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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.
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
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.
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
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P
PLoS One 2018;13(12):e0207958. Epub 2018 Dec 13 doi: 10.1371/journal.pone.0207958. PMID: 30543658Free PMC Article

Recent clinical studies

Etiology

Foveal Hypoplasia in CRB1-Related Retinopathies.
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
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Macular diseases in Ibadan, Nigeria.
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
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
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

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
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
No Light Perception Vision in Neuro-Ophthalmology Practice.
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
Genetics of Hearing Loss: Syndromic.
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

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Acupuncture for retinitis pigmentosa: study protocol for a randomised, sham-controlled trial.
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
Retinal vessel oxygen saturation and vessel diameter in retinitis pigmentosa at various ages.
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
Pharmacological approaches to retinitis pigmentosa: A laboratory perspective.
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
Hallervorden-Spatz syndrome and brain iron metabolism.
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
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
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
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
No Light Perception Vision in Neuro-Ophthalmology Practice.
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
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M
Am J Ophthalmol 2021 May;225:95-107. Epub 2020 Dec 11 doi: 10.1016/j.ajo.2020.11.022. PMID: 33309813Free PMC Article
Mathematical and computational models of the retina in health, development and disease.
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

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D, Won D, Lee ST, Lee CS, Lee J, Lim HT, Chung SA, Song WK, Kim M, Kim SS, Shin S, Choi JR, Sangermano R, Byeon SH, Bujakowska KM, Han J
JAMA Netw Open 2024 May 1;7(5):e2414198. doi: 10.1001/jamanetworkopen.2024.14198. PMID: 38819824Free PMC Article
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
Foveal Hypoplasia in CRB1-Related Retinopathies.
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
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
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
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

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
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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