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Prolonged electroretinal response suppression 1(PERRS1)

MedGen UID:
1840510
Concept ID:
C5829874
Finding
Synonyms: BRADYOPSIA 1; PERRS1
 
Gene (location): RGS9 (17q24.1)
 
Monarch Initiative: MONDO:0958180
OMIM®: 608415

Clinical features

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Vincent A, Robson AG, Holder GE
Retina 2013 Jan;33(1):5-12. doi: 10.1097/IAE.0b013e31827e2306. PMID: 23263253

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