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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]
Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM). [1] This disorder is associated with autosomal recessive mutations in the KCNV2 and PDE6H genes. [2] [3]
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.
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).
ROSAH syndrome is a genetic disease of innate immune activation. [1] ROSAH stands for retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and headache.The name emphasizes some, but not all, of the features that can be associated with the syndrome. [2]
Treatment with folinic acid can in some cases alleviate the associated symptoms and partially correct associated brain abnormalities, especially if started early in the course of illness. [6] The proposed cause of cerebral folate deficiency in the Kearns–Sayre syndrome is the failure of the mechanisms in the choroid plexus that are ...
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.
Hypotrichosis with juvenile macular dystrophy is an autosomal recessive hereditary disease. [2] It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein that is responsible for cellular adhesion in various tissues. [citation needed]