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Retinitis pigmentosa 74(RP74)

MedGen UID:
906896
Concept ID:
C4225281
Disease or Syndrome
Synonym: RP74
 
Gene (location): BBS2 (16q13)
 
Monarch Initiative: MONDO:0014692
OMIM®: 616562

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. [from MONDO]

Clinical features

From HPO
Abnormal renal morphology
MedGen UID:
1633142
Concept ID:
C4551596
Anatomical Abnormality
Any structural anomaly of the kidney.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
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 polar cataract
MedGen UID:
376725
Concept ID:
C1850191
Anatomical Abnormality
A polar cataract that affects the posterior pole of the lens.
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.

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: 38108516
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F, Callus E, Cagnin S, Reggiani F, Minervini G, Tosatto S, Vettor R, Semenza C, Maffei P
Am J Med Genet A 2021 Mar;185(3):732-742. Epub 2021 Jan 7 doi: 10.1002/ajmg.a.62029. PMID: 33410256

Recent clinical studies

Etiology

Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Sparrow JR, Duncker T, Schuerch K, Paavo M, de Carvalho JRL Jr
Prog Retin Eye Res 2020 Jan;74:100774. Epub 2019 Aug 28 doi: 10.1016/j.preteyeres.2019.100774. PMID: 31472235Free 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
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015

Diagnosis

Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free PMC Article
Sparrow JR, Duncker T, Schuerch K, Paavo M, de Carvalho JRL Jr
Prog Retin Eye Res 2020 Jan;74:100774. Epub 2019 Aug 28 doi: 10.1016/j.preteyeres.2019.100774. PMID: 31472235Free 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
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015

Therapy

Dave AD, Chen KG, Chiang TT, Singaravelu J, Alvarez JA, Wong WT, Cukras CA
Graefes Arch Clin Exp Ophthalmol 2023 Aug;261(8):2209-2220. Epub 2023 Mar 8 doi: 10.1007/s00417-023-05986-6. PMID: 36882562
Hathibelagal AR, Bhutia P, Das M, Babu H, Jalali S, Takkar B, Paremeswarappa DC, Ballae Ganeshrao S
Ophthalmic Physiol Opt 2023 Mar;43(2):231-238. Epub 2022 Nov 22 doi: 10.1111/opo.13072. PMID: 36416095
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
Tochitsky I, Kramer RH
Curr Opin Neurobiol 2015 Oct;34:74-8. Epub 2015 Feb 22 doi: 10.1016/j.conb.2015.01.018. PMID: 25706312Free PMC Article
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

Prognosis

Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Pfeiffer RL, Marc RE, Jones BW
Prog Retin Eye Res 2020 Jan;74:100771. Epub 2019 Jul 26 doi: 10.1016/j.preteyeres.2019.07.004. PMID: 31356876Free PMC Article
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article

Clinical prediction guides

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
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

Recent systematic reviews

Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

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