RETINAL CONE DYSTROPHY 3A

General Information (adopted from Orphanet):

Synonyms, Signs: CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED
ACHM6, INCLUDED
RCD3A
Number of Symptoms 16
OrphanetNr:
OMIM Id: 610024
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0007663) Reduced visual acuity 100 / 7739
2
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
3
(HPO:0008020) Progressive cone degeneration 4 / 7739
4
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(HPO:0000662) Nyctalopia 92 / 7739
7
(HPO:0007641) Dyschromatopsia 19 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Severely reduced cone and absent 30Hz flicker responses on cone electroretinogram (in some patients) 1 / 7739
10
(OMIM) Central macular atrophy 2 / 7739
11
(OMIM) Macular granularity (in some patients) 1 / 7739
12
(OMIM) Cone degeneration, stationary (in some patients) 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Supernormal and delayed scotopic rod electroretinogram (in some patients) 1 / 7739
15
(OMIM) Central scotoma on Goldmann visual field (in some patients) 1 / 7739
16
(OMIM) Normal scotopic responses on rod electroretinogram (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Cone Dystrophy With Supernormal Rod Electroretinogram

Cone dystrophy with supernormal rod electroretinogram, also known as retinal cone dystrophy-3 (RCD3), is an autosomal recessive disorder that causes lifelong visual loss combined with a supernormal ERG response ...

Molecular genetics OMIM - Cone Dystrophy With Supernormal Rod Electroretinogram

In a brother and sister with retinal cone dystrophy-3, Piri et al. (2005) identified a G-to-C transversion in the 5-prime untranslated region of the PDE6H gene (601190.0001). Although the ...