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Congenital stationary cone dysfunction

MedGen UID:
850784
•Concept ID:
C0543968
•
Disease or Syndrome
Synonym: Cone dysfunction
 
HPO: HP:0030637

Definition

Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital stationary cone dysfunction

Professional guidelines

PubMed

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322

Recent clinical studies

Etiology

RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO
Ophthalmic Genet 2023 Dec;44(6):595-597. Epub 2023 Feb 10 doi: 10.1080/13816810.2023.2175224. PMID: 36762997
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Multimodal imaging in CABP4-related retinopathy.
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Photoreceptor and postreceptor responses in congenital stationary night blindness.
Raghuram A, Hansen RM, Moskowitz A, Fulton AB
Invest Ophthalmol Vis Sci 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. PMID: 23761088Free PMC Article

Diagnosis

RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO
Ophthalmic Genet 2023 Dec;44(6):595-597. Epub 2023 Feb 10 doi: 10.1080/13816810.2023.2175224. PMID: 36762997
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T
Ophthalmic Genet 2021 Aug;42(4):412-419. Epub 2021 Mar 26 doi: 10.1080/13816810.2021.1904422. PMID: 33769208
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Photoreceptor and postreceptor responses in congenital stationary night blindness.
Raghuram A, Hansen RM, Moskowitz A, Fulton AB
Invest Ophthalmol Vis Sci 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. PMID: 23761088Free PMC Article

Therapy

Electroretinographic abnormalities associated with pregabalin: a case report.
Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T
Doc Ophthalmol 2020 Jun;140(3):279-287. Epub 2020 Jan 3 doi: 10.1007/s10633-019-09743-1. PMID: 31900741
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group
Retina 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. PMID: 28145975Free PMC Article
'On' response defect in paraneoplastic night blindness with cutaneous malignant melanoma.
Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MO
Invest Ophthalmol Vis Sci 1992 Mar;33(3):477-83. PMID: 1544774

Prognosis

Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG, Bertelsen M, Grønskov K, Kohl S, Kessel L
Genes (Basel) 2023 Mar 10;14(3) doi: 10.3390/genes14030690. PMID: 36980963Free PMC Article
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
Multimodal imaging in CABP4-related retinopathy.
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425

Clinical prediction guides

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Peshenko IV, Olshevskaya EV, Dizhoor AM
J Biol Chem 2020 Dec 25;295(52):18301-18315. Epub 2020 Oct 27 doi: 10.1074/jbc.RA120.015553. PMID: 33109612Free PMC Article
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
Doc Ophthalmol 2020 Apr;140(2):147-157. Epub 2019 Oct 3 doi: 10.1007/s10633-019-09727-1. PMID: 31583501
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1768-1778. doi: 10.1167/iovs.16-20745. PMID: 28334377Free PMC Article
Vitritis in pediatric genetic retinal disorders.
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV
Ophthalmology 2015 Jan;122(1):192-9. Epub 2014 Sep 10 doi: 10.1016/j.ophtha.2014.07.037. PMID: 25217415Free PMC Article
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764

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