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Bradyopsia

MedGen UID:
331206
Concept ID:
C1842073
Finding
Synonym: Prolonged electroretinal response suppression
SNOMED CT: Bradyopsia (711163009); Prolonged electroretinal response suppression (711163009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: RGS9BP, RGS9
 
HPO: HP:0030511
Monarch Initiative: MONDO:0012033
OMIM® Phenotypic series: PS608415
Orphanet: ORPHA75374

Definition

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. [from OMIM]

Additional description

From MedlinePlus Genetics
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.

Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal.

The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.  https://medlineplus.gov/genetics/condition/bradyopsia

Conditions with this feature

Prolonged electroretinal response suppression 1
MedGen UID:
1840510
Concept ID:
C5829874
Finding

Recent clinical studies

Etiology

Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Smirnov V, Drumare I, Bouacha I, Puech B, Defoort-Dhellemmes S
Doc Ophthalmol 2015 Oct;131(2):149-58. Epub 2015 Jul 3 doi: 10.1007/s10633-015-9508-8. PMID: 26138751
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
Ophthalmology 2010 Jan;117(1):120-127.e1. Epub 2009 Oct 8 doi: 10.1016/j.ophtha.2009.06.011. PMID: 19818506
Hartong DT, Pott JW, Kooijman AC
Ophthalmology 2007 Dec;114(12):2323-31. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.04.057. PMID: 17826834

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
Khan AO
J AAPOS 2017 Dec;21(6):507-509.e1. Epub 2017 Oct 28 doi: 10.1016/j.jaapos.2017.07.212. PMID: 29107794
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
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
Vincent A, Robson AG, Holder GE
Retina 2013 Jan;33(1):5-12. doi: 10.1097/IAE.0b013e31827e2306. PMID: 23263253

Prognosis

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Mol Vis 2016;22:150-60. Epub 2016 Feb 20 PMID: 26957898Free PMC Article
Smirnov V, Drumare I, Bouacha I, Puech B, Defoort-Dhellemmes S
Doc Ophthalmol 2015 Oct;131(2):149-58. Epub 2015 Jul 3 doi: 10.1007/s10633-015-9508-8. PMID: 26138751
Hartong DT, Pott JW, Kooijman AC
Ophthalmology 2007 Dec;114(12):2323-31. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.04.057. PMID: 17826834

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
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
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
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
Ophthalmology 2010 Jan;117(1):120-127.e1. Epub 2009 Oct 8 doi: 10.1016/j.ophtha.2009.06.011. PMID: 19818506
Hartong DT, Pott JW, Kooijman AC
Ophthalmology 2007 Dec;114(12):2323-31. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.04.057. PMID: 17826834

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