Leber congenital amaurosis 9
- Synonyms
- Amaurosis congenita of Leber, type 9; LCA 9; LCA9 Leber Congenital Amaurosis; NMNAT1-Related Leber Congenital Amaurosis
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Clinical features
Help- 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
- Coloboma of macula
Coloboma of macula
- MedGen UID: 342305
- Concept ID: C1852767
- Finding: Congenital Abnormality
Abnormality of the eye
- Color vision defect
Color vision defect
- MedGen UID: 115964
- Concept ID: C0234629
- Finding: Finding
Abnormality of the eye
- Horizontal nystagmus
Horizontal nystagmus
- MedGen UID: 124399
- Concept ID: C0271385
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Keratoconus
Keratoconus
- MedGen UID: 44015
- Concept ID: C0022578
- Finding: Disease or Syndrome
Abnormality of the eye
- Macular atrophy
Macular atrophy
- MedGen UID: 140841
- Concept ID: C0423421
- Finding: Finding
Abnormality of the eye
- Macular hypopigmentation
Macular hypopigmentation
- MedGen UID: 870316
- Concept ID: C4024759
- Finding: Finding
Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Retinal dots
Retinal dots
- MedGen UID: 1671040
- Concept ID: C4732809
- Finding: Finding
Abnormality of the eye
- Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
- MedGen UID: 347513
- Concept ID: C1857644
- Finding: Finding
Abnormality of the eye
- Ultra-low vision
Ultra-low vision
- MedGen UID: 1685679
- Concept ID: C5139143
- Finding: Finding
Abnormality of the eye
- Ultra-low vision with retained light perception
Ultra-low vision with retained light perception
- MedGen UID: 1696045
- Concept ID: C5139243
- Finding: Finding
Abnormality of the eye
- Undetectable electroretinogram
Undetectable electroretinogram
- MedGen UID: 383742
- Concept ID: C1855685
- Finding: Finding
Abnormality of the eye
- Attenuation of retinal blood vessels
- Abnormality of the musculoskeletal system
- Macular scar
Macular scar
- MedGen UID: 140842
- Concept ID: C0423428
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Macular scar
- Abnormality of the nervous system
- Eye poking
Eye poking
- MedGen UID: 115926
- Concept ID: C0233593
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Eye poking
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