U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Visual acuity no light perception
MedGen UID:
617771
•Concept ID:
C0442774
•
Finding
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Coloboma of macula
MedGen UID:
342305
•Concept ID:
C1852767
•
Congenital Abnormality
A macular coloboma is an area of 2-6 disk diameters in which there is total or considerable chorioretinal maldevelopment, often with extasia of the underlying sclera which produces the white appearance visible ophthalmoscopically (summary by Phillips, 1970).
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

CRISPRi-Mediated Treatment of Dominant Rhodopsin-Associated Retinitis Pigmentosa.
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
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
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
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
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

Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
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
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
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
Renal transplantation in Bardet-Biedl Syndrome.
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
Providing comprehensive genetic-based ophthalmic care.
Branham K, Yashar BM
Clin Genet 2013 Aug;84(2):183-9. Epub 2013 Jun 5 doi: 10.1111/cge.12192. PMID: 23662791
Keratitis with hypoparathyroidism.
Stieglitz LN, Kind HP, Kazdan JJ, Fraser D, Kooh SW
Am J Ophthalmol 1977 Oct;84(4):467-72. doi: 10.1016/0002-9394(77)90436-6. PMID: 562071

Diagnosis

Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
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
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
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
Genes and mutations causing retinitis pigmentosa.
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
Mitochondrial dysfunction and molecular pathways of disease.
Pieczenik SR, Neustadt J
Exp Mol Pathol 2007 Aug;83(1):84-92. Epub 2007 Jan 18 doi: 10.1016/j.yexmp.2006.09.008. PMID: 17239370

Therapy

Outcomes of Ahmed glaucoma valve implantation for steroid-induced elevated intraocular pressure in patients with retinitis pigmentosa.
Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Renal transplantation in Bardet-Biedl Syndrome.
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
The Argus II prosthesis facilitates reaching and grasping tasks: a case series.
Kotecha A, Zhong J, Stewart D, da Cruz L
BMC Ophthalmol 2014 May 23;14:71. doi: 10.1186/1471-2415-14-71. PMID: 24885164Free PMC Article
Effect of alcohol and light on the retinal pigment epithelium of normal subjects and patients with retinal dystrophies.
Arden GB, Wolf JE, Singbartl F, Berninger TE, Rudolph G, Kampik A
Br J Ophthalmol 2000 Aug;84(8):881-3. doi: 10.1136/bjo.84.8.881. PMID: 10906096Free PMC Article
Cone and rod function in vitamin A deficiency with chronic alcoholism and in retinitis pigmentosa.
Sandberg MA, Rosen JB, Berson EL
Am J Ophthalmol 1977 Nov;84(5):658-65. doi: 10.1016/0002-9394(77)90381-6. PMID: 303866

Prognosis

Outcomes of Ahmed glaucoma valve implantation for steroid-induced elevated intraocular pressure in patients with retinitis pigmentosa.
Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Renal transplantation in Bardet-Biedl Syndrome.
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
The Argus II prosthesis facilitates reaching and grasping tasks: a case series.
Kotecha A, Zhong J, Stewart D, da Cruz L
BMC Ophthalmol 2014 May 23;14:71. doi: 10.1186/1471-2415-14-71. PMID: 24885164Free PMC Article
Developments in molecular genetics and electrophysiology in inherited retinal disorders.
Andréasson S
Acta Ophthalmol Scand 2006 Apr;84(2):161-8. doi: 10.1111/j.1600-0420.2006.00657.x. PMID: 16637830
Epidemiology of retinitis pigmentosa in Denmark.
Haim M
Acta Ophthalmol Scand Suppl 2002;(233):1-34. doi: 10.1046/j.1395-3907.2002.00001.x. PMID: 11921605

Clinical prediction guides

Refractive errors in patients with Bardet Biedl syndrome.
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
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
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
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
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
Usher syndrome. A temporal bone report.
van Aarem A, Cremers WR, Benraad-van Rens MJ
Arch Otolaryngol Head Neck Surg 1995 Aug;121(8):916-21. doi: 10.1001/archotol.1995.01890080082016. PMID: 7619421

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...