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Slow pupillary light response

MedGen UID:
868184
Concept ID:
C4022576
Finding
Synonym: Sluggish pupillary reaction
 
HPO: HP:0030211

Definition

Reduced velocity and acceleration in the pupillary light response. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSlow pupillary light response

Conditions with this feature

Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Disease or Syndrome
In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Charcot-Marie-Tooth disease type 2J
MedGen UID:
375107
Concept ID:
C1843153
Disease or Syndrome
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Hypomyelinating leukodystrophy 3
MedGen UID:
342403
Concept ID:
C1850053
Disease or Syndrome
Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010). The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; 312080), which is caused by mutation in the PLP1 gene (300401). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Leber congenital amaurosis 15
MedGen UID:
462556
Concept ID:
C3151206
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Knobloch syndrome 1
MedGen UID:
1642123
Concept ID:
C4551775
Disease or Syndrome
Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.
Urinary bladder, atony of
MedGen UID:
1684829
Concept ID:
C5231389
Disease or Syndrome
Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (congenital anomalies of the kidney and urinary tract) is an autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension (summary by Mann et al., 2019).

Recent clinical studies

Etiology

Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Ashtari M, Nikonova ES, Marshall KA, Young GJ, Aravand P, Pan W, Ying GS, Willett AE, Mahmoudian M, Maguire AM, Bennett J
Ophthalmology 2017 Jun;124(6):873-883. Epub 2017 Feb 23 doi: 10.1016/j.ophtha.2017.01.029. PMID: 28237426Free PMC Article
Hamer EG, Vermeulen RJ, Dijkstra LJ, Hielkema T, Kos C, Bos AF, Hadders-Algra M
Acta Paediatr 2016 Dec;105(12):1493-1501. Epub 2016 Aug 19 doi: 10.1111/apa.13532. PMID: 27468114
Bramness JG, Khiabani HZ, Mørland J
Addiction 2010 Jun;105(6):1080-7. Epub 2010 Mar 10 doi: 10.1111/j.1360-0443.2010.02911.x. PMID: 20331551

Diagnosis

Dance S, Scholefield BR, Morris KP, Kanthimathinathan HK
J Neurosci Nurs 2020 Jun;52(3):128-131. doi: 10.1097/JNN.0000000000000501. PMID: 32175991
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Hamer EG, Vermeulen RJ, Dijkstra LJ, Hielkema T, Kos C, Bos AF, Hadders-Algra M
Acta Paediatr 2016 Dec;105(12):1493-1501. Epub 2016 Aug 19 doi: 10.1111/apa.13532. PMID: 27468114
Onorati F, Mainardi LT, Sirca F, Russo V, Barbieri R
Biomed Tech (Berl) 2016 Feb;61(1):95-106. doi: 10.1515/bmt-2015-0027. PMID: 26351899
Eckmiller MS
Prog Retin Eye Res 2004 Sep;23(5):495-522. doi: 10.1016/j.preteyeres.2004.04.005. PMID: 15302348

Therapy

Ashtari M, Nikonova ES, Marshall KA, Young GJ, Aravand P, Pan W, Ying GS, Willett AE, Mahmoudian M, Maguire AM, Bennett J
Ophthalmology 2017 Jun;124(6):873-883. Epub 2017 Feb 23 doi: 10.1016/j.ophtha.2017.01.029. PMID: 28237426Free PMC Article
Gooley JJ, Ho Mien I, St Hilaire MA, Yeo SC, Chua EC, van Reen E, Hanley CJ, Hull JT, Czeisler CA, Lockley SW
J Neurosci 2012 Oct 10;32(41):14242-53. doi: 10.1523/JNEUROSCI.1321-12.2012. PMID: 23055493Free PMC Article
Bramness JG, Khiabani HZ, Mørland J
Addiction 2010 Jun;105(6):1080-7. Epub 2010 Mar 10 doi: 10.1111/j.1360-0443.2010.02911.x. PMID: 20331551
Benito-León J, Bravo J, Mateos F, Simón R
Childs Nerv Syst 1996 Sep;12(9):559-61. doi: 10.1007/BF00261612. PMID: 8906374
Fusco BM, Alessandri M, Campagnolo V, Fanciullacci M
Clin Sci (Lond) 1990 May;78(5):457-62. doi: 10.1042/cs0780457. PMID: 2162270

Prognosis

Dance S, Scholefield BR, Morris KP, Kanthimathinathan HK
J Neurosci Nurs 2020 Jun;52(3):128-131. doi: 10.1097/JNN.0000000000000501. PMID: 32175991
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Ashtari M, Nikonova ES, Marshall KA, Young GJ, Aravand P, Pan W, Ying GS, Willett AE, Mahmoudian M, Maguire AM, Bennett J
Ophthalmology 2017 Jun;124(6):873-883. Epub 2017 Feb 23 doi: 10.1016/j.ophtha.2017.01.029. PMID: 28237426Free PMC Article
Fusco BM, Alessandri M, Campagnolo V, Fanciullacci M
Clin Sci (Lond) 1990 May;78(5):457-62. doi: 10.1042/cs0780457. PMID: 2162270

Clinical prediction guides

Cleymaet AM, Berezin CT, Vigh J
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020554. PMID: 33429857Free PMC Article
Dance S, Scholefield BR, Morris KP, Kanthimathinathan HK
J Neurosci Nurs 2020 Jun;52(3):128-131. doi: 10.1097/JNN.0000000000000501. PMID: 32175991
Shoyombo I, Aiyagari V, Stutzman SE, Atem F, Hill M, Figueroa SA, Miller C, Howard A, Olson DM
Sci Rep 2018 May 3;8(1):6992. doi: 10.1038/s41598-018-25477-7. PMID: 29725074Free PMC Article
Hamer EG, Vermeulen RJ, Dijkstra LJ, Hielkema T, Kos C, Bos AF, Hadders-Algra M
Acta Paediatr 2016 Dec;105(12):1493-1501. Epub 2016 Aug 19 doi: 10.1111/apa.13532. PMID: 27468114
Bramness JG, Khiabani HZ, Mørland J
Addiction 2010 Jun;105(6):1080-7. Epub 2010 Mar 10 doi: 10.1111/j.1360-0443.2010.02911.x. PMID: 20331551

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