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Choroideremia

Choroideremia

Choroideremia 

Key Facts 
• Bilateral
• X-linked recessive
• Most common hereditary choroidal dystrophy
• Occurs in first and second decades
• Nyctalopia
Clinical Findings 
• Early in the disease course, retinal findings in the midperiphery can have a salt and pepper appearance or be similar to early retinitis pigmentosa with bone spicule pigmentation
• Choroidal atrophy starts at the equator and spreads both peripherally and centrally
• Atrophy of choroidal vessels
• Sparing of retinal vessels, with a normal caliber and appearance
• Optic nerve maintains normal appearance
• Macula is spared until late in the disease course as the disease progresses from the midperiphery to the peripheral retina and macula
Ancillary Tests 
• Peripheral visual field loss that becomes more prominent with disease progression
• Electroretinogram (ERG) shows abnormal rod and cone responses early in the disease course even when the clinical picture is mild
• Carriers have a normal ERG
• Prominent atrophy of choriocapillaris on fluorescein angiography
• Genetic counseling
Differential Diagnosis 
• Generalized choroidal dystrophy
• Retinitis pigmentosa (advanced)
• Gyrate atrophy
• Rubella
• Syphilis
• Thioridazine
Treatment 
• None available
Prognosis 
• Central visual acuity maintained usually until the fourth decade, when atrophy wipes out the fovea, leading to visual acuity <20/200 in most patients
• Female carriers typically maintain normal visual acuity given the X-linked recessive inheritance

Choroideremia

Choroideremia

Source: 

Ophthalmology Atlas(Photos of cases)

Choroideremia 

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Choroideremia  Key Facts  • Bilateral • X-linked recessive • Most common hereditary choroidal dystrophy • Occurs in first and second decades • Nyctalopia Clinical Findings  • Early in the disease course, retinal findings in the midperiphery can have a salt and pepper appearance or be similar to early retinitis pigmentosa with bone spicule pigmentation • …

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