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Choroidal atrophy-alopecia syndrome

MedGen UID:
419316
•Concept ID:
C2931026
•
Disease or Syndrome
Synonyms: Choroidal atrophy alopecia; Moloney syndrome; Regional choroidal atrophy and alopecia
SNOMED CT: Choroidal atrophy and alopecia syndrome (720850008); Moloney syndrome (720850008); Regional choroidal atrophy and alopecia (720850008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015428
Orphanet: ORPHA1433

Definition

A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChoroidal atrophy-alopecia syndrome

Recent clinical studies

Etiology

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Pachychoroid disease spectrum: review article.
Mazzeo TJMM, Leber HM, da Silva AG, Freire RCM, Barbosa GCS, Criado GG, Jacob GAV, Machado CG, Gomes AMV
Graefes Arch Clin Exp Ophthalmol 2022 Mar;260(3):723-735. Epub 2021 Oct 14 doi: 10.1007/s00417-021-05450-3. PMID: 34648069
Venous overload choroidopathy: A hypothetical framework for central serous chorioretinopathy and allied disorders.
Spaide RF, Gemmy Cheung CM, Matsumoto H, Kishi S, Boon CJF, van Dijk EHC, Mauget-Faysse M, Behar-Cohen F, Hartnett ME, Sivaprasad S, Iida T, Brown DM, Chhablani J, Maloca PM
Prog Retin Eye Res 2022 Jan;86:100973. Epub 2021 May 21 doi: 10.1016/j.preteyeres.2021.100973. PMID: 34029721
PERIPAPILLARY PACHYCHOROID SYNDROME.
Phasukkijwatana N, Freund KB, Dolz-Marco R, Al-Sheikh M, Keane PA, Egan CA, Randhawa S, Stewart JM, Liu Q, Hunyor AP, Kreiger A, Nagiel A, Lalane R, Rahimi M, Lee WK, Jampol LM, Sarraf D
Retina 2018 Sep;38(9):1652-1667. doi: 10.1097/IAE.0000000000001907. PMID: 29135799
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Imaging-based Assessment of Choriocapillaris: A Comprehensive Review.
Singh RB, Perepelkina T, Testi I, Young BK, Mirza T, Invernizzi A, Biswas J, Agarwal A
Semin Ophthalmol 2023 Jul;38(5):405-426. Epub 2022 Aug 18 doi: 10.1080/08820538.2022.2109939. PMID: 35982638
Pachychoroid disease spectrum: review article.
Mazzeo TJMM, Leber HM, da Silva AG, Freire RCM, Barbosa GCS, Criado GG, Jacob GAV, Machado CG, Gomes AMV
Graefes Arch Clin Exp Ophthalmol 2022 Mar;260(3):723-735. Epub 2021 Oct 14 doi: 10.1007/s00417-021-05450-3. PMID: 34648069
Retinal and choroidal manifestations of COVID-19.
Zhang Y, Stewart JM
Curr Opin Ophthalmol 2021 Nov 1;32(6):536-540. doi: 10.1097/ICU.0000000000000801. PMID: 34605447
Pachychoroid disease.
Cheung CMG, Lee WK, Koizumi H, Dansingani K, Lai TYY, Freund KB
Eye (Lond) 2019 Jan;33(1):14-33. Epub 2018 Jul 11 doi: 10.1038/s41433-018-0158-4. PMID: 29995841Free PMC Article
PERIPAPILLARY PACHYCHOROID SYNDROME.
Phasukkijwatana N, Freund KB, Dolz-Marco R, Al-Sheikh M, Keane PA, Egan CA, Randhawa S, Stewart JM, Liu Q, Hunyor AP, Kreiger A, Nagiel A, Lalane R, Rahimi M, Lee WK, Jampol LM, Sarraf D
Retina 2018 Sep;38(9):1652-1667. doi: 10.1097/IAE.0000000000001907. PMID: 29135799

