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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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Abnormal fundus morphology
MedGen UID:
871316
Concept ID:
C4025804
Anatomical Abnormality
Any structural abnormality of the fundus of the eye.
Difficulty adjusting to changes in luminance
MedGen UID:
892524
Concept ID:
C4072994
Finding
Mildly reduced visual acuity
MedGen UID:
1671080
Concept ID:
C4732817
Finding
Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.

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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