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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

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
Chen ZJ, Lin KH, Lee SH, Shen RJ, Feng ZK, Wang XF, Huang XF, Huang ZQ, Jin ZB
Clin Exp Ophthalmol 2020 May;48(4):486-499. Epub 2020 Jan 20 doi: 10.1111/ceo.13708. PMID: 31872526

Recent clinical studies

Etiology

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
Oluleye TS, Babalola YO, Majekodunmi OI, Ijaduola MA
Niger J Clin Pract 2021 Mar;24(3):341-344. doi: 10.4103/njcp.njcp_408_20. PMID: 33723107
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

Diagnosis

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
Garg A, Margolin E, Micieli JA
J Neuroophthalmol 2022 Mar 1;42(1):e225-e229. Epub 2021 Jul 27 doi: 10.1097/WNO.0000000000001340. PMID: 34334760
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2379-2387. Epub 2021 Apr 19 doi: 10.1007/s00417-021-05172-6. PMID: 33876278Free 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

Therapy

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
Huang H, Wang J, Li H, Lei R, Zou W, Huang Q, Gao N, Zheng Y
BMJ Open 2021 Nov 12;11(11):e049245. doi: 10.1136/bmjopen-2021-049245. PMID: 34772749Free PMC Article
Zong Y, Lin L, Yi C, Huang X, Fu Y, Dong Y, Qian X, Li Y, Gao Q
Graefes Arch Clin Exp Ophthalmol 2016 Feb;254(2):243-52. Epub 2015 May 8 doi: 10.1007/s00417-015-3039-6. PMID: 25952041
Guadagni V, Novelli E, Piano I, Gargini C, Strettoi E
Prog Retin Eye Res 2015 Sep;48:62-81. Epub 2015 Jun 22 doi: 10.1016/j.preteyeres.2015.06.005. PMID: 26113212
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S
Indian J Ophthalmol 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. PMID: 37322672Free PMC Article
Hadalin V, Buscarino M, Sajovic J, Meglič A, Jarc-Vidmar M, Hawlina M, Volk M, Fakin A
Int J Mol Sci 2023 Feb 14;24(4) doi: 10.3390/ijms24043840. PMID: 36835250Free PMC Article
Garg A, Margolin E, Micieli JA
J Neuroophthalmol 2022 Mar 1;42(1):e225-e229. Epub 2021 Jul 27 doi: 10.1097/WNO.0000000000001340. PMID: 34334760
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium
JAMA Ophthalmol 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649Free PMC Article
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

Clinical prediction guides

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
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F
Int J Mol Sci 2019 Dec 20;21(1) doi: 10.3390/ijms21010086. PMID: 31877679Free PMC Article
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

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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