Lab Med Online.  2018 Apr;8(2):66-70. 10.3343/lmo.2018.8.2.66.

Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa

Affiliations
  • 1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
  • 2Green Cross Genome, Yongin, Korea.
  • 3Department of Ophthalmology, Konkuk University School of Medicine, Konkuk University Medical Center, Seoul, Korea. hchung@kuh.ac.kr

Abstract

No abstract available.


MeSH Terms

Humans
Retinitis Pigmentosa*
Retinitis*

Figure

  • Figure 1 A 35-year-old woman with retinitis pigmentosa. Her best-corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. (A) Color fundus photographs of both eyes show mottling and granularity at the level of the retinal pigment epithelium (RPE), perivascular bone spicule-shaped pigment deposits in the peripheral retina, and attenuated retinal vessels. The picture on the left is the right eye, and that on the right is the left eye. (B) Full field electroretinography (ERG) reveals near absence of both photopic and scotopic responses of both eyes. The a-wave is derived from the cones and rods of the outer photoreceptor layers. The bwave is derived from the inner retina, predominantly Müller glia and ON-bipolar cells. P2 is the bipolar cell-derived component of the rod-isolated b-wave, and P3 is subtracted from the series of rod responses. The left graph shows the right eye, and the right graph shows the left eye. (C) Visual field testing demonstrates marked peripheral loss with a small residual central visual field in both eyes. The picture on the left is the left eye, and that on the right is the right eye. (D) The lack of signal on fundus autofluorescence imaging (FAF) correlates well with the areas of RPE atrophy. FAF demonstrated a perifoveal ring of increased autofluorescence within the macula with thread-like retinal vessels. The picture on the left is the right eye, and that on the right is the left eye. (E) Spectral domain optical coherence tomography (SD-OCT) shows decreased retinal thickness, particularly in the outer layer: decreased thickness of the outer nuclear layer and loss of the external limiting membrane and the junction between inner segments and outer segments (IS/OS) line (between yellow arrows). The upper picture is the right eye, and the lower is the left eye. (F) En face structural and angiographic imaging with SD-OCT (inset shows a scan plane taken just below the Bruch's membrane) reveals choriocapillaris in the peripheral region in greater detail compared to the central region, with intact outer retina due to increased light penetration in the atrophic peripheral macula. The upper picture is the right eye, and the lower is the left eye.

  • Figure 2 (A) IGV browser visualization of the exome sequencing results of partial genomic DNA sequence of the EYS gene of the patient shows two heterozygous variants. (Upper, c.6563T>C, Lower, c.9059T>C) (B) Validation of EYS variants by Sanger sequencing. The patient had two non-synonymous substitutions—c.[6563T>C];[9059T>C] (arrow)—in EYS. The patient's mother possessed c.6563T>C, but not c.9059T>C.


Cited by  1 articles

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim, Kwangsic Joo, Moon-Woo Seong, Man Jin Kim, Kyu Hyung Park, Sung Sup Park, Se Joon Woo
J Korean Med Sci. 2019;34(21):.    doi: 10.3346/jkms.2019.34.e161.


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