Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with achromatopsia, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Standard clinical ophthalmologic evaluation and testing with attention to visual acuity and use of spectacles and/or contact lenses to achieve the best possible corrected visual acuity
Color vision evaluation
Consultation with a clinical geneticist and/or genetic counselor as treatment could be possible in the near future (See .)
Treatment of Manifestations
Dark or special filter glasses or red-tinted contact lenses reduce photophobia and may improve visual acuity. Low vision aids include high-powered magnifiers for reading as well as digital/electronic devices. Children with achromatopsia should have preferential seating in the classroom (i.e., in the front to benefit maximally from magnifying devices and away from windows to reduce the effects of glare on vision). Extensive information about learning and occupational aids is available from the Achromatopsia Network (www.achromat.info).
Surveillance
Ophthalmologic examination is indicated:
Every six to 12 months in children to monitor changes in refraction in order to achieve the best possible corrected visual acuity;
Every two to three years in adults.
Agents/Circumstances to Avoid
To avoid additional light damage to the retina, it is recommended that individuals wear approp...
Source: GeneReviews — "Achromatopsia"
