CONE-ROD DYSTROPHY 8

General Information (adopted from Orphanet):

Synonyms, Signs: CORD8
Number of Symptoms 18
OrphanetNr:
OMIM Id: 605549
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007994) Peripheral visual field loss occasional [HPO:skoehler] 13 / 7739
2
(HPO:0008043) Retinal arteriolar constriction 5 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0009926) Increased lacrimation 8 / 7739
5
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
6
(HPO:0000662) Nyctalopia occasional [HPO:skoehler] 92 / 7739
7
(HPO:0000608) Macular degeneration 36 / 7739
8
(HPO:0000587) Abnormality of the optic nerve 5 / 7739
9
(HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Marked macular degeneration 1 / 7739
12
(OMIM) Mild temporal optic nerve pallor 1 / 7739
13
(OMIM) Initial loss of central visual acuity and color vision 1 / 7739
14
(OMIM) Electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished 1 / 7739
15
(OMIM) Photophobia and epiphora in day light 1 / 7739
16
(OMIM) Mild peripheral retinal pigmentary changes 1 / 7739
17
(OMIM) Mild retinal arteriolar constriction 1 / 7739
18
(OMIM) Eventual loss of peripheral vision and night blindness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Khaliq et al. (2000) described a 2-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy. All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color discrimination. Funduscopy revealed marked ...
Molecular genetics OMIM By mutation screening in a 2-generation Pakistani family with CORD8, Khaliq et al. (2000) excluded 3 candidate genes, CRABP2 (180231), GNAT2 (139340), and KCNJ10 (602208), as the cause of CORD8. Using additional microsatellite markers in the Pakistani family ...