Helicoid peripapillary chorioretinal degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: PERIPAPILLARY CHORIORETINAL DEGENERATION, ICELANDIC TYPE
HELICOIDAL PERIPAPILLARY CHORIORETINAL DEGENERATION
AA
SCRA
HPCD
atrophia areata
Sveinsson chorioretinal atrophy
Number of Symptoms 6
OrphanetNr: 86813
OMIM Id: 108985
ICD-10: H31.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000483) Astigmatism 67 / 7739
2
 (HPO:0007950) Peripapillary chorioretinal atrophy 3 / 7739
3
 (HPO:0000545) Myopia 286 / 7739
4
 (OMIM) Combined myopia and astigmatism 1 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sveinsson (1939) first described this disorder in an Icelandic mother and son. The fundus showed peripapillary chorioretinal atrophy with wide tongue-shaped extensions to the periphery having no connection with the retinal vessels. He referred to the condition as ...
Molecular genetics OMIM Using crossover analysis, Fossdal et al. (2004) identified a 593-kb segment shared by all atrophia areata patients within the large Icelandic pedigree studied by them. Sequencing exons of the only gene in this interval, the transcriptional enhancer TEAD1 ...