Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Diseases » Retinal degeneration » Glossary
 

Glossary for Retinal degeneration

  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
  • Alstrom disease: A rage genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alstrom syndrome: A rare genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alström Syndrome: A progressive condition which is characterized by deafness, obesity and visual problems in childhood that may lead to diabetes and kidney failure in adulthood
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Chorioretinopathy dominant form -- microcephaly: A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition.
  • Choroideremia -- hypopituitarism: A rare inherited disorder characterized by eye disease and hypopituitarism.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
  • Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Head Conditions: Conditions that affect the head
  • Hypotrichosis, syndactyly and retinal degeneration: A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable.
  • Impaired vision: Reduced or degraded vision.
  • Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Loss of vision: The loss of ones ability to see
  • Mucolipidosis IV: A condition which is characterized by the accumulation of both glycoaminoglycans and lipids in tissues
  • Mucolipidosis type 4: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (ganglioside and mucopolysaccharide) in body tissues due to the deficiency of an enzyme needed to process it.
  • Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
  • Neonatal ALD: Progressive form of ALD in newborns.
  • Night blindness: Poor vision in darkness or dim light
  • Olivopontocerebellar atrophy type 3: A disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as blindness, tremor, speech problems and ataxia.
  • Osteopetrosis, autosomal recessive 4: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Peripheral vision loss: Reduced or lost peripheral vision
  • Pigmentary retinopathy: An inherited eye disorder involving degeneration of the retina.
  • Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Retinoschisis, X-linked: A rare congenital eye disorder inherited in a X-linked manner. It is characterized by the separation of the retina into two layers which results in progressive vision loss. Though close examination may show signs of the condition, symptoms such as noticeable vision impairment generally don't become evident until middle age.
  • Retinoschisis1, X-linked, Juvenile: A rare congenital eye disorder inherited in a X-linked manner. It is characterized by the separation of the retina into two layers which results in progressive vision loss. Though close examination may show signs of the condition, symptoms such as noticeable vision impairment generally don't become evident until middle age.
  • Santavuori Disease:
  • Snowflake vitreoretinal degeneration: An inherited eye disease involving degeneration of the retina and characterized by light-colored spots on the retina. It is a slow-progressing condition.
  • Spastic paraplegia 15, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles as well as vision problems.
  • Tunnel vision: Central vision with loss of peripheral vision
  • Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise