Management Guidelines
No clinical practice guidelines for choroideremia have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with choroideremia (CHM), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Ophthalmologic examination including best corrected visual acuity (BCVA), funduscopic examination, and visual field testing for a baseline
Spectral domain optical coherence tomography (SD-OCT) to evaluate and monitor the change of macular structure over time, especially ellipsoid zone (EZ), outer retinal tubulations, and chorioretinal atrophy. It is also helpful in identifying any comorbid maculopathy.
Referral to a low vision specialist or vision rehabilitation clinic may be particularly helpful as central vision declines and/or visual field becomes limited.
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of choroideremia in order to facilitate medical and personal decision making
Treatment of Manifestations
Retinal detachment, which may occur more commonly in individuals with high myopia (as seen in CHM), is treated by conventional surgical techniques by an ophthalmologist. Cataract surgery may be required for individuals with a posterior subcapsular cataract.
