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Retinitis pigmentosa 36(RP36)

MedGen UID:: 351175
•Concept ID:: C1864621
•: Disease or Syndrome

Synonyms:	RP 36; RP36

Gene (location): Gene(s) directly associated with this condition or phenotype.	PRCD (17q25.1)

Monarch Initiative:	MONDO:0012523
OMIM®:	610599

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD 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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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).

See: Feature record | Search on this feature

Undetectable electroretinogram

MedGen UID:: 383742
•Concept ID:: C1855685
•: Finding

Lack of any response to stimulation upon electroretinography.

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

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.

See: Feature record | Search on this feature

Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRetinitis pigmentosa

Pathological process
- Disease
  - Disorder by Site
    - Disorder of eye
      - Hereditary eye diseases
        Retinitis pigmentosa
        Retinitis pigmentosa 36

Professional guidelines

PubMed

Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.

Ozmert E, Arslan U
Stem Cells Transl Med 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. PMID: 37713598 Free PMC Article

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.

Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477

Treatment of Kearns-Sayre syndrome with coenzyme Q10.

Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S
Neurology 1986 Jan;36(1):45-53. doi: 10.1212/wnl.36.1.45. PMID: 3941783

See all (23)

Recent clinical studies

Etiology

Efficacy and safety of minocycline in retinitis pigmentosa: a prospective, open-label, single-arm trial.

Chen Y, Pan Y, Xie Y, Shi Y, Lu Y, Xia Y, Su W, Chen X, Li Z, Wang M, Miao S, Yang Y, Jin C, Luo G, Long S, Xiao H, Huang C, Zhang J, Liang D
Signal Transduct Target Ther 2024 Dec 4;9(1):339. doi: 10.1038/s41392-024-02037-2. PMID: 39627217 Free PMC Article

Functional Vision in Patients With Biallelic USH2A Variants.

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

Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.

Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH
Pharm Res 2019 Jan 7;36(2):34. doi: 10.1007/s11095-018-2564-5. PMID: 30617669 Free PMC Article

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871 Free PMC Article

Causes of blindness and partial sight in the Bradford Metropolitan District from 1980 to 1985.

Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670

See all (186)

Diagnosis

Unilateral retinitis pigmentosa associated with cystoid macular oedema.

Mishra C, Sen S, Kannan NB, Ramasamy K
Natl Med J India 2023 May-Jun;36(3):170-172. doi: 10.25259/NMJI_651_20. PMID: 38692617

Mitochondrial DNA mutations in renal disease: an overview.

Govers LP, Toka HR, Hariri A, Walsh SB, Bockenhauer D
Pediatr Nephrol 2021 Jan;36(1):9-17. Epub 2020 Jan 10 doi: 10.1007/s00467-019-04404-6. PMID: 31925537 Free PMC Article

The eye involvement in monogenic autoinflammatory diseases: literature review and update.

Sota J, Vitale A, Fabiani C, Frediani B, Rigante D, Tosi GM, Zannin ME, Cantarini L
Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):44-53. Epub 2018 May 3 PMID: 29742057

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Coats'-type retinitis pigmentosa.

Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

See all (195)

Therapy

Efficacy and safety of minocycline in retinitis pigmentosa: a prospective, open-label, single-arm trial.

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

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.

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

Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.

Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH
Pharm Res 2019 Jan 7;36(2):34. doi: 10.1007/s11095-018-2564-5. PMID: 30617669 Free PMC Article

An analysis of observer-rated functional vision in patients implanted with the Argus II Retinal Prosthesis System at three years.

Geruschat DR, Richards TP, Arditi A, da Cruz L, Dagnelie G, Dorn JD, Duncan JL, Ho AC, Olmos de Koo LC, Sahel JA, Stanga PE, Thumann G, Wang V, Greenberg RJ
Clin Exp Optom 2016 May;99(3):227-32. Epub 2016 Jan 24 doi: 10.1111/cxo.12359. PMID: 26804484 Free PMC Article

See all (49)

Prognosis

Correlation between neutrophil-to-lymphocyte ratio and clinical manifestations and complications of retinitis pigmentosa.

He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305

Research progress on human genes involved in the pathogenesis of glaucoma (Review).

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: 29845210 Free PMC Article

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Causes of blindness and partial sight in the Bradford Metropolitan District from 1980 to 1985.

Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670

Coats'-type retinitis pigmentosa.

Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

See all (82)

Clinical prediction guides

Clinical features of patients with mutations in genes for nanophthalmos.

Li X, Xiao H, Su Y, Xiao X, Li S, Lin S, Fang L, Sun W, Wang P, Hejtmancik JF, Yu M, Chen L, Zhang Q, Liu X
Br J Ophthalmol 2024 Nov 22;108(12):1679-1687. doi: 10.1136/bjo-2023-324931. PMID: 38749530

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.

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

Functional Vision in Patients With Biallelic USH2A Variants.

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Gnanasekaran H, Chandrasekhar SP, Kandeeban S, Periyasamy P, Bhende M, Khetan V, Gupta N, Kabra M, Namboothri S, Sen P, Sripriya S
Clin Genet 2023 Oct;104(4):443-460. Epub 2023 Jul 11 doi: 10.1111/cge.14398. PMID: 37431782

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

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: 35816039 Free PMC Article

See all (136)

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

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

Cost-of-illness studies of inherited retinal diseases: a systematic review.

Ng QX, Ong C, Yaow CYL, Chan HW, Thumboo J, Wang Y, Koh GCH
Orphanet J Rare Dis 2024 Feb 29;19(1):93. doi: 10.1186/s13023-024-03099-9. PMID: 38424595 Free PMC Article

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096 Free PMC Article

See all (3)

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Retinitis pigmentosa 36(RP36)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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