Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants

Azusa Kominami, Shinji Ueno, Taro Kominami, Ayami Nakanishi, Yasuki Ito, Kaoru Fujinami, Kazushige Tsunoda, Takaaki Hayashi, Sachiko Kikuchi, Shuhei Kameya, Takeshi Iwata, Hiroko Terasaki

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


Background: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. Materials and methods: The medical chart of one case diagnosed with cone dystrophy was reviewed. Results: The patient was a 20-year-old Japanese man whose chief complaint was a progressive decrease in his central vision. His decimal best-corrected visual acuity was 0.2 for the right and 0.3 for the left. Fundus examinations showed no abnormalities. The photopic electroretinograms were nonrecordable, but the scotopic electroretinograms were within normal limits. Optical coherence tomography detected a blurry line in the region of the external limiting membrane and ellipsoid zone. Adaptive optics images showed sparsely distributed cone cells around the fovea. The patient was initially diagnosed with incomplete achromatopsia. Whole-exome sequence with targeted analysis identified new compound heterozygous mutations of c.G1355A (p R452Q) and c.C987A (pY329X) in the POC1B gene. The patient was then diagnosed with cone dystrophy. Conclusions: The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases.

Original languageEnglish
Pages (from-to)255-262
Number of pages8
JournalOphthalmic Genetics
Issue number2
Publication statusPublished - 04-03-2018
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


Dive into the research topics of 'Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants'. Together they form a unique fingerprint.

Cite this