From HPO
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.
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Cystoid macular degeneration- MedGen UID:
- 472900
- •Concept ID:
- C0154850
- •
- Disease or Syndrome
A form of macular degeneration characterized by the presence of multiple cysts in the macula.
Red-green dyschromatopsia- MedGen UID:
- 102324
- •Concept ID:
- C0155016
- •
- Disease or Syndrome
Difficulty with discriminating red and green hues.
Blue color blindness- MedGen UID:
- 57827
- •Concept ID:
- C0155017
- •
- Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Constriction of peripheral visual field- MedGen UID:
- 68613
- •Concept ID:
- C0235095
- •
- Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Nuclear cataract- MedGen UID:
- 140274
- •Concept ID:
- C0392557
- •
- Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Posterior subcapsular cataract- MedGen UID:
- 163646
- •Concept ID:
- C0858617
- •
- Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Undetectable light- and dark-adapted electroretinogram- MedGen UID:
- 867212
- •Concept ID:
- C4021570
- •
- Finding
Absence of the combined rod-and-cone response on electroretinogram.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
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.
- Abnormality of the eye
- Abnormality of the nervous system