Korean J Ophthalmol.  2020 Apr;34(2):170-172. 10.3341/kjo.2019.0080.

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient

Affiliations
  • 1Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
  • 2Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.


Figure

  • Fig. 1 Clinical features of a Korean congenital stationary night blindness patient caused by novel TRPM1 gene mutations. (A) Color fundus photography showed a normal posterior pole. (B) Optical coherence tomography showed a normal macular structure. (C) Standard electroretinogram showed decreased rod response and oscillator potential and normal cone response in both eyes. (D) Multifocal electroretinogram showed normal results in both eyes. (E) Goldmann perimetry showed normal visual fields in both eyes.


Reference

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