From HPO
Central scotoma- MedGen UID:
- 57750
- •Concept ID:
- C0152191
- •
- Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Color vision defect- MedGen UID:
- 115964
- •Concept ID:
- C0234629
- •
- Finding
An anomaly in the ability to discriminate between or recognize colors.
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.
Optic disc pallor- MedGen UID:
- 108218
- •Concept ID:
- C0554970
- •
- Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bull eye maculopathy- MedGen UID:
- 321812
- •Concept ID:
- C1828210
- •
- Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Attenuation of retinal blood vessels- MedGen UID:
- 480605
- •Concept ID:
- C3278975
- •
- Finding
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Electronegative electroretinogram- MedGen UID:
- 867203
- •Concept ID:
- C4021561
- •
- Finding
A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source
Cone-rod dystrophy- MedGen UID:
- 896366
- •Concept ID:
- C4085590
- •
- Disease or Syndrome
The 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\nThere 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\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.
Pigmentary retinopathy- MedGen UID:
- 1643295
- •Concept ID:
- C4551715
- •
- Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.