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.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Bradyopsia- MedGen UID:
- 331206
- •Concept ID:
- C1842073
- •
- Finding
Prolonged electroretinal response suppression-1 (PERRS1), also referred to as bradyopsia-1, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010).
Genetic Heterogeneity of Prolonged Electroretinal Response Suppression
PERRS2 (620344) is caused by mutation in the RGS9BP gene (607814), which encodes the binding partner of RGS9 that anchors it to the photoreceptor outer segment disc membrane.
Difficulty adjusting to changes in luminance- MedGen UID:
- 892524
- •Concept ID:
- C4072994
- •
- Finding
- Abnormality of the eye
- Abnormality of the nervous system