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Retinitis pigmentosa 41(RP41)

MedGen UID:
383126
Concept ID:
C2677516
Disease or Syndrome
Synonyms: Retinal degeneration, autosomal recessive, prominin-related; RP 41; RP41
 
Gene (location): PROM1 (4p15.32)
 
Monarch Initiative: MONDO:0012796
OMIM®: 612095

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene. [from MONDO]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
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.
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.
Severely reduced visual acuity
MedGen UID:
226987
Concept ID:
C1301509
Disease or Syndrome
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.
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.
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.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Ozmert E, Arslan U
Stem Cells Transl Med 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. PMID: 37713598Free PMC Article
Soucy M, Tanaka AJ, Dharmadhikari A
Methods Mol Biol 2023;2560:41-66. doi: 10.1007/978-1-0716-2651-1_4. PMID: 36481882

Recent clinical studies

Etiology

Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. PMID: 35129589Free PMC Article
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC
Clin Genet 2021 Feb;99(2):226-235. Epub 2020 Nov 3 doi: 10.1111/cge.13868. PMID: 33089500Free PMC Article
Brown GC, Brown RH, Brown MM
Int Ophthalmol 1987 Oct;11(1):41-50. doi: 10.1007/BF02027896. PMID: 2447026
Sieving PA, Fishman GA
Br J Ophthalmol 1978 Mar;62(3):163-7. doi: 10.1136/bjo.62.3.163. PMID: 638108Free PMC Article

Diagnosis

Soucy M, Tanaka AJ, Dharmadhikari A
Methods Mol Biol 2023;2560:41-66. doi: 10.1007/978-1-0716-2651-1_4. PMID: 36481882
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G
Sci Rep 2017 Feb 3;7:41937. doi: 10.1038/srep41937. PMID: 28157192Free PMC Article
De Laey JJ
Bull Soc Belge Ophtalmol 1991;241:41-50. PMID: 1840995

Therapy

Ali S, Baig S, Wanninayake S, da Silva Xavier G, Dawson C, Paisey R, Geberhiwot T
Diabetes Obes Metab 2024 Mar;26(3):989-996. Epub 2023 Dec 27 doi: 10.1111/dom.15398. PMID: 38151964
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Makuloluwa AK, Dodeja R, Georgiou M, Gonzalez-Martin J, Hagan R, Madhusudhan S, Michaelides M
Ophthalmic Genet 2020 Oct;41(5):451-456. Epub 2020 Jun 25 doi: 10.1080/13816810.2020.1783689. PMID: 32586184
Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924
Froger N, Moutsimilli L, Cadetti L, Jammoul F, Wang QP, Fan Y, Gaucher D, Rosolen SG, Neveux N, Cynober L, Sahel JA, Picaud S
Prog Retin Eye Res 2014 Jul;41:44-63. Epub 2014 Apr 8 doi: 10.1016/j.preteyeres.2014.03.001. PMID: 24721186

Prognosis

Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free PMC Article
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. PMID: 35129589Free PMC Article
Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC
Clin Genet 2021 Feb;99(2):226-235. Epub 2020 Nov 3 doi: 10.1111/cge.13868. PMID: 33089500Free PMC Article
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E
Genet Med 2020 Dec;22(12):2041-2051. Epub 2020 Aug 5 doi: 10.1038/s41436-020-0915-1. PMID: 32753734Free PMC Article

Clinical prediction guides

Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free PMC Article
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E
Genet Med 2020 Dec;22(12):2041-2051. Epub 2020 Aug 5 doi: 10.1038/s41436-020-0915-1. PMID: 32753734Free PMC Article
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
Froger N, Moutsimilli L, Cadetti L, Jammoul F, Wang QP, Fan Y, Gaucher D, Rosolen SG, Neveux N, Cynober L, Sahel JA, Picaud S
Prog Retin Eye Res 2014 Jul;41:44-63. Epub 2014 Apr 8 doi: 10.1016/j.preteyeres.2014.03.001. PMID: 24721186

Recent systematic reviews

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free 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
Zafar S, Ahmad K, Ali A, Baig R
J Pak Med Assoc 2017 Nov;67(11):1734-1739. PMID: 29171570
Hodge WG, Barnes D, Schachter HM, Pan YI, Lowcock EC, Zhang L, Sampson M, Morrison A, Tran K, Miguelez M, Lewin G
Can J Ophthalmol 2006 Aug;41(4):481-90. doi: 10.1016/S0008-4182(06)80012-8. PMID: 16883366

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