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Retinitis pigmentosa 48(RP48)

MedGen UID:
462540
Concept ID:
C3151190
Disease or Syndrome
Synonyms: GUCA1B-Related Retinitis Pigmentosa; RP48
 
Gene (location): GUCA1B (6p21.1)
 
Monarch Initiative: MONDO:0013447
OMIM®: 613827

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B 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.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Suppiej A, Ceccato C, Tzekov R, Cermakova I, Parmeggiani F, Bellucci G, Salvetti M, Zesiewicz T, Ristori G, Romano S
Cerebellum 2024 Dec;23(6):2226-2235. Epub 2024 Jul 8 doi: 10.1007/s12311-024-01714-w. PMID: 38976217Free PMC Article
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
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article

Recent clinical studies

Etiology

Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
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
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209

Diagnosis

Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
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
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Koffler T, Ushakov K, Avraham KB
Otolaryngol Clin North Am 2015 Dec;48(6):1041-61. Epub 2015 Oct 9 doi: 10.1016/j.otc.2015.07.007. PMID: 26443487Free PMC Article
Acton JH, Greenstein VC
Can J Ophthalmol 2013 Oct;48(5):358-63. Epub 2013 Sep 2 doi: 10.1016/j.jcjo.2013.03.021. PMID: 24093180Free PMC Article

Therapy

Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article
Garcia CA
Ann N Y Acad Sci 1983;411:48-51. doi: 10.1111/j.1749-6632.1983.tb47285.x. PMID: 6349496

Prognosis

Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209
Roberts PA, Gaffney EA, Luthert PJ, Foss AJE, Byrne HM
Prog Retin Eye Res 2016 Jul;53:48-69. Epub 2016 Apr 7 doi: 10.1016/j.preteyeres.2016.04.001. PMID: 27063291
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Clinical prediction guides

Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
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
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article

Recent systematic reviews

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article

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