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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
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).
 
Gene: C1QTNF5
Cytogenetic location: 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

Retinitis pigmentosa
MedGen UID:
504473
Concept ID:
CN000477
Finding
Hereditary degeneration and atrophy of the retina.
Visual loss
MedGen UID:
504502
Concept ID:
CN000537
Finding
Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that).
Scotoma
MedGen UID:
504504
Concept ID:
CN000540
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.
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.

Recent clinical studies

Etiology

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

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R
Invest Ophthalmol Vis Sci 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359. PMID: 25082885Free 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20554618Free PMC Article

Clinical prediction guides

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20554618Free PMC Article

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