[Ophthalmist]

CHOROIDEREMIA
Choroideremia is a bilateral progressive dystrophy of the retinal pigment epithelium (RPE), photoreceptors and choroid that results in progressive loss of peripheral vision with sparing of central vision until late in the disease.15 Initially described by Mauthner in 1872,16 the disease was thought to be a result of a congenital absence of the choroid. However, it is now apparent that absence of the choroid is a late feature in the disease process and is not congenital. The prevalence varies with the population studied but has been estimated to be 1:100,000.10,17
Most affected males with choroideremia present with symptoms of nyctalopia in the first decade of life.18 Progressive peripheral visual loss ensues. By the third to fourth decade, there is severe constriction of the visual field with anular scotomas or tunnel vision on visual field testing.19,20 Central visual acuity is typically reduced to 20/200 or worse by age 50. Progressive myopia and disorders of color vision have also been reported. Choroideremia is generally isolated to the ocular structures, but sensorineuronal hearing loss has been reported in some affected individuals.17 Choroideremia displays wide variability in disease severity and rate of progression.
Clinically, funduscopic changes are initially apparent in the mid-peripheral fundus, with progression toward the macula and the far-periphery (Fig. 4A). These changes include RPE stippling and atrophy, with focal loss of choriocapillaris and prominence of the underlying choroidal vessels surrounding the optic disc (Fig. 4B). Early in the disease process, areas of skip lesions are clearly evident on fluorescein angiography. Additionally, scattered intraretinal pigment clumps at the equator and midperiphery may be noted. At this early stage, abnormal light and dark adaptation can be detected, and the electroretinogram (ERG) reveals reduced rod responses. Patches of chorioretinal degeneration occur near the equator and eventually advance, with loss of the normal choroidal pattern and diffuse RPE and choroidal atrophy except in the macular region. However, no intraretinal pigment migration occurs, as in retinitis pigmentosa.21 The macular area is the last to be affected and is usually the only area of normal tissue left in the late stages of the disease. In the final stages of choroideremia, the scotopic ERG is unrecordable.16,18

Цитата из Duane's Ophthalmology. Далее по [Ссылки доступны только зарегистрированным пользователям ].

Всё-таки, давайте жить дружно с остальным миром. Никталопия, так никталопия.