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Tapetoretinal degeneration

DA: 434

Developmental anomaly information

Definition: Degeneration of the pigmented layer of the retina. A hereditary disorder of the retina mainly affecting photoreceptors and retinal pigment epithelium; this may be a manifestation of Friedreich ataxia, Refsum disease, and abetalipoproteinemia.


  • Primary pigmentary degeneration of retina.

Developmental anomaly parent: (empty)

Topology: Human body > Head and neck > Head > Face > Eyes

System: Human body > Nervous system > Sensory organs > Eyes

Developmental anomaly category: Localized dysplasia

Case records

Humpath: 14045

OMIM: 272600

Observed in MDB cases

In malformative diseases :

Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Last modified: 2008-12-17 16:10:20 by farideh

Created: 2008-07-17 20:28:31 by jcfournet

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