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Retinitis pigmentosa 92(RP92)

MedGen UID:
1794232
•Concept ID:
C5562022
•
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 92; RP92
 
Gene (location): HKDC1 (10q22.1)
 
Monarch Initiative: MONDO:0030619
OMIM®: 619614

Definition

Retinitis pigmentosa-92 (RP92) is characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Patients show abnormal pigmentation of the retina and have reduced scotopic responses on electroretinography (Zhang et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

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
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.
See: Feature record | Search on this feature
Paracentral scotoma
MedGen UID:
75740
•Concept ID:
C0271197
•
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
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
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
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
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
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

Recent clinical studies

Etiology

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
Thicknesses of the retina and choroid in children with retinitis pigmentosa.
Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
Cataract surgery in retinitis pigmentosa.
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
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
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Diagnosis

Therapy with voretigene neparvovec. How to measure success?
Stingl K, Kempf M, Jung R, Kortüm F, Righetti G, Reith M, Dimopoulos S, Ott S, Kohl S, Stingl K
Prog Retin Eye Res 2023 Jan;92:101115. Epub 2022 Sep 10 doi: 10.1016/j.preteyeres.2022.101115. PMID: 36096933
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free 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
Genetic Factors of Diabetes.
Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) 2016 Dec;64(Suppl 1):157-160. Epub 2017 Jan 12 doi: 10.1007/s00005-016-0432-8. PMID: 28083605
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article

Therapy

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
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O
Photodiagnosis Photodyn Ther 2023 Jun;42:103554. Epub 2023 Apr 6 doi: 10.1016/j.pdpdt.2023.103554. PMID: 37030435
Association of Vitamin A Supplementation With Disease Course in Children With Retinitis Pigmentosa.
Berson EL, Weigel-DiFranco C, Rosner B, Gaudio AR, Sandberg MA
JAMA Ophthalmol 2018 May 1;136(5):490-495. doi: 10.1001/jamaophthalmol.2018.0590. PMID: 29596553Free PMC Article
Asteroid hyalosis--current state of knowledge.
Jabłońska A, Ciszewska J, Kęcik D
Klin Oczna 2014;116(4):272-6. PMID: 25906639
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
Cataract surgery in retinitis pigmentosa.
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
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article

Clinical prediction guides

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Cataract surgery in retinitis pigmentosa.
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
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article

Recent systematic reviews

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

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