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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.
People must meet the following requirements to be eligible for Luxturna gene therapy: biallelic disease-causing RPE65 mutation, older than one year in age, no surgical contraindications, detectable photoreceptors and RPE, and measurable vision. [38] Luxturna has now become the standard of care for the treatment of inherited retinal dystrophy. [38]
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 ] The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene , an innate immune sensor ...
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]
Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
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.
Children with yellow-eye in photographs are typically advised to immediately seek evaluation from an optometrist or ophthalmologist, who will assess and diagnose the condition and refer to a vitreo-retinal specialist. A young child with the yellow eye of Coats' disease - still in an early stage. Only visible with a flash camera.
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