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Retinal dystrophy, early-onset, with or without pituitary dysfunction

MedGen UID:
907424
•Concept ID:
C4225436
•
Disease or Syndrome
Synonym: RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION
 
OMIM®: 610125

Professional guidelines

PubMed

Diagnosis and management of diabetes insipidus for the internist: an update.
Christ-Crain M, Winzeler B, Refardt J
J Intern Med 2021 Jul;290(1):73-87. Epub 2021 Mar 13 doi: 10.1111/joim.13261. PMID: 33713498
Diagnosis and Management of Disorders of Body Tonicity-Hyponatremia and Hypernatremia: Core Curriculum 2020.
Seay NW, Lehrich RW, Greenberg A
Am J Kidney Dis 2020 Feb;75(2):272-286. Epub 2019 Oct 10 doi: 10.1053/j.ajkd.2019.07.014. PMID: 31606238
Causes, diagnosis, and treatment of central precocious puberty.
Latronico AC, Brito VN, Carel JC
Lancet Diabetes Endocrinol 2016 Mar;4(3):265-274. Epub 2016 Feb 4 doi: 10.1016/S2213-8587(15)00380-0. PMID: 26852255

Recent clinical studies

Etiology

Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.
Cerbone M, Visser J, Bulwer C, Ederies A, Vallabhaneni K, Ball S, Kamaly-Asl I, Grossman A, Gleeson H, Korbonits M, Nanduri V, Tziaferi V, Jacques T, Spoudeas HA
Lancet Child Adolesc Health 2021 Sep;5(9):662-676. Epub 2021 Jun 30 doi: 10.1016/S2352-4642(21)00088-2. PMID: 34214482
Pituitary disease and pregnancy.
Valassi E
Endocrinol Diabetes Nutr (Engl Ed) 2021 Mar;68(3):184-195. Epub 2021 Jun 12 doi: 10.1016/j.endien.2020.07.002. PMID: 34167698
COVID-19 and the pituitary.
Frara S, Allora A, Castellino L, di Filippo L, Loli P, Giustina A
Pituitary 2021 Jun;24(3):465-481. Epub 2021 May 3 doi: 10.1007/s11102-021-01148-1. PMID: 33939057Free PMC Article
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Radiation-induced hypopituitarism.
Darzy KH
Curr Opin Endocrinol Diabetes Obes 2013 Aug;20(4):342-53. doi: 10.1097/MED.0b013e3283631820. PMID: 23807607

Diagnosis

Hypophysitis, the Growing Spectrum of a Rare Pituitary Disease.
Langlois F, Varlamov EV, Fleseriu M
J Clin Endocrinol Metab 2022 Jan 1;107(1):10-28. doi: 10.1210/clinem/dgab672. PMID: 34528683Free PMC Article
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.
Cerbone M, Visser J, Bulwer C, Ederies A, Vallabhaneni K, Ball S, Kamaly-Asl I, Grossman A, Gleeson H, Korbonits M, Nanduri V, Tziaferi V, Jacques T, Spoudeas HA
Lancet Child Adolesc Health 2021 Sep;5(9):662-676. Epub 2021 Jun 30 doi: 10.1016/S2352-4642(21)00088-2. PMID: 34214482
Diagnosis and management of hypopituitarism.
Yeliosof O, Gangat M
Curr Opin Pediatr 2019 Aug;31(4):531-536. doi: 10.1097/MOP.0000000000000779. PMID: 31082937
Radiation-induced hypopituitarism.
Darzy KH
Curr Opin Endocrinol Diabetes Obes 2013 Aug;20(4):342-53. doi: 10.1097/MED.0b013e3283631820. PMID: 23807607

Therapy

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480Free PMC Article
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Hypopituitarism.
Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E
Lancet 2007 Apr 28;369(9571):1461-1470. doi: 10.1016/S0140-6736(07)60673-4. PMID: 17467517
Prolactin and autoimmunity.
De Bellis A, Bizzarro A, Pivonello R, Lombardi G, Bellastella A
Pituitary 2005;8(1):25-30. doi: 10.1007/s11102-005-5082-5. PMID: 16411065
Delayed adolescence.
Prader A
Clin Endocrinol Metab 1975 Mar;4(1):143-55. doi: 10.1016/s0300-595x(75)80037-5. PMID: 166776

Prognosis

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
COVID-19 and the pituitary.
Frara S, Allora A, Castellino L, di Filippo L, Loli P, Giustina A
Pituitary 2021 Jun;24(3):465-481. Epub 2021 May 3 doi: 10.1007/s11102-021-01148-1. PMID: 33939057Free PMC Article
Leber Congenital Amaurosis.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Delayed adolescence.
Prader A
Clin Endocrinol Metab 1975 Mar;4(1):143-55. doi: 10.1016/s0300-595x(75)80037-5. PMID: 166776

Clinical prediction guides

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543Free PMC Article
Hypophysitis, the Growing Spectrum of a Rare Pituitary Disease.
Langlois F, Varlamov EV, Fleseriu M
J Clin Endocrinol Metab 2022 Jan 1;107(1):10-28. doi: 10.1210/clinem/dgab672. PMID: 34528683Free PMC Article
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
MicroRNAs in pituitary tumors.
Wierinckx A, Roche M, Legras-Lachuer C, Trouillas J, Raverot G, Lachuer J
Mol Cell Endocrinol 2017 Nov 15;456:51-61. Epub 2017 Jan 13 doi: 10.1016/j.mce.2017.01.021. PMID: 28089822
Prolactin and autoimmunity.
De Bellis A, Bizzarro A, Pivonello R, Lombardi G, Bellastella A
Pituitary 2005;8(1):25-30. doi: 10.1007/s11102-005-5082-5. PMID: 16411065

Recent systematic reviews

Yoga, mindfulness-based stress reduction and stress-related physiological measures: A meta-analysis.
Pascoe MC, Thompson DR, Ski CF
Psychoneuroendocrinology 2017 Dec;86:152-168. Epub 2017 Aug 30 doi: 10.1016/j.psyneuen.2017.08.008. PMID: 28963884
The impact of drugs on male fertility: a review.
Semet M, Paci M, Saïas-Magnan J, Metzler-Guillemain C, Boissier R, Lejeune H, Perrin J
Andrology 2017 Jul;5(4):640-663. Epub 2017 Jun 16 doi: 10.1111/andr.12366. PMID: 28622464
Diurnal cortisol slopes and mental and physical health outcomes: A systematic review and meta-analysis.
Adam EK, Quinn ME, Tavernier R, McQuillan MT, Dahlke KA, Gilbert KE
Psychoneuroendocrinology 2017 Sep;83:25-41. Epub 2017 May 24 doi: 10.1016/j.psyneuen.2017.05.018. PMID: 28578301Free PMC Article
Effects of aging on the male reproductive system.
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
Biological and psychosocial predictors of postpartum depression: systematic review and call for integration.
Yim IS, Tanner Stapleton LR, Guardino CM, Hahn-Holbrook J, Dunkel Schetter C
Annu Rev Clin Psychol 2015;11:99-137. doi: 10.1146/annurev-clinpsy-101414-020426. PMID: 25822344Free PMC Article

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