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1.

Retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from GTR]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
2.

Retinitis

Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis). [from MeSH]

MedGen UID:
19765
Concept ID:
C0035333
Disease or Syndrome
3.

Autosomal recessive retinitis pigmentosa

MedGen UID:
573214
Concept ID:
C0339526
Congenital Abnormality
4.

Rod-cone dystrophy

Progressive rod photoreceptor dysfunction and loss that leads to night blindness and loss of peripheral visual field, either as the prevailing problem or occurring at least as severely as cone dysfunction. Occurs most often as retinitis pigmentosa (Hereditary degeneration and atrophy of the retina). [from HPO]

MedGen UID:
504473
Concept ID:
CN000477
Finding
5.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
6.

Retinopathy

An abnormal structure or function of the retina and its associated tissues. [from NCI]

MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
7.

Phenylalanine

An essential aromatic amino acid in humans (provided by food), Phenylalanine plays a key role in the biosynthesis of other amino acids and is important in the structure and function of many proteins and enzymes. Phenylalanine is converted to tyrosine, used in the biosynthesis of dopamine and norepinephrine neurotransmitters. The L-form of Phenylalanine is incorporated into proteins, while the D-form acts as a painkiller. Absorption of ultraviolet radiation by Phenylalanine is used to quantify protein amounts. (NCI04) [from NCI]

MedGen UID:
10708
Concept ID:
C0031453
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
9.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
10.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
11.

Thymus Epithelial Neoplasm

An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. [from NCI]

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
12.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
13.

Nonsense mutation

A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins. [from MeSH]

MedGen UID:
107464
Concept ID:
C0544885
Cell or Molecular Dysfunction
14.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
15.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
16.

Transient

Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. [from HPO]

MedGen UID:
64403
Concept ID:
C0205374
Temporal Concept
17.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
18.

Retinaldehyde

A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration. [from MeSH]

MedGen UID:
19764
Concept ID:
C0035331
Organic Chemical; Pharmacologic Substance; Vitamin
19.

Degenerative abnormality

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
20.

Retinal dystrophy

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. [from MeSH]

MedGen UID:
208903
Concept ID:
C0854723
Disease or Syndrome; Finding
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