Choroideremia is a X-linked chorioretinal dystrophy that primarily affects males and is characterized by progressive degeneration of the retinal pigment epithelium (RPE), retina, and choroid. Symptoms typically begin in the first decade of life, when patients usually present with night blindness. As the disease progresses, peripheral vision loss occurs during the patient's teenage years. Further degeneration of the RPE and photoreceptors results in loss of visual acuity around the fifth decade of life.
The earliest observation on fundus examination in patients with choroideremia is widespread pigment clumping at the RPE, which is distinct from the peripheral bone-spicule pigmentation clumping that is seen in patients with retinitis pigmentosa.
When choroideremia is suspected based on symptoms, family history, and clinical evaluation, genetic testing is used to confirm the diagnosis.
Learn more about inherited retinal diseases.
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Cite this: Donny W. Suh, Raj K. Maturi. Fast Five Quiz: Diagnosis of Inherited Retinal Diseases - Medscape - Mar 31, 2023.