [Related]
18. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ. Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369 [Abstract] [Full Text] [Related]
19. Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Ophthalmology; 2011 May 12; 118(5):888-94. PubMed ID: 21211845 [Abstract] [Full Text] [Related]