MACULAR DEGENERATION, X-LINKED ATROPHIC

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 300834
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000608) Macular degeneration 12160730 IBIS 36 / 7739
2
 (HPO:0007663) Reduced visual acuity 12160730 IBIS 100 / 7739
3
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ayyagari et al. (2002) described a family in which 10 males had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal ...
Molecular genetics OMIM In affected members of a family segregating X-linked recessive atrophic macular degeneration, Ayyagari et al. (2002) identified a splice site mutation in the RPGR gene (312610.0017).