From HPO
Retinal arteriolar constriction- MedGen UID:
- 853673
- •Concept ID:
- C2176208
- •
- Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Pallor- MedGen UID:
- 10547
- •Concept ID:
- C0030232
- •
- Finding
Abnormally pale skin.
Macular degeneration- MedGen UID:
- 7434
- •Concept ID:
- C0024437
- •
- Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Abnormal optic nerve morphology- MedGen UID:
- 472883
- •Concept ID:
- C0029131
- •
- Finding
Abnormality of the optic nerve.
Epiphora- MedGen UID:
- 57518
- •Concept ID:
- C0152227
- •
- Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Peripheral visual field loss- MedGen UID:
- 116124
- •Concept ID:
- C0241688
- •
- Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Blindness- MedGen UID:
- 99138
- •Concept ID:
- C0456909
- •
- Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Abnormality of retinal pigmentation- MedGen UID:
- 350681
- •Concept ID:
- C1862475
- •
- Finding
Cone-rod dystrophy- MedGen UID:
- 896366
- •Concept ID:
- C4085590
- •
- Disease or Syndrome
There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the nervous system