Late-onset retinal degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
LORD
Autosomal dominant late-onset retinal degeneration
Number of Symptoms 13
OrphanetNr: 67042
OMIM Id: 605670
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000575) Scotoma 11 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000546) Retinal degeneration 61 / 7739
4
(HPO:0000572) Visual loss 272 / 7739
5
(HPO:0007830) Adult-onset night blindness 2 / 7739
6
(OMIM) Retinal pigment epithelium (RPE) thinning and photoreceptor loss correlate with thickness of sub-RPE deposits of lipid, esterified- and non-esterified cholesterol 1 / 7739
7
(OMIM) Punctate yellow-white sub-retinal pigment epithelium (RPE) lesions 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Retinopathy may resemble retinitis pigmentosa 1 / 7739
10
(OMIM) Subnormal focal ERG corresponding to punctate yellow-white sub-RPE lesions 1 / 7739
11
(OMIM) Abnormal dark-adaptation, midperipheral scotoma 1 / 7739
12
(OMIM) Night blindness beginning in the 6th decade 1 / 7739
13
(OMIM) Vision loss, severe, by the 8th decade 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Peripheral photoreceptor degenerations, such as retinitis pigmentosa (RP; 268000), cause symptoms early in the course of disease due to loss of rod function. Examination reveals defective vision in the mid-zone of the visual field and morphologic changes in ...
Molecular genetics OMIM Hayward et al. (2003) demonstrated a proposed founder mutation in the CTRP5 gene (608752.0001), which encodes a novel short-chain collagen, as the cause of late-onset retinal degeneration (LORD) in 7 of 14 affected families. The mutation, which changed ...