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Metabolic disease with pigmentary retinitis

MedGen UID:
799569
Concept ID:
CN207084
Disease or Syndrome
 
Orphanet: ORPHA98713

Recent clinical studies

Etiology

Seok S, Lyu IJ, Park KA, Oh SY
Graefes Arch Clin Exp Ophthalmol 2015 Dec;253(12):2111-9. Epub 2015 Feb 18 doi: 10.1007/s00417-015-2953-y. PMID: 25690978
Bhatti MT
Curr Neurol Neurosci Rep 2006 Sep;6(5):403-13. PMID: 16928351
Dhalla MS, Desai UR, Zuckerbrod DS
Can J Ophthalmol 2006 Feb;41(1):38-40. doi: 10.1016/S0008-4182(06)80064-5. PMID: 16462870
Kokubo Y, Ito K, Kuzuhara S
Neurology 2003 May 27;60(10):1725-6. PMID: 12771286
Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM
Ophthalmology 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. PMID: 10366077

Diagnosis

Garcia-Gonzalez JM, Neiweem AE, Grassi MA
JAMA Ophthalmol 2015 Dec;133(12):e152161. Epub 2015 Dec 10 doi: 10.1001/jamaophthalmol.2015.2161. PMID: 26659446Free PMC Article
Kasbekar SA, Gonzalez-Martin JA, Shafiq AE, Chandna A, Willoughby CE
Ophthalmic Genet 2013 Mar-Jun;34(1-2):55-7. Epub 2011 Sep 21 doi: 10.3109/13816810.2011.610862. PMID: 21936618
Bhatti MT
Curr Neurol Neurosci Rep 2006 Sep;6(5):403-13. PMID: 16928351
Dhalla MS, Desai UR, Zuckerbrod DS
Can J Ophthalmol 2006 Feb;41(1):38-40. doi: 10.1016/S0008-4182(06)80064-5. PMID: 16462870
Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG
Neurology 1997 Oct;49(4):1013-7. PMID: 9339682

Therapy

Nasr MB, Symeonidis C, Mikropoulos DG, Kozeis N, Tsinopoulos I, Dimitrakos SA, Konstas AG
Eur J Ophthalmol 2011 Sep-Oct;21(5):674-6. PMID: 21484752
Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA
Hum Mol Genet 1996 Nov;5(11):1835-40. PMID: 8923013
Lakhanpal V, Schocket SS, Jiji R
Ophthalmology 1984 May;91(5):443-51. PMID: 6739047
Podos SM
Int Ophthalmol Clin 1967 Winter;7(4):935-48. PMID: 5304605

Prognosis

Han J, Lee YM, Kim SM, Han SY, Lee JB, Han SH
Br J Ophthalmol 2015 Apr;99(4):528-35. Epub 2014 Oct 28 doi: 10.1136/bjophthalmol-2014-305704. PMID: 25351680
Kasbekar SA, Gonzalez-Martin JA, Shafiq AE, Chandna A, Willoughby CE
Ophthalmic Genet 2013 Mar-Jun;34(1-2):55-7. Epub 2011 Sep 21 doi: 10.3109/13816810.2011.610862. PMID: 21936618
Traboulsi EI
Br J Ophthalmol 2010 Oct;94(10):1281-7. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.165654. PMID: 19825837
Dhalla MS, Desai UR, Zuckerbrod DS
Can J Ophthalmol 2006 Feb;41(1):38-40. doi: 10.1016/S0008-4182(06)80064-5. PMID: 16462870
Shibasaki H, Kato M, Inomata H, Nishimura M, Arakawa T, Kobayashi T, Nagara H, Kuroiwa Y
Acta Neurol Scand 1979 Jun;59(6):331-42. PMID: 484206

Clinical prediction guides

Paulus YM, Wenick AS
Retin Cases Brief Rep 2016 Summer;10(3):236-8. doi: 10.1097/ICB.0000000000000239. PMID: 26536013
Seok S, Lyu IJ, Park KA, Oh SY
Graefes Arch Clin Exp Ophthalmol 2015 Dec;253(12):2111-9. Epub 2015 Feb 18 doi: 10.1007/s00417-015-2953-y. PMID: 25690978
Han J, Lee YM, Kim SM, Han SY, Lee JB, Han SH
Br J Ophthalmol 2015 Apr;99(4):528-35. Epub 2014 Oct 28 doi: 10.1136/bjophthalmol-2014-305704. PMID: 25351680
Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM
Ophthalmology 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. PMID: 10366077
Nowaczyk MJ, Hughes HE, Costa T, Clarke JT
Clin Dysmorphol 1998 Oct;7(4):263-8. PMID: 9823492

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