Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025:1467:127-133.
doi: 10.1007/978-3-031-72230-1_24.

Achromatopsia

Kristina J Hartung  1   2 , Stephen H Tsang  3 , Tarun Sharma  4 , Vlad Diaconita  5
Affiliations

Achromatopsia

Kristina J Hartung et al. Adv Exp Med Biol. 2025.

Abstract

Figure 24.1 illustrates the stages of achromatopsia on the basis of spectral domain optical coherence tomography (SD-OCT).

Keywords: Achromatopsia; Autosomal recessive; Rod monochromatism.

PubMed Disclaimer

References

Further Reading

    1. Fischer MD, Michalakis S, Wilhelm B, et al. Safety and vision outcomes of subretinal gene therapy targeting cone photoreceptors in achromatopsia: a nonrandomized controlled trial. JAMA Ophthalmol. 2020;138(6):643–651.
    1. Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018;39(2):149–157.
    1. Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, et al. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA Ophthalmol. 2014;132:437–45.
    1. Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, et al. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014;121:234–45.

MeSH terms

LinkOut - more resources