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Retinitis pigmentosa 84(RP84)

MedGen UID:
1648352
Concept ID:
C4748725
Disease or Syndrome
Synonym: RP84
 
Gene (location): DHX38 (16q22.2)
 
Monarch Initiative: MONDO:0032604
OMIM®: 618220

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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Visual acuity no light perception
MedGen UID:
617771
Concept ID:
C0442774
Finding
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).
Coloboma of macula
MedGen UID:
342305
Concept ID:
C1852767
Congenital Abnormality
A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.
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

Burnight ER, Wiley LA, Mullin NK, Adur MK, Lang MJ, Cranston CM, Jiao C, Russell SR, Sohn EH, Han IC, Ross JW, Stone EM, Mullins RF, Tucker BA
CRISPR J 2023 Dec;6(6):502-513. doi: 10.1089/crispr.2023.0039. PMID: 38108516Free PMC Article
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free 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

Recent clinical studies

Etiology

Deutsch S, Lommatzsch A, Weinitz S, Farmand G, Kellner U
Graefes Arch Clin Exp Ophthalmol 2022 Jun;260(6):1923-1931. Epub 2022 Jan 4 doi: 10.1007/s00417-021-05530-4. PMID: 34982219Free PMC Article
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I
Hum Mutat 2021 Jun;42(6):641-666. Epub 2021 May 16 doi: 10.1002/humu.24205. PMID: 33847019Free PMC Article
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Branham K, Yashar BM
Clin Genet 2013 Aug;84(2):183-9. Epub 2013 Jun 5 doi: 10.1111/cge.12192. PMID: 23662791

Diagnosis

Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Daiger SP, Sullivan LS, Bowne SJ
Clin Genet 2013 Aug;84(2):132-41. Epub 2013 Jun 19 doi: 10.1111/cge.12203. PMID: 23701314Free PMC Article
Branham K, Yashar BM
Clin Genet 2013 Aug;84(2):183-9. Epub 2013 Jun 5 doi: 10.1111/cge.12192. PMID: 23662791

Therapy

Charng J, Lamey TM, Thompson JA, McLaren TL, Attia MS, McAllister IL, Constable IJ, Mackey DA, De Roach JN, Chen FK
Transl Vis Sci Technol 2020 Sep;9(10):9. Epub 2020 Sep 9 doi: 10.1167/tvst.9.10.9. PMID: 32974081Free PMC Article
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE
JAMA Ophthalmol 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. PMID: 32970112Free PMC Article
Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG
Invest Ophthalmol Vis Sci 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931. PMID: 30208424
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Ogura S, Yasukawa T, Kato A, Usui H, Hirano Y, Yoshida M, Ogura Y
Am J Ophthalmol 2014 Nov;158(5):1093-8. Epub 2014 Jul 22 doi: 10.1016/j.ajo.2014.07.021. PMID: 25062603

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
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M
Am J Ophthalmol 2021 May;225:95-107. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.11.022. PMID: 33309813Free PMC Article
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE
JAMA Ophthalmol 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. PMID: 32970112Free PMC Article
Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M
Br J Ophthalmol 2019 Aug;103(8):1163-1166. Epub 2018 Oct 5 doi: 10.1136/bjophthalmol-2018-311964. PMID: 30291136
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600

Clinical prediction guides

Yavuz Saricay L, Baldwin G, Moulton EA, Gonzalez E, Rajabi F, Hunter DG, Fulton AB
Ophthalmic Genet 2024 Oct;45(5):435-440. Epub 2024 Jul 2 doi: 10.1080/13816810.2024.2357296. PMID: 38953718
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Altinbay D, Taskin I
Jpn J Ophthalmol 2021 Nov;65(6):777-785. Epub 2021 Oct 4 doi: 10.1007/s10384-021-00875-z. PMID: 34606034
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
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR
Eur J Hum Genet 2015 Oct;23(10):1318-27. Epub 2015 Feb 4 doi: 10.1038/ejhg.2014.283. PMID: 25649381Free PMC Article

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