Article
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Scientific reports - 17 Nov 2020
Prasov Lev, Guan Bin, Ullah Ehsan, Archer Steven M, Ayres Bernadete M, Besirli Cagri G, Wiinikka-Buesser Laurel, Comer Grant M, Del Monte Monte A, Elner Susan G, Garnai Sarah J, Huryn Laryssa A, Johnson Kayla, Kamat Shivani S, Lieu Philip, Mian Shahzad I, Rygiel Christine A, Serpen Jasmine Y, Pawar Hemant S, Brooks Brian P, Moroi Sayoko E, Richards Julia E, Hufnagel Robert B
Abstract excerpt
Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated. We collected probands and families (n = 56)...
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