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Yellow/white lesions of the retina

MedGen UID:
892718
Concept ID:
C4072991
Finding
HPO: HP:0030506

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

Takase H, Okada AA, Goto H, Mizuki N, Namba K, Ohguro N, Sonoda KH, Tomita M, Keino H, Kezuka T, Kubono R, Mizuuchi K, Shibuya E, Takahashi H, Yanai R, Mochizuki M
Jpn J Ophthalmol 2015 Jan;59(1):14-20. Epub 2014 Dec 10 doi: 10.1007/s10384-014-0362-0. PMID: 25492579

Recent clinical studies

Etiology

Diafas A, Toumanidou V, Kassos I, Samouilidou M, Dastiridou A, Ziakas N, Androudi S
Int Ophthalmol 2021 Oct;41(10):3515-3522. Epub 2021 Jun 25 doi: 10.1007/s10792-021-01918-7. PMID: 34173151
Lyu Y, Li X, Gong Y
Ophthalmologica 2020;243(5):360-369. Epub 2020 Jan 31 doi: 10.1159/000504052. PMID: 32008002
Cahuzac A, Wolff B, Mathis T, Errera MH, Sahel JA, Mauget-Faÿsse M
Br J Ophthalmol 2017 Oct;101(10):1381-1385. Epub 2017 Feb 15 doi: 10.1136/bjophthalmol-2016-309175. PMID: 28202480
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
Bloom JN, Palestine AG
Ann Intern Med 1988 Dec 15;109(12):963-9. doi: 10.7326/0003-4819-109-12-963. PMID: 2848436

Diagnosis

Gan Y, He G, Zeng Y, Zhang X, Su Y, Mi L, Ji Y, Zhuang X, Wen F
Retina 2023 Sep 1;43(9):1487-1495. doi: 10.1097/IAE.0000000000003828. PMID: 37607393Free PMC Article
Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC
Ophthalmic Genet 2022 Dec;43(6):824-833. Epub 2022 Dec 5 doi: 10.1080/13816810.2022.2147960. PMID: 36469661
Wong CM, Kawasaki BS
Optom Vis Sci 2014 Feb;91(2):e32-7. doi: 10.1097/OPX.0000000000000125. PMID: 24240355
Schachat AP, Robertson DM, Mieler WF, Schwartz D, Augsburger JJ, Schatz H, Gass JD
Arch Ophthalmol 1992 Feb;110(2):196-9. PMID: 1736866
Bloom JN, Palestine AG
Ann Intern Med 1988 Dec 15;109(12):963-9. doi: 10.7326/0003-4819-109-12-963. PMID: 2848436

Therapy

Cahuzac A, Wolff B, Mathis T, Errera MH, Sahel JA, Mauget-Faÿsse M
Br J Ophthalmol 2017 Oct;101(10):1381-1385. Epub 2017 Feb 15 doi: 10.1136/bjophthalmol-2016-309175. PMID: 28202480
Saker S, Morales M, Jhittay H, Wen Y, Amoaku W
Doc Ophthalmol 2015 Jun;130(3):231-40. Epub 2015 Jan 28 doi: 10.1007/s10633-015-9484-z. PMID: 25626405
Pichi F, Lembo A, De Luca M, Hadjistilianou T, Nucci P
Int Ophthalmol 2013 Oct;33(5):589-93. Epub 2013 Jan 1 doi: 10.1007/s10792-012-9703-5. PMID: 23277210
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457
Bloom JN, Palestine AG
Ann Intern Med 1988 Dec 15;109(12):963-9. doi: 10.7326/0003-4819-109-12-963. PMID: 2848436

Prognosis

Diafas A, Toumanidou V, Kassos I, Samouilidou M, Dastiridou A, Ziakas N, Androudi S
Int Ophthalmol 2021 Oct;41(10):3515-3522. Epub 2021 Jun 25 doi: 10.1007/s10792-021-01918-7. PMID: 34173151
de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M
Ophthalmol Retina 2021 Feb;5(2):195-214. Epub 2020 Jul 15 doi: 10.1016/j.oret.2020.07.008. PMID: 32679203Free PMC Article
Takase H, Okada AA, Goto H, Mizuki N, Namba K, Ohguro N, Sonoda KH, Tomita M, Keino H, Kezuka T, Kubono R, Mizuuchi K, Shibuya E, Takahashi H, Yanai R, Mochizuki M
Jpn J Ophthalmol 2015 Jan;59(1):14-20. Epub 2014 Dec 10 doi: 10.1007/s10384-014-0362-0. PMID: 25492579
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
Wong CM, Kawasaki BS
Optom Vis Sci 2014 Feb;91(2):e32-7. doi: 10.1097/OPX.0000000000000125. PMID: 24240355

Clinical prediction guides

Gan Y, He G, Zeng Y, Zhang X, Su Y, Mi L, Ji Y, Zhuang X, Wen F
Retina 2023 Sep 1;43(9):1487-1495. doi: 10.1097/IAE.0000000000003828. PMID: 37607393Free PMC Article
Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC
Ophthalmic Genet 2022 Dec;43(6):824-833. Epub 2022 Dec 5 doi: 10.1080/13816810.2022.2147960. PMID: 36469661
Diafas A, Toumanidou V, Kassos I, Samouilidou M, Dastiridou A, Ziakas N, Androudi S
Int Ophthalmol 2021 Oct;41(10):3515-3522. Epub 2021 Jun 25 doi: 10.1007/s10792-021-01918-7. PMID: 34173151
Spaide RF, Curcio CA
Retina 2010 Oct;30(9):1441-54. doi: 10.1097/IAE.0b013e3181ee5ce8. PMID: 20924263Free PMC Article
Robertson DM, Link TP, Rostvold JA
Ophthalmology 1982 Dec;89(12):1513-7. doi: 10.1016/s0161-6420(82)34609-6. PMID: 7162796

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