U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Retinitis pigmentosa 14(RP14)

MedGen UID:
325056
Concept ID:
C1838603
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED; RP 14; RP14
 
Gene (location): TULP1 (6p21.31)
 
Monarch Initiative: MONDO:0010827
OMIM®: 600132

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. [from MONDO]

Clinical features

From HPO
Retinal arteriolar constriction
MedGen UID:
853673
Concept ID:
C2176208
Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
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.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
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).
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q
Int J Mol Sci 2023 Apr 4;24(7) doi: 10.3390/ijms24076728. PMID: 37047703Free PMC Article
Joachim SC
Int J Mol Sci 2022 Jul 8;23(14) doi: 10.3390/ijms23147576. PMID: 35886925Free PMC Article

Recent clinical studies

Etiology

Eshel YM, Abaev O, Yahalom C
Eur J Ophthalmol 2024 Jul;34(4):986-991. Epub 2023 Nov 3 doi: 10.1177/11206721231212768. PMID: 37920903Free PMC Article
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
Carrella S, Di Guida M, Brillante S, Piccolo D, Ciampi L, Guadagnino I, Garcia Piqueras J, Pizzo M, Marrocco E, Molinari M, Petrogiannakis G, Barbato S, Ezhova Y, Auricchio A, Franco B, De Leonibus E, Surace EM, Indrieri A, Banfi S
EMBO Mol Med 2022 Nov 8;14(11):e15941. Epub 2022 Oct 4 doi: 10.15252/emmm.202215941. PMID: 36194668Free PMC Article
Maxwell DW, O'Keefe RT, Roy S, Hentges KE
Biochem Soc Trans 2021 Jun 30;49(3):1221-1231. doi: 10.1042/BST20200798. PMID: 34060618
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article

Diagnosis

Scalabrino ML, Thapa M, Wang T, Sampath AP, Chen J, Field GD
Nat Commun 2023 Dec 12;14(1):8256. doi: 10.1038/s41467-023-44063-8. PMID: 38086857Free PMC Article
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
Kenny J, Forsythe E, Beales P, Bacchelli C
Per Med 2017 Sep;14(5):447-456. Epub 2017 Sep 4 doi: 10.2217/pme-2017-0019. PMID: 29754569
Růžičková Š, Staněk D
RNA Biol 2017 May 4;14(5):544-552. Epub 2016 Jun 14 doi: 10.1080/15476286.2016.1191735. PMID: 27302685Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Maddali MM, Munasinghe TD, Al Aamri I, Al-Abri IA, Al-Adawi S
Sultan Qaboos Univ Med J 2023 Dec;23(Spec Iss):63-67. Epub 2023 Nov 30 doi: 10.18295/squmj.12.2023.080. PMID: 38161763Free PMC Article
Kwan WC, Brunton EK, Begeng JM, Richardson RT, Ibbotson MR, Tong W
Annu Int Conf IEEE Eng Med Biol Soc 2023 Jul;2023:1-4. doi: 10.1109/EMBC40787.2023.10340849. PMID: 38083106
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
Baskys A
J Alzheimers Dis 2014;42 Suppl 3:S267-76. doi: 10.3233/JAD-140003. PMID: 25024308
Nelson ML, Martidis A
Curr Opin Ophthalmol 2003 Feb;14(1):39-43. doi: 10.1097/00055735-200302000-00007. PMID: 12544809

Prognosis

Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free PMC Article
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M
Nat Rev Cardiol 2017 Apr;14(4):238-250. Epub 2016 Dec 22 doi: 10.1038/nrcardio.2016.203. PMID: 28004807Free PMC Article
Liu G, Liu X, Li H, Du Q, Wang F
Ophthalmic Res 2016;56(3):111-22. Epub 2016 Jun 29 doi: 10.1159/000445063. PMID: 27352292
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free PMC Article
Tebbe L, Mwoyosvi ML, Crane R, Makia MS, Kakakhel M, Cosgrove D, Al-Ubaidi MR, Naash MI
Nat Commun 2023 Feb 21;14(1):972. doi: 10.1038/s41467-023-36431-1. PMID: 36810733Free PMC Article
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Liu G, Liu X, Li H, Du Q, Wang F
Ophthalmic Res 2016;56(3):111-22. Epub 2016 Jun 29 doi: 10.1159/000445063. PMID: 27352292
Gropman AL, Adams DR
Semin Pediatr Neurol 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. PMID: 17331882

Recent systematic reviews

Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB
Surv Ophthalmol 2024 May-Jun;69(3):411-417. Epub 2023 Dec 1 doi: 10.1016/j.survophthal.2023.11.010. PMID: 38042377
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
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...