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RCBTB1-related retinopathy(RDEOA)

MedGen UID:
934647
•Concept ID:
C4310680
•
Disease or Syndrome
Synonym: Retinal dystrophy with or without extraocular anomalies
 
Gene (location): RCBTB1 (13q14.2)
 
Monarch Initiative: MONDO:0014955
OMIM®: 617175

Definition

An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present. [from NCI]

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
See: Feature record | Search on this feature
Secondary amenorrhea
MedGen UID:
115919
•Concept ID:
C0232940
•
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
See: Feature record | Search on this feature
Intellectual disability, mild
MedGen UID:
10044
•Concept ID:
C0026106
•
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
See: Feature record | Search on this feature
Pulmonary fibrosis
MedGen UID:
11028
•Concept ID:
C0034069
•
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
See: Feature record | Search on this feature
Goiter
MedGen UID:
42270
•Concept ID:
C0018021
•
Disease or Syndrome
An enlargement of the thyroid gland.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Retinal dystrophy
MedGen UID:
208903
•Concept ID:
C0854723
•
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRCBTB1-related retinopathy

Professional guidelines

PubMed

Central serous chorioretinopathy: An evidence-based treatment guideline.
Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF
Prog Retin Eye Res 2024 Jul;101:101236. Epub 2024 Feb 1 doi: 10.1016/j.preteyeres.2024.101236. PMID: 38301969
American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.
Blonde L, Umpierrez GE, Reddy SS, McGill JB, Berga SL, Bush M, Chandrasekaran S, DeFronzo RA, Einhorn D, Galindo RJ, Gardner TW, Garg R, Garvey WT, Hirsch IB, Hurley DL, Izuora K, Kosiborod M, Olson D, Patel SB, Pop-Busui R, Sadhu AR, Samson SL, Stec C, Tamborlane WV Jr, Tuttle KR, Twining C, Vella A, Vellanki P, Weber SL
Endocr Pract 2022 Oct;28(10):923-1049. Epub 2022 Aug 11 doi: 10.1016/j.eprac.2022.08.002. PMID: 35963508Free PMC Article
ACOG Practice Bulletin No. 201: Pregestational Diabetes Mellitus.
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics
Obstet Gynecol 2018 Dec;132(6):e228-e248. doi: 10.1097/AOG.0000000000002960. PMID: 30461693

Recent clinical studies

Etiology

Tamoxifen retinopathy: A comprehensive review.
Tenney S, Oboh-Weilke A, Wagner D, Chen MY
Surv Ophthalmol 2024 Jan-Feb;69(1):42-50. Epub 2023 Jul 22 doi: 10.1016/j.survophthal.2023.07.003. PMID: 37482306
An update on autoimmune retinopathy.
Dutta Majumder P, Marchese A, Pichi F, Garg I, Agarwal A
Indian J Ophthalmol 2020 Sep;68(9):1829-1837. doi: 10.4103/ijo.IJO_786_20. PMID: 32823399Free PMC Article
Autoimmune Retinopathy.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:223-226. doi: 10.1007/978-3-319-95046-4_47. PMID: 30578520
Paraneoplastic syndromes in ophthalmology.
Bussat A, Langner-Lemercier S, Salmon A, Mouriaux F
J Fr Ophtalmol 2018 May;41(5):e181-e185. Epub 2018 May 18 doi: 10.1016/j.jfo.2018.03.002. PMID: 29784239
Hydroxychloroquine retinopathy.
Yusuf IH, Sharma S, Luqmani R, Downes SM
Eye (Lond) 2017 Jun;31(6):828-845. Epub 2017 Mar 10 doi: 10.1038/eye.2016.298. PMID: 28282061Free PMC Article

Diagnosis

Tamoxifen retinopathy: A comprehensive review.
Tenney S, Oboh-Weilke A, Wagner D, Chen MY
Surv Ophthalmol 2024 Jan-Feb;69(1):42-50. Epub 2023 Jul 22 doi: 10.1016/j.survophthal.2023.07.003. PMID: 37482306
Decompression retinopathy.
Ferro Desideri L, Anguita R
J Fr Ophtalmol 2023 Nov;46(9):1127-1128. Epub 2023 Jul 20 doi: 10.1016/j.jfo.2023.05.004. PMID: 37481452
Avascular Peripheral Retina in Infants.
Özdek Ş, Özdemir Zeydanlı E, Baumal C, Hoyek S, Patel N, Berrocal A, Lopez-Cañizares A, Al-Khersan H, Kusaka S, Mano F, Jalali S, Lepore D, Akar S
Turk J Ophthalmol 2023 Feb 24;53(1):44-57. doi: 10.4274/tjo.galenos.2022.76436. PMID: 36847634Free PMC Article
An update on autoimmune retinopathy.
Dutta Majumder P, Marchese A, Pichi F, Garg I, Agarwal A
Indian J Ophthalmol 2020 Sep;68(9):1829-1837. doi: 10.4103/ijo.IJO_786_20. PMID: 32823399Free PMC Article
Solar retinopathy.
Berus T, Turno-Krecicka A, Kwiatkowska E
Klin Oczna 2016 Sep;117(4):271-274. PMID: 29727117

