Achromatopsia

Achromatopsia is an inherited retinal disease caused by mutations in genes involved in cone photoreceptor function. Cone photoreceptors are the cells of the retina that are responsible for color vision and detailed central vision. Achromatopsia can vary in severity, depending on the quantity and type of remaining functioning cone cells. Visual acuity usually varies from 20/80-20/200, but primarily remains stable.²  

• Significant photophobia (light sensitivity) 
• Decreased color vision¹ 
• Decreased visual acuity 
• Nystagmus (involuntary eye movements) 

• Central scotoma (loss of central vision)²

Achromatopsia is passed down through an autosomal recessive manner, meaning both parents carry one copy of the mutated gene.¹ 

Multifocal electroretinography (mfERG): test of retinal function to determine if loss of cone photoreceptor capabilities is present.² 

Genetic testing: available for mutations that cause Achromatopsia.²

Ophthalmic examination: an eye care practitioner can note characteristics of Achromatopsia by viewing the retina and optic nerve in the back of the eye. 

Ocular coherence tomography (OCT): scan through the central area of the retina to determine if photoreceptor loss or macular retinal thinning has occurred.²  

Visual field examination: central and side vision test to map out areas of vision loss.² 

There is no current treatment for Achromatopsia. Studies in gene therapy for some gene mutations that cause Achromatopsia are undergoing.³

Patients with Achromatopsia should have eye examinations as recommended by their eye care provider, as correcting refractive errors (myopia, hyperopia, astigmatism) can improve vision slightly. Low vision evaluations should also be considered, as visual aid devices, like large print books and magnifiers can assist with visual function. Darkly tinted lenses on glasses, particularly red in color, can assist with light sensitivity associated with RP. These tinted glasses should have shields and wrap around the face to prevent light sensitivity from stray light. The Colorino and Eyeborg devices both assist with color vision, as patients with RP experience color deficiencies.³ 

1. Foundation Fighting Blindness. (2022). What is Achromatopsia? Retrieved January 5, 2022, from https://www.fightingblindness.org/diseases/achromatopsia 
2. Remmer, M. H., Rastogi, N., Ranka, M. P., & Ceisler, E. J. (2015, July). Achromatopsia: a review. Retrieved January 5, 2022, from https://journals.lww.com/co-ophthalmology/fulltext/2015/09000/achromatopsia__a_review.2.aspx 
3. Achromatopsia – American Association for Pediatric Ophthalmology and Strabismus. (2019, November 25). Higher Logic, LLC. Retrieved January 5, 2022, from https://aapos.org/glossary/achromatopsia