Retinopathy
Retinopathy is a general term that refers to some form of non-inflammatory damage to the retina of the eye. Frequently, retinopathy is an ocular manifestation of systemic disease.[citation needed]
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Contents
Pathophysiology
Causes of retinopathy are varied:
- diabetes - diabetic retinopathy[citation needed]
- arterial hypertension - hypertensive retinopathy[citation needed]
- prematurity of the newborn - retinopathy of prematurity (ROP)[citation needed]
- sickle cell anemia[citation needed]
- genetic retinopathy[citation needed]
- ciliopathy[1]
- direct sunlight exposure - solar retinopathy[citation needed]
- medicinal products - drug-related retinopathy[citation needed]
- retinal vein or artery occlusion[citation needed]
Many types of retinopathy are progressive and may result in blindness or severe vision loss or impairment, particularly if the macula becomes affected.[citation needed]
Retinopathy is diagnosed by an optometrist or an ophthalmologist during ophthalmoscopy. Treatment depends on the cause of the disease.
Relation of genetic retinopathies to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genotypical root cause of the widely-varying, phenotypically-observed disorders. Thus, some genetically-caused retinopathies are the result of one or more underlying ciliopathies, an emerging new class of human genetic disorders. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, and Meckel-Gruber syndrome.[1].
The protein siah-I is the carrier of the enzyme glyceraldehyde 3-phosphate dehydrogenase, or GADPH. The enzyme moves from its cytosolic environment to the cell's nucleus to create energy, where cell death occurs. A high glucose environment induces this cell death typically for people with diabetes.
References
- ^ a b Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–48. doi:. PMID 16722803. http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610.
See also
- List of eye diseases and disorders
- List of systemic diseases with ocular manifestations
External links
- Eyetalk - Forum for Retinal Screeners
- The Importance of Being Cilia Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies in many organ systems of human physiology, including for transfer of retinal nutrients.
