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Article

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.

Japanese journal of ophthalmology - 1 Jan 2017

Ueno Shinji, Nakanishi Ayami, Kominami Taro, Ito Yasuki, Hayashi Takaaki, Yoshitake Kazutoshi, Kawamura Yuichi, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

Abstract excerpt

PURPOSE: The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. The purpose of...

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Source

Identifiers

PMID: 27718025
DOI: 10.1007/s10384-016-0484-7

Genes

GNAT2
CNGA3
CNGB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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