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Dark choroid

MedGen UID:
1369252
Concept ID:
C4476615
Finding
HPO: HP:0025148

Definition

A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). [from HPO]

Term Hierarchy

Conditions with this feature

Patterned macular dystrophy 1
MedGen UID:
1646806
Concept ID:
C4551999
Disease or Syndrome
Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular Dystrophy Also see MDPT2 (608970), caused by mutation in the CTNNA1 gene (116805) on chromosome 5q31; and MDPT3 (617111), caused by mutation in the MAPKAPK3 gene (602130) on chromosome 3p21.

Professional guidelines

PubMed

Al Balushi K, Al Hadhrami A, Balushi HA, Al Lawati A, Das S
Curr Drug Targets 2024;25(3):149-157. doi: 10.2174/0113894501280380231214105255. PMID: 38115619
Yeong JL, Loveman E, Colquitt JL, Royle P, Waugh N, Lois N
Cochrane Database Syst Rev 2020 Dec 17;12(12):CD013154. doi: 10.1002/14651858.CD013154.pub2. PMID: 33331670Free PMC Article
Zhu J, Jiang Y, Shi Y, Zheng B, Xu Z, Jia W
Medicine (Baltimore) 2017 Oct;96(43):e8376. doi: 10.1097/MD.0000000000008376. PMID: 29069031Free PMC Article

Recent clinical studies

Etiology

Pellegrini M, Acquistapace A, Oldani M, Cereda MG, Giani A, Cozzi M, Staurenghi G
Ophthalmology 2016 Sep;123(9):1879-86. Epub 2016 Jul 19 doi: 10.1016/j.ophtha.2016.05.041. PMID: 27448830
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB
Ophthalmology 2015 Feb;122(2):335-44. Epub 2014 Oct 17 doi: 10.1016/j.ophtha.2014.08.032. PMID: 25444351
Jayasundera T, Rhoades W, Branham K, Niziol LM, Musch DC, Heckenlively JR
Am J Ophthalmol 2010 Apr;149(4):656-660.e2. Epub 2010 Feb 6 doi: 10.1016/j.ajo.2009.11.005. PMID: 20138608
Uliss AE, Moore AT, Bird AC
Ophthalmology 1987 Nov;94(11):1423-7. doi: 10.1016/s0161-6420(87)33270-1. PMID: 3684216
Fish G, Grey R, Sehmi KS, Bird AC
Br J Ophthalmol 1981 May;65(5):359-63. doi: 10.1136/bjo.65.5.359. PMID: 7248243Free PMC Article

Diagnosis

Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB
Ophthalmology 2015 Feb;122(2):335-44. Epub 2014 Oct 17 doi: 10.1016/j.ophtha.2014.08.032. PMID: 25444351
Jayasundera T, Rhoades W, Branham K, Niziol LM, Musch DC, Heckenlively JR
Am J Ophthalmol 2010 Apr;149(4):656-660.e2. Epub 2010 Feb 6 doi: 10.1016/j.ajo.2009.11.005. PMID: 20138608
Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB
Mol Vis 2009 Dec 20;15:2841-7. PMID: 20029649Free PMC Article
Delori FC, Staurenghi G, Arend O, Dorey CK, Goger DG, Weiter JJ
Invest Ophthalmol Vis Sci 1995 Oct;36(11):2327-31. PMID: 7558729

Therapy

Taban M, Thomas EL, Boyer DS, Novack RL, Chu TG, Gallemore RP
Curr Eye Res 2004 Apr;28(4):291-5. doi: 10.1076/ceyr.28.4.291.27829. PMID: 15259299
Cohen SY, Quentel G, Egasse D, Cadot M, Ingster-Moati I, Coscas GJ
Retina 1993;13(4):312-6. PMID: 8115732

Prognosis

Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB
Ophthalmology 2015 Feb;122(2):335-44. Epub 2014 Oct 17 doi: 10.1016/j.ophtha.2014.08.032. PMID: 25444351
Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB
Mol Vis 2009 Dec 20;15:2841-7. PMID: 20029649Free PMC Article
Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR
Arch Ophthalmol 1999 Apr;117(4):504-10. doi: 10.1001/archopht.117.4.504. PMID: 10206579
Suzuki R, Hirose T
Ophthalmologica 1998;212(4):260-7. doi: 10.1159/000027304. PMID: 9672216

Clinical prediction guides

Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
Pellegrini M, Acquistapace A, Oldani M, Cereda MG, Giani A, Cozzi M, Staurenghi G
Ophthalmology 2016 Sep;123(9):1879-86. Epub 2016 Jul 19 doi: 10.1016/j.ophtha.2016.05.041. PMID: 27448830
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB
Ophthalmology 2015 Feb;122(2):335-44. Epub 2014 Oct 17 doi: 10.1016/j.ophtha.2014.08.032. PMID: 25444351
Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K
Ophthalmic Genet 1999 Jun;20(2):71-81. doi: 10.1076/opge.20.2.71.2287. PMID: 10420191
Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR
Arch Ophthalmol 1999 Apr;117(4):504-10. doi: 10.1001/archopht.117.4.504. PMID: 10206579

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