NEWFOUNDLAND ROD-CONE DYSTROPHY

General Information (adopted from Orphanet):

Synonyms, Signs: NFRCD
Number of Symptoms 6
OrphanetNr:
OMIM Id: 607476
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:0000575) Scotoma 11868161 IBIS 11 / 7739
2
(HPO:0000505) Visual impairment 11868161 IBIS 297 / 7739
3
(HPO:0000662) Nyctalopia 11868161 IBIS 92 / 7739
4
(HPO:0000551) Abnormality of color vision 11868161 IBIS 20 / 7739
5
(HPO:0000556) Retinal dystrophy 11868161 IBIS 65 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Eichers et al. (2002) identified 6 Newfoundland pedigrees with a severe rod-cone dystrophy, which they designated NFRCD, that had an ophthalmoscopic appearance similar to that of retinitis punctata albescens (136880), but with age at onset typically in the ...
Molecular genetics OMIM Eichers et al. (2002) identified 2 splice-junction mutations (180090.0002 and 180090.0003) in the RLBP1 gene present in different combinations in the 6 NFRCD pedigrees as the likely cause of disease. In contrast to expected homozygosity due to a ...