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Retinitis pigmentosa 20(RP20)

MedGen UID:
462436
•Concept ID:
C3151086
•
Disease or Syndrome
Synonyms: RP 20; RP20
 
Gene (location): RPE65 (1p31.3)
 
Monarch Initiative: MONDO:0013425
OMIM®: 613794

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. [from MONDO]

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
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.
See: Feature record | Search on this feature
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.
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
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Erectile disfunction medical treatment with phosphodiesterase 5 inhibitors (PDE5i) in patients with retinitis pigmentosa and side effects.
Cocci A, Romano A, Morelli G, Frediani D, Sodi A, Russo GI
Arch Ital Urol Androl 2020 Dec 18;92(4) doi: 10.4081/aiua.2020.4.326. PMID: 33348949
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation.
Yu M, Yu L, Wang ZX
Chin Med J (Engl) 2016 Oct 20;129(20):2519-2520. doi: 10.4103/0366-6999.191855. PMID: 27748354Free PMC Article
The 'Cuban treatment' for retinitis pigmentosa.
Kelleher L
Aust N Z J Ophthalmol 1992 May;20(2):143-4. doi: 10.1111/j.1442-9071.1992.tb00729.x. PMID: 1389135

Recent clinical studies

Etiology

IMPG2-Related Maculopathy.
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
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
Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations.
Léveillard T, Klipfel L
Int J Mol Sci 2019 Jan 28;20(3) doi: 10.3390/ijms20030557. PMID: 30696106Free PMC Article
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005

Diagnosis

IMPG2-Related Maculopathy.
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
Functional Genomics of the Retina to Elucidate its Construction and Deconstruction.
Blond F, Léveillard T
Int J Mol Sci 2019 Oct 4;20(19) doi: 10.3390/ijms20194922. PMID: 31590277Free PMC Article
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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005

Therapy

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
Dysregulation of histone deacetylases in ocular diseases.
Jun JH, Kim JS, Palomera LF, Jo DG
Arch Pharm Res 2024 Jan;47(1):20-39. Epub 2023 Dec 27 doi: 10.1007/s12272-023-01482-x. PMID: 38151648
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS
Int J Pediatr Otorhinolaryngol 2017 Nov;102:127-132. Epub 2017 Sep 12 doi: 10.1016/j.ijporl.2017.09.004. PMID: 29106859
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Ataxia with vitamin E deficiency: update of molecular diagnosis.
Di Donato I, Bianchi S, Federico A
Neurol Sci 2010 Aug;31(4):511-5. Epub 2010 May 13 doi: 10.1007/s10072-010-0261-1. PMID: 20464573

Prognosis

Leber Congenital Amaurosis.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS
Int J Pediatr Otorhinolaryngol 2017 Nov;102:127-132. Epub 2017 Sep 12 doi: 10.1016/j.ijporl.2017.09.004. PMID: 29106859
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Exploring the molecular basis of Bardet-Biedl syndrome.
Katsanis N, Lupski JR, Beales PL
Hum Mol Genet 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. PMID: 11673413
Retinitis pigmentosa.
Merin S, Auerbach E
Surv Ophthalmol 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6. PMID: 817406

Clinical prediction guides

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.
Zhang J, de Guimaraes TAC, Thompson D, Michaelides M
Retin Cases Brief Rep 2025 Mar 1;19(2):152-156. doi: 10.1097/ICB.0000000000001568. PMID: 38437796Free PMC Article
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
IMPG2-Related Maculopathy.
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
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS
Int J Pediatr Otorhinolaryngol 2017 Nov;102:127-132. Epub 2017 Sep 12 doi: 10.1016/j.ijporl.2017.09.004. PMID: 29106859
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Recent systematic reviews

Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis.
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
Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
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
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Vitamin A and fish oils for retinitis pigmentosa.
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

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