Retinopathy
Encyclopedia
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.
Many types of retinopathy are progressive and may result in blindness
or severe vision loss
or impairment, particularly if the macula
becomes affected.
Retinopathy is diagnosed by an optometrist
or an ophthalmologist
during ophthalmoscopy
. Treatment depends on the cause of the disease.
s, 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.
Retina
The vertebrate retina is a light-sensitive tissue lining the inner surface of the eye. The optics of the eye create an image of the visual world on the retina, which serves much the same function as the film in a camera. Light striking the retina initiates a cascade of chemical and electrical...
of the eye
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
. Frequently, retinopathy is an ocular manifestation of systemic disease.
Pathophysiology
Causes of retinopathy are varied:- diabetes - (causing diabetic retinopathyDiabetic retinopathyDiabetic retinopathy is retinopathy caused by complications of diabetes mellitus, which can eventually lead to blindness....
) - arterial hypertension - (causing hypertensive retinopathyHypertensive retinopathyHypertensive retinopathy is damage to the retina due to high blood pressure .-Pathophysiology:The retina is one of the "target organs" that are damaged by sustained hypertension....
) - prematurity of the newborn - (causing retinopathy of prematurityRetinopathy of prematurityRetinopathy of prematurity , previously known as retrolental fibroplasia , is an eye disease that affects prematurely-born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve...
) - sickle cell disease
- ciliopathyCiliopathyA ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.Although ciliopathies are usually considered to involve proteins that localize to the primary cilia or centrosomes, it is possible for ciliopathies to be associated...
- direct sunlight exposure - (causing solar retinopathySolar retinopathySolar retinopathy is damage to the eye's retina, particularly the macula, from prolonged exposure to solar radiation. It usually occurs due to staring at the sun or viewing a solar eclipse.-Pathophysiology:...
) - retinal vein or artery occlusion
- pheochromocytoma
- Hyperviscosity-related retinopathy as seen in disorders which cause paraproteinemia
Many types of retinopathy are progressive and may result in blindness
Blindness
Blindness is the condition of lacking visual perception due to physiological or neurological factors.Various scales have been developed to describe the extent of vision loss and define blindness...
or severe vision loss
Vision loss
Vision loss or visual loss is the absence of vision where it existed before, which can happen either acutely or chronically .-Ranges of vision loss:...
or impairment, particularly if the macula
Macula
The macula or macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina of the human eye. It has a diameter of around 5 mm and is often histologically defined as having two or more layers of ganglion cells...
becomes affected.
Retinopathy is diagnosed by an optometrist
Optometry
Optometry is a health care profession concerned with eyes and related structures, as well as vision, visual systems, and vision information processing in humans. Optometrists, or Doctors of Optometry, are state licensed medical professionals trained to prescribe and fit lenses to improve vision,...
or an ophthalmologist
Ophthalmology
Ophthalmology is the branch of medicine that deals with the anatomy, physiology and diseases of the eye. An ophthalmologist is a specialist in medical and surgical eye problems...
during ophthalmoscopy
Ophthalmoscopy
Ophthalmoscopy is a test that allows a health professional to see inside the fundus of the eye and other structures using an ophthalmoscope . It is done as part of an eye examination and may be done as part of a routine physical examination...
. 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 disorderGenetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
s, both genetic syndromes
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
and genetic diseases
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genotypical
Genotype
The genotype is the genetic makeup of a cell, an organism, or an individual usually with reference to a specific character under consideration...
root cause of the widely-varying, phenotypically
Phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
-observed disorders. Thus, some genetically-caused retinopathies are the result of one or more underlying ciliopathies
Ciliopathy
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.Although ciliopathies are usually considered to involve proteins that localize to the primary cilia or centrosomes, it is possible for ciliopathies to be associated...
, an emerging new class of human genetic disorders. Other known ciliopathies include primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia , also known as immotile ciliary syndrome or Kartagener Syndrome ', is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube, and also of the flagella of sperm in...
, Bardet-Biedl syndrome
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
, polycystic kidney
Polycystic kidney disease
Autosomal dominant polycystic kidney disease is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels...
and liver disease
Polycystic liver disease
Polycystic liver disease usually describes the presence of multiple cysts scattered throughout normal liver tissue, in association with polycystic kidney disease.-Pathophysiology:Associations with PRKCSH and SEC63 have been described....
, nephronophthisis
Nephronophthisis
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.It is a form of...
, Alstrom syndrome
Alstrom syndrome
Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in...
, and Meckel-Gruber syndrome.
See also
External links
- Eyetalk - Forum for Retinal Screeners
- The Importance of Being Cilia Accessible article at Howard Hughes Medical InstituteHoward Hughes Medical InstituteHoward Hughes Medical Institute is a United States non-profit medical research organization based in Chevy Chase, Maryland. It was founded by the American businessman Howard Hughes in 1953. It is one of the largest private funding organizations for biological and medical research in the United...
on the importance and extensive use of cilia and basal bodiesBasal bodyA basal body is an organelle formed from a centriole, and a short cylindrical array of microtubules. It is found at the base of a eukaryotic undulipodium and serves as a nucleation site for the growth of the axoneme microtubules...
in many organ systems of human physiology, including for transfer of retinal nutrients.