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Granular macular appearance

MedGen UID:
870355
Concept ID:
C4024799
Finding
Synonym: Macular retinal pigment epithelial mottling
 
HPO: HP:0007793

Definition

Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGranular macular appearance

Conditions with this feature

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
Retinal macular dystrophy type 2
MedGen UID:
1666864
Concept ID:
C4749334
Disease or Syndrome
A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).

Recent clinical studies

Etiology

Ichioka A, Ooto S, Uji A, Manabe S, Shiragami C, Tsujikawa A
PLoS One 2021;16(11):e0259880. Epub 2021 Nov 15 doi: 10.1371/journal.pone.0259880. PMID: 34780537Free PMC Article
Guymer R, Wu Z
Clin Exp Ophthalmol 2020 Sep;48(7):983-995. Epub 2020 Sep 2 doi: 10.1111/ceo.13837. PMID: 32741052
Yamagishi T, Koizumi H, Yamazaki T, Kinoshita S
Ophthalmology 2012 Aug;119(8):1650-7. Epub 2012 Apr 17 doi: 10.1016/j.ophtha.2012.02.016. PMID: 22512987
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093
Sarks SH
Br J Ophthalmol 1976 May;60(5):324-41. doi: 10.1136/bjo.60.5.324. PMID: 952802Free PMC Article

Diagnosis

Berlin A, Messinger JD, Balaratnasingam C, Mendis R, Ferrara D, Freund KB, Curcio CA
Transl Vis Sci Technol 2023 Nov 1;12(11):13. doi: 10.1167/tvst.12.11.13. PMID: 37943552Free PMC Article
Jauregui R, Parmann R, Nuzbrokh Y, Tsang SH, Sparrow JR
Sci Rep 2021 Jul 12;11(1):14300. doi: 10.1038/s41598-021-93316-3. PMID: 34253754Free PMC Article
Yamagishi T, Koizumi H, Yamazaki T, Kinoshita S
Ophthalmology 2012 Aug;119(8):1650-7. Epub 2012 Apr 17 doi: 10.1016/j.ophtha.2012.02.016. PMID: 22512987
Zweifel SA, Spaide RF, Curcio CA, Malek G, Imamura Y
Ophthalmology 2010 Feb;117(2):303-12.e1. Epub 2009 Oct 7 doi: 10.1016/j.ophtha.2009.07.014. PMID: 19815280
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093

Therapy

Ng KP, Gugiu B, Renganathan K, Davies MW, Gu X, Crabb JS, Kim SR, Rózanowska MB, Bonilha VL, Rayborn ME, Salomon RG, Sparrow JR, Boulton ME, Hollyfield JG, Crabb JW
Mol Cell Proteomics 2008 Jul;7(7):1397-405. Epub 2008 Apr 24 doi: 10.1074/mcp.M700525-MCP200. PMID: 18436525Free PMC Article
Burford C
Australas J Dermatol 2008 Feb;49(1):35-8. doi: 10.1111/j.1440-0960.2007.00417.x. PMID: 18186846
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514
Szentmáry N, Langenbucher A, Hafner A, Seitz B
Am J Ophthalmol 2004 Feb;137(2):301-7. doi: 10.1016/j.ajo.2003.08.039. PMID: 14962421
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093

Prognosis

Guymer R, Wu Z
Clin Exp Ophthalmol 2020 Sep;48(7):983-995. Epub 2020 Sep 2 doi: 10.1111/ceo.13837. PMID: 32741052
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR
Invest Ophthalmol Vis Sci 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. PMID: 26720460
Micali A, Pisani A, Puzzolo D, Nowińska A, Wylegala E, Teper S, Czajka E, Roszkowska AM, Orzechowska-Wylegala B, Aragona P
Ophthalmology 2014 Jun;121(6):1164-73. Epub 2014 Feb 1 doi: 10.1016/j.ophtha.2013.12.012. PMID: 24491640
Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT
Ophthalmology 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004. PMID: 16019073
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093

Clinical prediction guides

Guymer R, Wu Z
Clin Exp Ophthalmol 2020 Sep;48(7):983-995. Epub 2020 Sep 2 doi: 10.1111/ceo.13837. PMID: 32741052
Micali A, Pisani A, Puzzolo D, Nowińska A, Wylegala E, Teper S, Czajka E, Roszkowska AM, Orzechowska-Wylegala B, Aragona P
Ophthalmology 2014 Jun;121(6):1164-73. Epub 2014 Feb 1 doi: 10.1016/j.ophtha.2013.12.012. PMID: 24491640
Yamagishi T, Koizumi H, Yamazaki T, Kinoshita S
Ophthalmology 2012 Aug;119(8):1650-7. Epub 2012 Apr 17 doi: 10.1016/j.ophtha.2012.02.016. PMID: 22512987
Zweifel SA, Spaide RF, Curcio CA, Malek G, Imamura Y
Ophthalmology 2010 Feb;117(2):303-12.e1. Epub 2009 Oct 7 doi: 10.1016/j.ophtha.2009.07.014. PMID: 19815280
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514

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