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Retinitis pigmentosa 72(RP72)

MedGen UID:
895867
Concept ID:
C4225315
Disease or Syndrome
Synonym: RP72
 
Gene (location): ZNF408 (11p11.2)
 
Monarch Initiative: MONDO:0014653
OMIM®: 616469

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene. [from MONDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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.
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.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
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.
Peripapillary atrophy
MedGen UID:
473480
Concept ID:
C1719838
Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
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
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins S
Intern Med J 2004 Jan-Feb;34(1-2):10-9. doi: 10.1111/j.1444-0903.2004.t01-3-.x. PMID: 14748908

Recent clinical studies

Etiology

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, de Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF
Retina 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808. PMID: 32301896
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
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
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Diagnosis

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
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
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS
Genet Med 2016 Jun;18(6):554-62. Epub 2015 Sep 10 doi: 10.1038/gim.2015.127. PMID: 26355662
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Therapy

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
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
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
da Cruz L, Coley BF, Dorn J, Merlini F, Filley E, Christopher P, Chen FK, Wuyyuru V, Sahel J, Stanga P, Humayun M, Greenberg RJ, Dagnelie G; Argus II Study Group
Br J Ophthalmol 2013 May;97(5):632-6. Epub 2013 Feb 20 doi: 10.1136/bjophthalmol-2012-301525. PMID: 23426738Free PMC Article
Vingolo EM, Rocco M, Grenga P, Salvatore S, Pelaia P
Graefes Arch Clin Exp Ophthalmol 2008 Jan;246(1):93-8. Epub 2007 Aug 3 doi: 10.1007/s00417-007-0652-z. PMID: 17674017

Prognosis

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S
Indian J Ophthalmol 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. PMID: 37322672Free PMC Article
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039Free PMC Article
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, de Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF
Retina 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808. PMID: 32301896
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257

Clinical prediction guides

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. PMID: 38088826Free PMC Article
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039Free PMC Article
Ehara H, Tamaoki Y, Eda I
Pediatr Neurol 1999 Oct;21(4):757-62. doi: 10.1016/s0887-8994(99)00078-8. PMID: 10580893

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