Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2017

Ueno Shinji, Nakanishi Ayami, Sayo Akira, Kominami Taro, Ito Yasuki, Hayashi Takaaki, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

Abstract excerpt

PURPOSE: Patients with complete achromatopsia (ACHM) lack cone function, and patients with incomplete ACHM have relatively good visual acuity with residual color vision. The pathological mechanism(s) underlying incomplete ACHM has not been determined. The purpose of this study was to determine the pathophysiology of ACHM in two siblings: one with complete ACHM and the other with incomplete ACHM. METHODS: The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Color Vision
Share to Color Vision Defects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Fovea Centralis

Share to Fundus Oculi

Share to Retinal Cone Photoreceptor Cells

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 28197754
DOI: 10.1007/s10633-017-9577-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.PMID 28197754Read ↗

Achromatopsia: on the doorstep of a possible therapy.Semantic proximity Read ↗

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.Semantic proximity Read ↗

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Semantic proximity Read ↗

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Semantic proximity Read ↗

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Semantic proximity Read ↗

Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.Semantic proximity Read ↗

Photoreceptor Structure in GNAT2-Associated Achromatopsia.Semantic proximity Read ↗

[Achromatopsia].Semantic proximity Read ↗

GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.Semantic proximity Read ↗

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.Semantic proximity Read ↗

Photoreceptor structure and function in patients with congenital achromatopsia.Semantic proximity Read ↗

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.