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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

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
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
Unusual retinopathy in a child with severe combined immune deficiency.
Gerth-Kahlert C, Tiwari A, Hauri-Hohl MM, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W
Ophthalmic Genet 2018 Jan-Feb;39(1):92-94. Epub 2017 Aug 16 doi: 10.1080/13816810.2017.1350721. PMID: 28812413
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Diagnosis

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
Teaching NeuroImages: Kearns-Sayre syndrome.
Nguyen MTB, Micieli J, Margolin E
Neurology 2019 Jan 29;92(5):e519-e520. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006861. PMID: 30635486
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
Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa.
Akiyama M, Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T
Acta Ophthalmol 2014 May;92(3):e229-34. doi: 10.1111/aos.12293. PMID: 24868583
Long-term results of omental transplantation in chronic occlusive arterial disease (Buerger's disease) and retinal avascular diseases (retinitis pigmentosa).
Agarwal VK
Int Surg 2007 May-Jun;92(3):174-83. PMID: 17972474
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

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
Unusual retinopathy in a child with severe combined immune deficiency.
Gerth-Kahlert C, Tiwari A, Hauri-Hohl MM, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W
Ophthalmic Genet 2018 Jan-Feb;39(1):92-94. Epub 2017 Aug 16 doi: 10.1080/13816810.2017.1350721. PMID: 28812413
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
Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa.
Akiyama M, Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T
Acta Ophthalmol 2014 May;92(3):e229-34. doi: 10.1111/aos.12293. PMID: 24868583

Clinical prediction guides

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
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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