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Retinal telangiectasia and hypogammaglobulinemia

MedGen UID:
419680
•Concept ID:
C2930961
•
Disease or Syndrome
Synonyms: Frenkel Russe syndrome; Retinal Telangiectasia and Hypogammaglobulinemia; Retinal telangiectasia associated with hypogammaglobulinemia
 
Monarch Initiative: MONDO:0009980
OMIM®: 267900

Clinical features

From HPO
Reduced delayed hypersensitivity
MedGen UID:
334744
•Concept ID:
C1843386
•
Finding
Decreased ability to react to a delayed hypersensitivity skin test.
See: Feature record | Search on this feature
Decreased circulating IgG level
MedGen UID:
1720114
•Concept ID:
C5234937
•
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
See: Feature record | Search on this feature
Retinal telangiectasia
MedGen UID:
57598
•Concept ID:
C0154835
•
Disease or Syndrome
Dilatation of small blood vessels of the retina.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Retinal telangiectasis of the macula: a review and differential diagnosis.
Horn G, Rabb MF, Lewicky AO
Int Ophthalmol Clin 1981 Fall;21(3):139-55. doi: 10.1097/00004397-198102130-00012. PMID: 7026482

Recent clinical studies

Etiology

Cavernous hemangioma of the retina. Genetic and central nervous system involvement.
Pancurak J, Goldberg MF, Frenkel M, Crowell RM
Retina 1985 Fall-Winter;5(4):215-20. PMID: 3835615

Diagnosis

Cavernous hemangioma of the retina. Genetic and central nervous system involvement.
Pancurak J, Goldberg MF, Frenkel M, Crowell RM
Retina 1985 Fall-Winter;5(4):215-20. PMID: 3835615
Retinal telangiectasis of the macula: a review and differential diagnosis.
Horn G, Rabb MF, Lewicky AO
Int Ophthalmol Clin 1981 Fall;21(3):139-55. doi: 10.1097/00004397-198102130-00012. PMID: 7026482
Retinal telangiectasia associated with hypogammaglobulinemia.
Frenkel M, Russe HP
Am J Ophthalmol 1967 Feb;63(2):215-20. doi: 10.1016/0002-9394(67)91540-1. PMID: 6018656

Prognosis

Cavernous hemangioma of the retina. Genetic and central nervous system involvement.
Pancurak J, Goldberg MF, Frenkel M, Crowell RM
Retina 1985 Fall-Winter;5(4):215-20. PMID: 3835615

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