Retinitis pigmentosa 40
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (34 available)
Genes See tests for all associated and related genes
Also known as: CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, RP40, rd1, PDE6B
Summary: phosphodiesterase 6B
Clinical features
Help- Abnormality of the eye
- Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram
- MedGen UID: 462461
- Concept ID: C3151111
- Finding: Finding
Abnormality of the eye
- Attenuation of retinal blood vessels
Attenuation of retinal blood vessels
- MedGen UID: 480605
- Concept ID: C3278975
- Finding: Finding
Abnormality of the eye
- Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina
- MedGen UID: 323029
- Concept ID: C1836926
- Finding: Finding
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormal light- and dark-adapted electroretinogram
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