Therapy

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Miliary Tuberculosis.
Sharma SK, Mohan A
Microbiol Spectr 2017 Mar;5(2) doi: 10.1128/microbiolspec.TNMI7-0013-2016. PMID: 28281441
Vogt-Koyanagi-Harada disease.
O'Keefe GA, Rao NA
Surv Ophthalmol 2017 Jan-Feb;62(1):1-25. Epub 2016 May 27 doi: 10.1016/j.survophthal.2016.05.002. PMID: 27241814
Intraoperative floppy-iris syndrome.
González Martín-Moro J, Muñoz Negrete F, Lozano Escobar I, Fernández Miguel Y
Arch Soc Esp Oftalmol 2013 Feb;88(2):64-76. Epub 2012 May 15 doi: 10.1016/j.oftal.2011.09.023. PMID: 23433194
Vogt-Koyanagi-Harada disease.
Read RW, Rao NA, Cunningham ET
Curr Opin Ophthalmol 2000 Dec;11(6):437-42. doi: 10.1097/00055735-200012000-00009. PMID: 11141638

Prognosis

Update on the diagnosis and treatment of choroidal hemangioma.
García Caride S, Fernández-Vigo JI, Valverde-Megías A
Arch Soc Esp Oftalmol (Engl Ed) 2023 May;98(5):281-291. Epub 2023 Apr 14 doi: 10.1016/j.oftale.2023.04.006. PMID: 37062411
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
PERIPAPILLARY PACHYCHOROID SYNDROME.
Phasukkijwatana N, Freund KB, Dolz-Marco R, Al-Sheikh M, Keane PA, Egan CA, Randhawa S, Stewart JM, Liu Q, Hunyor AP, Kreiger A, Nagiel A, Lalane R, Rahimi M, Lee WK, Jampol LM, Sarraf D
Retina 2018 Sep;38(9):1652-1667. doi: 10.1097/IAE.0000000000001907. PMID: 29135799
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Uveal effusion syndrome.
Elagouz M, Stanescu-Segall D, Jackson TL
Surv Ophthalmol 2010 Mar-Apr;55(2):134-45. doi: 10.1016/j.survophthal.2009.05.003. PMID: 20159229

Clinical prediction guides

Clinical Manifestations and Implications of Nonneoplastic Uveitis Masquerade Syndrome.
Hsu YR, Wang LU, Chen FT, Wang JK, Huang TL, Chang PY, Chen YJ
Am J Ophthalmol 2022 Jun;238:75-85. Epub 2022 Jan 5 doi: 10.1016/j.ajo.2021.12.018. PMID: 34995524
Fibromyalgia syndrome and the eye-A review.
Zdebik N, Zdebik A, Bogusławska J, Przeździecka-Dołyk J, Turno-Kręcicka A
Surv Ophthalmol 2021 Jan-Feb;66(1):132-137. Epub 2020 Jun 5 doi: 10.1016/j.survophthal.2020.05.006. PMID: 32512032
SARS-CoV-2 Infects the Brain Choroid Plexus and Disrupts the Blood-CSF Barrier in Human Brain Organoids.
Pellegrini L, Albecka A, Mallery DL, Kellner MJ, Paul D, Carter AP, James LC, Lancaster MA
Cell Stem Cell 2020 Dec 3;27(6):951-961.e5. Epub 2020 Oct 13 doi: 10.1016/j.stem.2020.10.001. PMID: 33113348Free PMC Article
Zika virus and the eye.
de Paula Freitas B, Ventura CV, Maia M, Belfort R Jr
Curr Opin Ophthalmol 2017 Nov;28(6):595-599. doi: 10.1097/ICU.0000000000000420. PMID: 28795959
Choroidal vascular ischaemia.
Amalric P
Eye (Lond) 1991;5 ( Pt 5):519-27. doi: 10.1038/eye.1991.95. PMID: 1794419

Recent systematic reviews

Ocular involvement in monogenic autoinflammatory disease.
Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G
Autoimmun Rev 2021 Nov;20(11):102944. Epub 2021 Sep 9 doi: 10.1016/j.autrev.2021.102944. PMID: 34509650
Ocular Manifestations in Rheumatoid Arthritis, Connective Tissue Disease, and Vasculitis: A Systematic Review and Metaanalysis.
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
β-Thalassemia and ocular implications: a systematic review.
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort.
Koenraads Y, van Egmond-Ebbeling MB, de Boer JH, Imhof SM, Braun KP, Porro GL; SWS study group
Acta Ophthalmol 2016 Nov;94(7):638-645. Epub 2016 May 30 doi: 10.1111/aos.13074. PMID: 27238857
Choroidal thickness changes in obstructive sleep apnea syndrome: a systematic review and meta-analysis.
He M, Han X, Wu H, Huang W
Sleep Breath 2016 Mar;20(1):369-78. Epub 2016 Jan 15 doi: 10.1007/s11325-015-1306-8. PMID: 26779899

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