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Late-onset retinal degeneration(LORD)

MedGen UID:
344198
Concept ID:
C1854065
Disease or Syndrome
Synonyms: LORD; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): C1QTNF5 (11q23.3)
OMIM®: 605670
Orphanet: ORPHA67042

Definition

Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). [from OMIM]

Clinical features

Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Retinitis pigmentosa
MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
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).
Scotoma
MedGen UID:
91021
Concept ID:
C0344233
Finding
Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision.
Abnormal vision
MedGen UID:
784038
Concept ID:
C3665386
Finding
Disturbance of eyesight.
Adult-onset night blindness
MedGen UID:
506132
Concept ID:
CN006873
Finding
Inability to see well at night or in poor light with onset in adulthood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLate-onset retinal degeneration
Follow this link to review classifications for Late-onset retinal degeneration in Orphanet.

Recent clinical studies

Etiology

Papastavrou VT, Bradshaw KR, Aye KH, Turney C, Browning AC
Can J Ophthalmol 2015 Apr;50(2):112-8. doi: 10.1016/j.jcjo.2014.12.001. PMID: 25863850
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457
Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG
Ophthalmology 2000 Dec;107(12):2256-66. PMID: 11097607

Diagnosis

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C
PLoS One 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. PMID: 26197217Free PMC Article
Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR
Acta Ophthalmol 2013 May;91(3):e191-5. Epub 2013 Jan 7 doi: 10.1111/aos.12010. PMID: 23289492
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E
Retina 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. PMID: 22277927
Subrayan V, Morris B, Armbrecht AM, Wright AF, Dhillon B
Am J Ophthalmol 2005 Dec;140(6):1127-9. doi: 10.1016/j.ajo.2005.06.023. PMID: 16376663
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Therapy

Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Prognosis

Sommer JR, Chavali VR, Simpson SG, Ayyagari R, Petters RM
Mol Vis 2012;18:92-102. Epub 2012 Jan 17 PMID: 22275800Free PMC Article
Chavali VR, Sommer JR, Petters RM, Ayyagari R
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5499-507. Epub 2010 Jun 16 doi: 10.1167/iovs.10-5543. PMID: 20554618Free PMC Article

Clinical prediction guides

Sahu B, Chavali VR, Alapati A, Suk J, Bartsch DU, Jablonski MM, Ayyagari R
Mol Vis 2015 Mar 13;21:273-84. PMID: 25814825Free PMC Article
Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR
Acta Ophthalmol 2013 May;91(3):e191-5. Epub 2013 Jan 7 doi: 10.1111/aos.12010. PMID: 23289492
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E
Retina 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. PMID: 22277927
Sommer JR, Chavali VR, Simpson SG, Ayyagari R, Petters RM
Mol Vis 2012;18:92-102. Epub 2012 Jan 17 PMID: 22275800Free PMC Article
Chavali VR, Sommer JR, Petters RM, Ayyagari R
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5499-507. Epub 2010 Jun 16 doi: 10.1167/iovs.10-5543. PMID: 20554618Free PMC Article

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