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Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1] As peripheral vision worsens, people may experience "tunnel vision". [1]
Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
This disorder was discovered by Michaelides et al., when they described 10 patients from 7 families across the world, these patients had retinal cone dystrophy, abnormally high rod responses, poor central vision, photophobia, mild nystagmus (in three patients), variable degrees of nearsightedness and astigmatism, progressive loss of visual acuity and color vision, reduced color discrimination ...
Leber congenital amaurosis (LCA) has been a major focus in the development of gene therapy for treatment of the disease, as it is the most severe form of congenital blindness and accounts for 5% of all inherited retinal diseases cases. [34] [35] Research on gene therapy is aimed at slowing retinal degeneration and improving visual function. [36]
Cone dystrophy; Fundus of a 45 year-old patient with cone rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole with atrophy of the retina, while the retina appears less damaged in periphery (upper part of the photograph).
Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with CSNB often have difficulty adapting to low light situations due to impaired photoreceptor transmission. These patients may also have reduced visual acuity, myopia, nystagmus, fundus abnormalities, and strabismus.
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. [1] Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. [2] Age-related macular degeneration is technically included under the umbrella term retinopathy but is often discussed as a separate entity.
Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. [1] This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading ...
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