In simple words: Choroideremia is an inherited eye disease mostly affecting males. It causes gradual loss of vision, ultimately leading to complete blindness.

Choroideremia is a rare, X-linked recessive form of hereditary retinal degeneration that primarily affects males, leading to progressive vision loss and eventually blindness. It is characterized by the degeneration of the choroid, retinal pigment epithelium (RPE), and photoreceptors.

Example 1: A male patient presents with progressive night blindness and peripheral vision loss. Upon examination, the ophthalmologist observes pigmentary changes and atrophy in the choroid and retina. Genetic testing confirms the diagnosis of choroideremia., A young boy experiences difficulty seeing in dim light and navigating in the dark. His family history reveals affected male relatives with vision loss. An ophthalmologic evaluation reveals early signs of choroideremia., A male patient in his 40s reports a gradual decline in central vision and increased difficulty reading. Ophthalmic imaging reveals extensive choroidal atrophy and retinal degeneration, consistent with advanced choroideremia.

Detailed ophthalmologic examination findings, including visual acuity testing, visual field assessment, and fundus photography. Genetic testing is crucial for confirming the diagnosis and differentiating it from other retinal dystrophies.