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Retinitis pigmentosa 93(RP93)

MedGen UID:
1810905
•Concept ID:
C5676970
•
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 93; RP93
 
Gene (location): CC2D2A (4p15.32)
 
Monarch Initiative: MONDO:0030797
OMIM®: 619845

Definition

Retinitis pigmentosa-93 (RP93) is characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia (Mejecase et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
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
Undetectable electroretinogram
MedGen UID:
383742
•Concept ID:
C1855685
•
Finding
Lack of any response to stimulation upon electroretinography.
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
Retinal dots
MedGen UID:
1671040
•Concept ID:
C4732809
•
Finding
Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G
Prenat Diagn 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448. PMID: 12424774

Recent clinical studies

Etiology

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
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
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M
Neurol India 2002 Jun;50(2):162-7. PMID: 12134180
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Diagnosis

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
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
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
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M
Neurol India 2002 Jun;50(2):162-7. PMID: 12134180

Therapy

Microperimetry as an Outcome Measure in RPGR-associated Retinitis Pigmentosa Clinical Trials.
Taylor LJ, Josan AS, Jolly JK, MacLaren RE
Transl Vis Sci Technol 2023 Jun 1;12(6):4. doi: 10.1167/tvst.12.6.4. PMID: 37294702Free PMC Article
Intravenous Infusion of Umbilical Cord Mesenchymal Stem Cells Maintains and Partially Improves Visual Function in Patients with Advanced Retinitis Pigmentosa.
Zhao T, Liang Q, Meng X, Duan P, Wang F, Li S, Liu Y, Yin ZQ
Stem Cells Dev 2020 Aug;29(16):1029-1037. Epub 2020 Jul 15 doi: 10.1089/scd.2020.0037. PMID: 32679004
Slowing the degenerative process, long lasting effect of hyperbaric oxygen therapy in retinitis pigmentosa.
Vingolo EM, Rocco M, Grenga P, Salvatore S, Pelaia P
Graefes Arch Clin Exp Ophthalmol 2008 Jan;246(1):93-8. Epub 2007 Aug 3 doi: 10.1007/s00417-007-0652-z. PMID: 17674017
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860
Retinitis pigmentosa and retinal neovascularization.
Uliss AE, Gregor ZJ, Bird AC
Ophthalmology 1986 Dec;93(12):1599-603. doi: 10.1016/s0161-6420(86)33539-5. PMID: 2433659

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
Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema.
Iovino C, Au A, Hilely A, Violanti S, Peiretti E, Gorin MB, Sarraf D
Invest Ophthalmol Vis Sci 2019 Dec 2;60(15):5000-5006. doi: 10.1167/iovs.19-27300. PMID: 31794599
Focal Choroidal Excavation in Retinal Dystrophies.
Braimah IZ, Rapole S, Dumpala S, Chhablani J
Semin Ophthalmol 2018;33(2):161-166. Epub 2016 Aug 17 doi: 10.1080/08820538.2016.1182634. PMID: 27533784
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
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Clinical prediction guides

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
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
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
Retinitis pigmentosa: clinical observations and correlations.
Pruett RC
Trans Am Ophthalmol Soc 1983;81:693-735. PMID: 6676982Free PMC Article

Recent systematic reviews

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: 38424595Free PMC Article

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