Retinitis differential diagnosis

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Differential Diagnosis

Disease	Definition
Usher syndrome	Usher syndrome is a relatively rare genetic disorder that is associated with a mutation in any one of 10 genes. . Usher syndrome is incurable at present; however, using gene therapy to replace the missing gene, researchers have succeeded in reversing one form of the disease in knockout mice. Vision loss is commonly associated with retinitis pigmentosa (rp), a degeneration of the retinal cells. The rod cells of the retina are affected first, leading to early night blindness and the gradual loss of peripheral vision. There is often early degeneration of the cone cells in the macula, leading to a loss of central acuity. In some cases, the foveal vision is spared, leading to "doughnut vision"; central and peripheral vision are intact, but there is an annulus around the central region in which vision is impaired.
Leber congenital amaurosis (LCA)	Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. LCA is typically characterized by nystagmus, sluggish or absent pupillary responses, and severe vision loss or blindness.
Bardet-Biedl syndrome	The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, renal dysplasia and renal failure in some cases. Results largely from a defect in basal body of ciliated cells. The gene products encoded by these BBS genes (BBS1 to BBS8, called BBS proteins, are located in the basal body and cilia of the cell. Differentiated by the presence of spasticity
Cone and cone-rod dystrophy	A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk and have progressive difficulty with daytime vision. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.
Choroideremia	Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Choroideremia is caused by the deletion of the Rab escort protein 1 (REP1). Choroideremia has been associated with night blindness in youth. As the disease progresses, a CHM sufferer loses their peripheral vision and depth perception, eventually losing all sight by middle age.