Glossary for Retinitis Pigmentosa

• Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.
• Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
• Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
• Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
• Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
• Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
• Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
• Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
• Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
• Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
• Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
• Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
• Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
• Bessman-Baldwin syndrome: A rare disorder characterized by degeneration of the brain and the macula of the eye.
• Blindness: The inability to see out of the eyes
• 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.
• CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
• Cataracts: Cloudy areas on the eye's cornea interfering with vision.
• Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
• Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
• Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
• 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.
• Dwarfism -- deafness -- retinitis pigmentosa: A very rare disorder characterized by deafness, dwarfism and an eye disorder.
• Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
• Furukawa-Takagi-Nakao syndrome: A very rare syndrome characterized by muscle weakness and wasting, ataxia, diabetes and eye problems.
• Hallervorden-Spatz disease: Nerve disorder causing movement problems.
• Head Conditions: Conditions that affect the head
• Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Homozygous hypobetalipoproteinemia: Inherited low blood betalipoprotein level. The type and severity of symptoms is determined by whether or not there are some betalipoproteins in the body.
• Hypobetalipoproteinaemia -- ataxia -- hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
• Hypobetalipoproteinemia: A medical term for low levels of apolipoprotein (LDL cholesterol) in the blood.
• Hypobetalipoproteinemia, familial: An genetic lipid metabolism disorder characterized by low betalipoprotein levels in blood. The disorder tends to run in families (familial). The severity of the condition is determined by whether the genetic defect is inherited from one or both parents.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
• Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
• Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
• MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
• Neuropathy -- ataxia -- retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Night blindness: Poor vision in darkness or dim light
• Oculo tricho dysplasia: A very rare syndrome characterized mainly by eye, tooth and hair abnormalities
• Optic atrophy: Dysfunction of the optic nerve which results in impaired vision. The disorder may be congenital or acquired. The rate and degree of atrophy is greatly variable depending on the cause.
• Optic nerve disorder: Any condition which impairs the function of the optic nerve. Examples of such conditions includes glaucoma, optic nerve inflammation and impaired blood supply to the optic nerve.
• Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Peripheral vision loss: Reduced or lost peripheral vision
• Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract: A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly.
• Pyruvate carboxylase deficiency:
• RHYNS syndrome: A rare syndrome characterized by eye, kidney and skeletal abnormalities as well as hypopituitarism.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Refsum disease, infantile form: A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.
• Retina Conditions: Any condition that affects the retina of the eye
• Retina symptoms: Symptoms affecting the retina in the back of the eye
• Retinis pigmentosa -- deafness -- hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
• Retinitis pigmentosa -- mental retardation -- deafness: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Retinitis pigmentosa 27: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 27 is linked to a genetic defect on chromosome 14q11.1-q11.2.
• Retinitis pigmentosa 29: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 29 is linked to a genetic defect on chromosome 4q32-q34.
• Retinitis pigmentosa deafness hypogenitalism: A rare syndrome characterized by slow-progressing sensorineural deafness, underdeveloped genitals and an eye defect.
• Retinitis pigmentosa-deafness syndrome: A condition characterized by the association of an eye disease and deafness.
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa: A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
• Schizophrenia -- mental retardation -- deafness -- retinitis: A very rare syndrome characterized mainly by mental retardation, deafness, retinitis and schizophrenia.
• Schroer-Hammer-Mauldin syndrome: A rare inherited disorder characterized by an eye abnormality, incoordination and short stature.
• Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
• Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
• Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
• Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
• Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
• Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
• Short stature -- pituitary and cerebellar defects -- small sella turcica: A rare syndrome characterized mainly by short stature and brain and pituitary gland defects.
• Shwachman-Diamond Syndrome:
• Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Spastic quadriplegia -- retinitis pigmentosa -- mental retardation: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs and arms, eye problems and mental retardation. The spastic paraplegia is not progressive.
• Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.
• Tunnel vision: Central vision with loss of peripheral vision
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Usher Syndrome Type 3: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate.
• Usher syndrome, type IIIA: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate. The defect occurs on chromosome 5q14.
• Usher syndrome, type IIIB: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate. The defect occurs on chromosome 20q.
• Vision loss: Impaired vision or loss of vision

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