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Hyperautofluorescent retinal lesion

MedGen UID:
1368849
Concept ID:
C4476623
Finding
HPO: HP:0025158

Definition

Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. [from HPO]

Term Hierarchy

Conditions with this feature

Retinitis pigmentosa 86
MedGen UID:
1684789
Concept ID:
C5231428
Disease or Syndrome
Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 89
MedGen UID:
1710499
Concept ID:
C5394552
Disease or Syndrome
Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.
Retinitis pigmentosa 90
MedGen UID:
1733837
Concept ID:
C5436588
Disease or Syndrome
Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000.

Professional guidelines

PubMed

Framme C, Brinkmann R, Birngruber R, Roider J
Br J Ophthalmol 2002 Oct;86(10):1099-106. doi: 10.1136/bjo.86.10.1099. PMID: 12234886Free PMC Article

Recent clinical studies

Etiology

Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Gallo B, de Silva SR, Mahroo OA, Saihan Z, Patel PJ, Dowler JG, Pavesio C, Keane PA, Tufail A, Sagoo MS
Br J Ophthalmol 2022 Apr;106(4):568-575. Epub 2021 Jan 4 doi: 10.1136/bjophthalmol-2020-318095. PMID: 33397653Free PMC Article
Ahn SJ, Seo EJ, Kim KE, Kim YJ, Lee BR, Kim JG, Yoon YH, Lee JY
Ophthalmology 2021 Jun;128(6):889-898. Epub 2020 Oct 28 doi: 10.1016/j.ophtha.2020.10.029. PMID: 33129843
Georgiou M, McAnena L, Michaelides M, Reddy MA
J AAPOS 2020 Dec;24(6):357.e1-357.e6. Epub 2020 Nov 26 doi: 10.1016/j.jaapos.2020.08.009. PMID: 33248251Free PMC Article
Charng J, Xiao D, Mehdizadeh M, Attia MS, Arunachalam S, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Mackey DA, Frost S, Chen FK
Sci Rep 2020 Oct 5;10(1):16491. doi: 10.1038/s41598-020-73339-y. PMID: 33020556Free PMC Article

Diagnosis

Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Georgiou M, McAnena L, Michaelides M, Reddy MA
J AAPOS 2020 Dec;24(6):357.e1-357.e6. Epub 2020 Nov 26 doi: 10.1016/j.jaapos.2020.08.009. PMID: 33248251Free PMC Article
Charng J, Xiao D, Mehdizadeh M, Attia MS, Arunachalam S, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Mackey DA, Frost S, Chen FK
Sci Rep 2020 Oct 5;10(1):16491. doi: 10.1038/s41598-020-73339-y. PMID: 33020556Free PMC Article
Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ
Prog Retin Eye Res 2015 Jul;47:64-85. Epub 2015 Feb 11 doi: 10.1016/j.preteyeres.2015.02.001. PMID: 25681578
Almeida A, Kaliki S, Shields CL
Curr Opin Ophthalmol 2013 May;24(3):222-32. doi: 10.1097/ICU.0b013e32835f8ba1. PMID: 23429597

Therapy

Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Wang D, Velaga SB, Grondin C, Au A, Nittala M, Chhablani J, Vupparaboina KK, Gunnemann F, Jung J, Kim JH, Ip M, Sadda S, Sarraf D
Am J Ophthalmol 2021 Jul;227:125-138. Epub 2021 Feb 27 doi: 10.1016/j.ajo.2021.02.025. PMID: 33651989
Ahn SJ, Seo EJ, Kim KE, Kim YJ, Lee BR, Kim JG, Yoon YH, Lee JY
Ophthalmology 2021 Jun;128(6):889-898. Epub 2020 Oct 28 doi: 10.1016/j.ophtha.2020.10.029. PMID: 33129843
Mathis T, Delaunay B, Favard C, Denis P, Kodjikian L
Retina 2020 Dec;40(12):2396-2402. doi: 10.1097/IAE.0000000000002759. PMID: 31923122
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

Prognosis

Iovino C, Ramtohul P, Au A, Romero-Morales V, Sadda S, Freund KB, Sarraf D
Surv Ophthalmol 2023 May-Jun;68(3):361-379. Epub 2023 Jan 30 doi: 10.1016/j.survophthal.2023.01.009. PMID: 36720370
Brinkmann M, Bacci T, Kar D, Messinger JD, Sloan KR, Chen L, Hamann T, Wiest M, Freund KB, Zweifel S, Curcio CA
Am J Ophthalmol 2022 Aug;240:99-114. Epub 2022 Feb 19 doi: 10.1016/j.ajo.2022.02.006. PMID: 35192790Free PMC Article
Gallo B, de Silva SR, Mahroo OA, Saihan Z, Patel PJ, Dowler JG, Pavesio C, Keane PA, Tufail A, Sagoo MS
Br J Ophthalmol 2022 Apr;106(4):568-575. Epub 2021 Jan 4 doi: 10.1136/bjophthalmol-2020-318095. PMID: 33397653Free PMC Article
Ahn SJ, Seo EJ, Kim KE, Kim YJ, Lee BR, Kim JG, Yoon YH, Lee JY
Ophthalmology 2021 Jun;128(6):889-898. Epub 2020 Oct 28 doi: 10.1016/j.ophtha.2020.10.029. PMID: 33129843
Russell JF, Pichi F, Scott NL, Hartley MJ, Bell D, Agarwal A, Leong B, Holland GN, Freund KB, Sarraf D
Int Ophthalmol 2020 Mar;40(3):627-638. Epub 2019 Dec 2 doi: 10.1007/s10792-019-01223-4. PMID: 31792848

Clinical prediction guides

Brinkmann M, Bacci T, Kar D, Messinger JD, Sloan KR, Chen L, Hamann T, Wiest M, Freund KB, Zweifel S, Curcio CA
Am J Ophthalmol 2022 Aug;240:99-114. Epub 2022 Feb 19 doi: 10.1016/j.ajo.2022.02.006. PMID: 35192790Free PMC Article
Oh JK, Nuzbrokh Y, Lee W, Lima de Carvalho JR Jr, Wang NK, Sparrow JR, Allikmets R, Tsang SH
Eur J Ophthalmol 2022 Jan;32(1):NP235-NP239. Epub 2020 Sep 14 doi: 10.1177/1120672120957599. PMID: 32927963Free PMC Article
Dhooge PPA, Runhart EH, Lambertus S, Bax NM, Groenewoud JMM, Klevering BJ, Hoyng CB
Transl Vis Sci Technol 2021 Mar 1;10(3):18. doi: 10.1167/tvst.10.3.18. PMID: 34003952Free PMC Article
Charng J, Xiao D, Mehdizadeh M, Attia MS, Arunachalam S, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Mackey DA, Frost S, Chen FK
Sci Rep 2020 Oct 5;10(1):16491. doi: 10.1038/s41598-020-73339-y. PMID: 33020556Free PMC Article
Teussink MM, Huis In Het Veld PI, de Vries LA, Hoyng CB, Klevering BJ, Theelen T
Acta Ophthalmol 2016 Dec;94(8):815-823. Epub 2016 May 27 doi: 10.1111/aos.13114. PMID: 27230297

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