A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T. Exp Eye Res. 2021 Apr; 205:108497. Epub 2021 Feb 14.