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Microphthalmia-brain atrophy syndrome(MOBA; MCOPS10)

MedGen UID:
370809
•Concept ID:
C1970013
•
Disease or Syndrome
Synonyms: Microphthalmia and brain atrophy; Microphthalmia syndromic 10
SNOMED CT: Microphthalmia with brain atrophy syndrome (720010009); Syndromic microphthalmia type 10 (720010009); MOBA syndrome (720010009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012638
OMIM®: 611222
Orphanet: ORPHA77299

Definition

Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrophthalmia-brain atrophy syndrome
Follow this link to review classifications for Microphthalmia-brain atrophy syndrome in Orphanet.

Professional guidelines

PubMed

Osteosarcopenia: epidemiology, diagnosis, and treatment-facts and numbers.
Kirk B, Zanker J, Duque G
J Cachexia Sarcopenia Muscle 2020 Jun;11(3):609-618. Epub 2020 Mar 22 doi: 10.1002/jcsm.12567. PMID: 32202056Free PMC Article
Muscle Weakness in Adults: Evaluation and Differential Diagnosis.
Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642
Sarcopenic obesity in older adults: aetiology, epidemiology and treatment strategies.
Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article

Recent clinical studies

Etiology

CO2-Laser therapy and Genitourinary Syndrome of Menopause: A Systematic Review and Meta-Analysis.
Filippini M, Porcari I, Ruffolo AF, Casiraghi A, Farinelli M, Uccella S, Franchi M, Candiani M, Salvatore S
J Sex Med 2022 Mar;19(3):452-470. Epub 2022 Jan 29 doi: 10.1016/j.jsxm.2021.12.010. PMID: 35101378
Endoscopic features and clinical importance of autoimmune gastritis.
Kamada T, Maruyama Y, Monobe Y, Haruma K
Dig Endosc 2022 May;34(4):700-713. Epub 2021 Nov 10 doi: 10.1111/den.14175. PMID: 34674318
Sarcopenia - Molecular mechanisms and open questions.
Wiedmer P, Jung T, Castro JP, Pomatto LCD, Sun PY, Davies KJA, Grune T
Ageing Res Rev 2021 Jan;65:101200. Epub 2020 Oct 29 doi: 10.1016/j.arr.2020.101200. PMID: 33130247
High prevalence of geriatric syndromes in older adults.
Sanford AM, Morley JE, Berg-Weger M, Lundy J, Little MO, Leonard K, Malmstrom TK
PLoS One 2020;15(6):e0233857. Epub 2020 Jun 5 doi: 10.1371/journal.pone.0233857. PMID: 32502177Free PMC Article
Osteosarcopenia: epidemiology, diagnosis, and treatment-facts and numbers.
Kirk B, Zanker J, Duque G
J Cachexia Sarcopenia Muscle 2020 Jun;11(3):609-618. Epub 2020 Mar 22 doi: 10.1002/jcsm.12567. PMID: 32202056Free PMC Article

Diagnosis

Genitourinary Syndrome of Menopause.
Cox S, Nasseri R, Rubin RS, Santiago-Lastra Y
Med Clin North Am 2023 Mar;107(2):357-369. doi: 10.1016/j.mcna.2022.10.017. PMID: 36759102
CO2-Laser therapy and Genitourinary Syndrome of Menopause: A Systematic Review and Meta-Analysis.
Filippini M, Porcari I, Ruffolo AF, Casiraghi A, Farinelli M, Uccella S, Franchi M, Candiani M, Salvatore S
J Sex Med 2022 Mar;19(3):452-470. Epub 2022 Jan 29 doi: 10.1016/j.jsxm.2021.12.010. PMID: 35101378
The 2020 genitourinary syndrome of menopause position statement of The North American Menopause Society.
The NAMS 2020 GSM Position Statement Editorial Panel
Menopause 2020 Sep;27(9):976-992. doi: 10.1097/GME.0000000000001609. PMID: 32852449
Update on posterior cortical atrophy.
Holden SK, Bettcher BM, Pelak VS
Curr Opin Neurol 2020 Feb;33(1):68-73. doi: 10.1097/WCO.0000000000000767. PMID: 31688098Free PMC Article
Posterior Cortical Atrophy.
Schott JM, Crutch SJ
Continuum (Minneap Minn) 2019 Feb;25(1):52-75. doi: 10.1212/CON.0000000000000696. PMID: 30707187Free PMC Article