Therapy

Severe Tamoxifen Retinopathy.
Kumari S, Virani B, Chawla R
Ophthalmol Retina 2023 Dec;7(12):1130. Epub 2023 Oct 20 doi: 10.1016/j.oret.2023.09.018. PMID: 37865909
Tamoxifen retinopathy.
Bazvand F, Mahdizad Z, Mohammadi N, Shahi F, Mirghorbani M, Riazi-Esfahani H, Modjtahedi BS
Surv Ophthalmol 2023 Jul-Aug;68(4):628-640. Epub 2023 Feb 11 doi: 10.1016/j.survophthal.2023.02.003. PMID: 36781026
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Hydroxychloroquine retinopathy.
Yusuf IH, Sharma S, Luqmani R, Downes SM
Eye (Lond) 2017 Jun;31(6):828-845. Epub 2017 Mar 10 doi: 10.1038/eye.2016.298. PMID: 28282061Free PMC Article
Solar retinopathy.
Berus T, Turno-Krecicka A, Kwiatkowska E
Klin Oczna 2016 Sep;117(4):271-274. PMID: 29727117

Prognosis

Hydroxychloroquine retinopathy.
Yusuf IH, Sharma S, Luqmani R, Downes SM
Eye (Lond) 2017 Jun;31(6):828-845. Epub 2017 Mar 10 doi: 10.1038/eye.2016.298. PMID: 28282061Free PMC Article
Incontinentia Pigmenti: A Comprehensive Review and Update.
Swinney CC, Han DP, Karth PA
Ophthalmic Surg Lasers Imaging Retina 2015 Jun;46(6):650-7. doi: 10.3928/23258160-20150610-09. PMID: 26114846
Canthaxanthin retinopathy: long-term observations.
Hueber A, Rosentreter A, Severin M
Ophthalmic Res 2011;46(2):103-6. Epub 2011 Feb 23 doi: 10.1159/000323813. PMID: 21346389
Ocular toxicity of hydroxychloroquine.
Tehrani R, Ostrowski RA, Hariman R, Jay WM
Semin Ophthalmol 2008 May-Jun;23(3):201-9. doi: 10.1080/08820530802049962. PMID: 18432546
Eclipse retinopathy.
Dhir SP, Gupta A, Jain IS
Br J Ophthalmol 1981 Jan;65(1):42-5. doi: 10.1136/bjo.65.1.42. PMID: 7448156Free PMC Article

Clinical prediction guides

Hydroxychloroquine Dose and Risk for Incident Retinopathy : A Cohort Study.
Melles RB, Jorge AM, Marmor MF, Zhou B, Conell C, Niu J, McCormick N, Zhang Y, Choi HK
Ann Intern Med 2023 Feb;176(2):166-173. Epub 2023 Jan 17 doi: 10.7326/M22-2453. PMID: 36645889
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
The diagnostic usefulness of the negative electroretinogram.
Fuente García C, González-López JJ, Muñoz-Negrete FJ, Rebolleda G
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):126-135. Epub 2017 Dec 6 doi: 10.1016/j.oftal.2017.10.006. PMID: 29198644
International photographic classification and grading system for myopic maculopathy.
Ohno-Matsui K, Kawasaki R, Jonas JB, Cheung CM, Saw SM, Verhoeven VJ, Klaver CC, Moriyama M, Shinohara K, Kawasaki Y, Yamazaki M, Meuer S, Ishibashi T, Yasuda M, Yamashita H, Sugano A, Wang JJ, Mitchell P, Wong TY; META-analysis for Pathologic Myopia (META-PM) Study Group
Am J Ophthalmol 2015 May;159(5):877-83.e7. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.022. PMID: 25634530
Noninfectious retinopathy.
Harkins T
Optom Vis Sci 1995 May;72(5):302-4. doi: 10.1097/00006324-199505000-00005. PMID: 7667005

Recent systematic reviews

Global Prevalence of Diabetic Retinopathy and Projection of Burden through 2045: Systematic Review and Meta-analysis.
Teo ZL, Tham YC, Yu M, Chee ML, Rim TH, Cheung N, Bikbov MM, Wang YX, Tang Y, Lu Y, Wong IY, Ting DSW, Tan GSW, Jonas JB, Sabanayagam C, Wong TY, Cheng CY
Ophthalmology 2021 Nov;128(11):1580-1591. Epub 2021 May 1 doi: 10.1016/j.ophtha.2021.04.027. PMID: 33940045
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
AGE-RELATED MACULAR DEGENERATION.
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article
Retinal detachment.
Steel D
BMJ Clin Evid 2014 Mar 3;2014 PMID: 24807890Free PMC Article
Global prevalence and major risk factors of diabetic retinopathy.
Yau JW, Rogers SL, Kawasaki R, Lamoureux EL, Kowalski JW, Bek T, Chen SJ, Dekker JM, Fletcher A, Grauslund J, Haffner S, Hamman RF, Ikram MK, Kayama T, Klein BE, Klein R, Krishnaiah S, Mayurasakorn K, O'Hare JP, Orchard TJ, Porta M, Rema M, Roy MS, Sharma T, Shaw J, Taylor H, Tielsch JM, Varma R, Wang JJ, Wang N, West S, Xu L, Yasuda M, Zhang X, Mitchell P, Wong TY; Meta-Analysis for Eye Disease (META-EYE) Study Group
Diabetes Care 2012 Mar;35(3):556-64. Epub 2012 Feb 1 doi: 10.2337/dc11-1909. PMID: 22301125Free PMC Article

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