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Prolonged electroretinal response suppression 2(PERRS2)

MedGen UID:
1841088
Concept ID:
C5830452
Finding
Synonyms: BRADYOPSIA 2; PERRS2
 
Gene (location): RGS9BP (19q13.11)
 
Monarch Initiative: MONDO:0958190
OMIM®: 620344

Definition

Prolonged electroretinal response suppression-2 (PERRS2), also referred to as bradyopsia-2, 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). For a discussion of genetic heterogeneity of prolonged electroretinal response suppression (PERRS), see 608415. [from OMIM]

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.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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

Etiology

Romero-Farina G, Aguadé-Bruix S, Garcia EV, Castell-Conesa J
Rev Esp Med Nucl Imagen Mol (Engl Ed) 2023 Nov-Dec;42(6):393-402. Epub 2023 Sep 24 doi: 10.1016/j.remnie.2023.09.003. PMID: 37748687

Diagnosis

Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A
Doc Ophthalmol 2020 Jun;140(3):273-277. Epub 2019 Nov 12 doi: 10.1007/s10633-019-09735-1. PMID: 31720979
Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M
Am J Ophthalmol 2015 Dec;160(6):1269-1275.e1. Epub 2015 Sep 3 doi: 10.1016/j.ajo.2015.08.032. PMID: 26343007Free PMC Article

Clinical prediction guides

Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A
Doc Ophthalmol 2020 Jun;140(3):273-277. Epub 2019 Nov 12 doi: 10.1007/s10633-019-09735-1. PMID: 31720979
Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M
Am J Ophthalmol 2015 Dec;160(6):1269-1275.e1. Epub 2015 Sep 3 doi: 10.1016/j.ajo.2015.08.032. PMID: 26343007Free PMC Article

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