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Retinitis pigmentosa 49(RP49)

MedGen UID:
462409
Concept ID:
C3151059
Disease or Syndrome
Synonym: RP49
 
Gene (location): CNGA1 (4p12)
 
Monarch Initiative: MONDO:0013405
OMIM®: 613756

Definition

Retinitis pigmentosa-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Peripheral visual field loss
MedGen UID:
116124
Concept ID:
C0241688
Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P
Clin Exp Ophthalmol 2019 Aug;47(6):779-786. Epub 2019 May 8 doi: 10.1111/ceo.13516. PMID: 30977268
Anasagasti A, Barandika O, Irigoyen C, Benitez BA, Cooper B, Cruchaga C, López de Munain A, Ruiz-Ederra J
Exp Eye Res 2013 Nov;116:386-394. doi: 10.1016/j.exer.2013.10.011. PMID: 24416769

Recent clinical studies

Etiology

Hung MC, Chen YY
PLoS One 2022;17(9):e0274066. Epub 2022 Sep 9 doi: 10.1371/journal.pone.0274066. PMID: 36083972Free PMC Article
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276Free PMC Article

Diagnosis

Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S
HGG Adv 2023 Apr 13;4(2):100181. Epub 2023 Jan 18 doi: 10.1016/j.xhgg.2023.100181. PMID: 36785559Free PMC Article
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Edmond JC
Int Ophthalmol Clin 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. PMID: 19584620
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Kao CC, Chen KJ, Cheng KC
Medicine (Baltimore) 2023 Dec 22;102(51):e36589. doi: 10.1097/MD.0000000000036589. PMID: 38134121Free PMC Article
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free PMC Article
Fujikado T, Kamei M, Sakaguchi H, Kanda H, Endo T, Hirota M, Morimoto T, Nishida K, Kishima H, Terasawa Y, Oosawa K, Ozawa M, Nishida K
Invest Ophthalmol Vis Sci 2016 Nov 1;57(14):6147-6157. doi: 10.1167/iovs.16-20367. PMID: 27835711
de Balthasar C, Patel S, Roy A, Freda R, Greenwald S, Horsager A, Mahadevappa M, Yanai D, McMahon MJ, Humayun MS, Greenberg RJ, Weiland JD, Fine I
Invest Ophthalmol Vis Sci 2008 Jun;49(6):2303-14. doi: 10.1167/iovs.07-0696. PMID: 18515576Free PMC Article

Prognosis

Antaki F, Coussa RG, Kahwati G, Hammamji K, Sebag M, Duval R
Br J Ophthalmol 2023 Jan;107(1):90-95. Epub 2021 Aug 3 doi: 10.1136/bjophthalmol-2021-319030. PMID: 34344669
Christelle M, Lise M, Ben M'Barek K
Int Rev Neurobiol 2022;166:49-77. Epub 2022 Oct 21 doi: 10.1016/bs.irn.2022.09.004. PMID: 36424096
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Buckley TMW, Josan AS, Taylor LJ, Jolly JK, Cehajic-Kapetanovic J, MacLaren RE
Transl Vis Sci Technol 2022 May 2;11(5):15. doi: 10.1167/tvst.11.5.15. PMID: 35576214Free PMC Article
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276Free PMC Article
Holopainen JM, Cheng CL, Molday LL, Johal G, Coleman J, Dyka F, Hii T, Ahn J, Molday RS
Biochemistry 2010 Sep 7;49(35):7439-47. doi: 10.1021/bi1005249. PMID: 20669900Free PMC Article

Recent systematic reviews

Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJ
Ophthalmic Genet 2023 Apr;44(2):109-118. Epub 2023 Mar 1 doi: 10.1080/13816810.2023.2182329. PMID: 36856324
Khojasteh H, Riazi-Esfahani H, Mirghorbani M, Khalili Pour E, Mahmoudi A, Mahdizad Z, Akhavanrezayat A, Ghoraba H, Do DV, Nguyen QD
J Cataract Refract Surg 2023 Mar 1;49(3):312-320. Epub 2022 Nov 21 doi: 10.1097/j.jcrs.0000000000001101. PMID: 36730350Free PMC Article

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