Therapy

Thyroid Hormone Transporters.
Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE
Endocr Rev 2020 Apr 1;41(2) doi: 10.1210/endrev/bnz008. PMID: 31754699
Sexual Health in Menopause.
Scavello I, Maseroli E, Di Stasi V, Vignozzi L
Medicina (Kaunas) 2019 Sep 2;55(9) doi: 10.3390/medicina55090559. PMID: 31480774Free PMC Article
Sarcopenia.
Tournadre A, Vial G, Capel F, Soubrier M, Boirie Y
Joint Bone Spine 2019 May;86(3):309-314. Epub 2018 Aug 8 doi: 10.1016/j.jbspin.2018.08.001. PMID: 30098424
Sarcopenia in Asia: consensus report of the Asian Working Group for Sarcopenia.
Chen LK, Liu LK, Woo J, Assantachai P, Auyeung TW, Bahyah KS, Chou MY, Chen LY, Hsu PS, Krairit O, Lee JS, Lee WJ, Lee Y, Liang CK, Limpawattana P, Lin CS, Peng LN, Satake S, Suzuki T, Won CW, Wu CH, Wu SN, Zhang T, Zeng P, Akishita M, Arai H
J Am Med Dir Assoc 2014 Feb;15(2):95-101. doi: 10.1016/j.jamda.2013.11.025. PMID: 24461239
Definition and classification of cancer cachexia: an international consensus.
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Prognosis

Pathophysiology and mechanisms of primary sarcopenia (Review).
Nishikawa H, Fukunishi S, Asai A, Yokohama K, Nishiguchi S, Higuchi K
Int J Mol Med 2021 Aug;48(2) Epub 2021 Jun 29 doi: 10.3892/ijmm.2021.4989. PMID: 34184088
Update on posterior cortical atrophy.
Holden SK, Bettcher BM, Pelak VS
Curr Opin Neurol 2020 Feb;33(1):68-73. doi: 10.1097/WCO.0000000000000767. PMID: 31688098Free PMC Article
Sarcopenia, frailty and their prevention by exercise.
Nascimento CM, Ingles M, Salvador-Pascual A, Cominetti MR, Gomez-Cabrera MC, Viña J
Free Radic Biol Med 2019 Feb 20;132:42-49. Epub 2018 Aug 31 doi: 10.1016/j.freeradbiomed.2018.08.035. PMID: 30176345
Sarcopenic obesity in older adults: aetiology, epidemiology and treatment strategies.
Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article
Blepharochalasis.
Bergin DJ, McCord CD, Berger T, Friedberg H, Waterhouse W
Br J Ophthalmol 1988 Nov;72(11):863-7. doi: 10.1136/bjo.72.11.863. PMID: 3207663Free PMC Article

Clinical prediction guides

CO2-Laser therapy and Genitourinary Syndrome of Menopause: A Systematic Review and Meta-Analysis.
Filippini M, Porcari I, Ruffolo AF, Casiraghi A, Farinelli M, Uccella S, Franchi M, Candiani M, Salvatore S
J Sex Med 2022 Mar;19(3):452-470. Epub 2022 Jan 29 doi: 10.1016/j.jsxm.2021.12.010. PMID: 35101378
New understanding of the pathogenesis and treatment of stroke-related sarcopenia.
Li W, Yue T, Liu Y
Biomed Pharmacother 2020 Nov;131:110721. Epub 2020 Sep 10 doi: 10.1016/j.biopha.2020.110721. PMID: 32920517
Nerve and Muscle Abnormalities.
Rubin DA
Magn Reson Imaging Clin N Am 2020 May;28(2):285-300. Epub 2020 Feb 17 doi: 10.1016/j.mric.2019.12.010. PMID: 32241664
Osteosarcopenia: epidemiology, diagnosis, and treatment-facts and numbers.
Kirk B, Zanker J, Duque G
J Cachexia Sarcopenia Muscle 2020 Jun;11(3):609-618. Epub 2020 Mar 22 doi: 10.1002/jcsm.12567. PMID: 32202056Free PMC Article
Sarcopenia, frailty and their prevention by exercise.
Nascimento CM, Ingles M, Salvador-Pascual A, Cominetti MR, Gomez-Cabrera MC, Viña J
Free Radic Biol Med 2019 Feb 20;132:42-49. Epub 2018 Aug 31 doi: 10.1016/j.freeradbiomed.2018.08.035. PMID: 30176345

Recent systematic reviews

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de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
The effect of Tai Chi in elderly individuals with sarcopenia and frailty: A systematic review and meta-analysis of randomized controlled trials.
Huang CY, Mayer PK, Wu MY, Liu DH, Wu PC, Yen HR
Ageing Res Rev 2022 Dec;82:101747. Epub 2022 Oct 9 doi: 10.1016/j.arr.2022.101747. PMID: 36223875
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Hormone Therapy and Other Treatments for Symptoms of Menopause.
Hill DA, Crider M, Hill SR
Am Fam Physician 2016 Dec 1;94(11):884-889. PMID: 27929271
Ocular ischemic syndrome - a systematic review.
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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