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Macular dots

MedGen UID:
1671017
Concept ID:
C4732810
Finding
HPO: HP:0032028

Definition

Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. [from HPO]

Conditions with this feature

Sjögren-Larsson syndrome
MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

Professional guidelines

PubMed

Huang H, Jansonius NM, Chen H, Los LI
Ophthalmol Retina 2022 Sep;6(9):814-827. Epub 2022 Mar 30 doi: 10.1016/j.oret.2022.03.020. PMID: 35367382
Baltatescu A, Striglia E, Trento M, Mazzeo A, Cavallo F, Charrier L, Porta M
Diab Vasc Dis Res 2018 Jul;15(4):356-359. Epub 2018 May 18 doi: 10.1177/1479164118775318. PMID: 29775089
Bianchi Marzoli S, Martinelli V
Neurol Sci 2001 Nov;22 Suppl 2:S52-4. doi: 10.1007/s100720100034. PMID: 11794478

Recent clinical studies

Etiology

Predović J, Bosnar D, Marković L, Ćurić A, Bračić J, Georgi T, List W, Glatz W, Ivastinovic D
PLoS One 2024;19(4):e0300148. Epub 2024 Apr 9 doi: 10.1371/journal.pone.0300148. PMID: 38593138Free PMC Article
Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Cabral D, Ramtohul P, Fradinho AC, Freund KB
Ophthalmol Retina 2022 Dec;6(12):1185-1193. Epub 2022 Jun 27 doi: 10.1016/j.oret.2022.06.005. PMID: 35772694
Huang H, Jansonius NM, Chen H, Los LI
Ophthalmol Retina 2022 Sep;6(9):814-827. Epub 2022 Mar 30 doi: 10.1016/j.oret.2022.03.020. PMID: 35367382
Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Pacini B, Finocchio L, Virgili G, Rizzo S
Ophthalmic Genet 2019 Apr;40(2):135-140. Epub 2019 Apr 3 doi: 10.1080/13816810.2019.1589529. PMID: 30942106

Diagnosis

Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Kumar VB, Sher I, Rencus-Lazar S, Rotenstreich Y, Gazit E
Small 2023 Feb;19(7):e2205754. Epub 2022 Dec 2 doi: 10.1002/smll.202205754. PMID: 36461689
Vilares-Morgado R, Madeira C, Falcão M, Godinho G, Ribeiro M, Beato J, Pedrosa AC, Brandão E, Falcão-Reis F, Carneiro Â
Graefes Arch Clin Exp Ophthalmol 2021 Sep;259(9):2583-2595. Epub 2021 Mar 2 doi: 10.1007/s00417-021-05129-9. PMID: 33651204
Fouzdar-Jain S, Suh DW, Rizzo WB
Ophthalmic Genet 2019 Aug;40(4):298-308. Epub 2019 Sep 12 doi: 10.1080/13816810.2019.1660379. PMID: 31512987
Bianchi Marzoli S, Martinelli V
Neurol Sci 2001 Nov;22 Suppl 2:S52-4. doi: 10.1007/s100720100034. PMID: 11794478

Therapy

Predović J, Bosnar D, Marković L, Ćurić A, Bračić J, Georgi T, List W, Glatz W, Ivastinovic D
PLoS One 2024;19(4):e0300148. Epub 2024 Apr 9 doi: 10.1371/journal.pone.0300148. PMID: 38593138Free PMC Article
Feng T, Li Y, Zhang W
Sci Rep 2023 Jan 16;13(1):792. doi: 10.1038/s41598-023-28169-z. PMID: 36646778Free PMC Article
Vilares-Morgado R, Madeira C, Falcão M, Godinho G, Ribeiro M, Beato J, Pedrosa AC, Brandão E, Falcão-Reis F, Carneiro Â
Graefes Arch Clin Exp Ophthalmol 2021 Sep;259(9):2583-2595. Epub 2021 Mar 2 doi: 10.1007/s00417-021-05129-9. PMID: 33651204
Colombeau L, Acherar S, Baros F, Arnoux P, Gazzali AM, Zaghdoudi K, Toussaint M, Vanderesse R, Frochot C
Top Curr Chem 2016;370:113-34. doi: 10.1007/978-3-319-22942-3_4. PMID: 26589507
Bos PJ, Deutman AF
Am J Ophthalmol 1975 Oct;80(4):573-84. doi: 10.1016/0002-9394(75)90387-6. PMID: 1180301

Prognosis

Predović J, Bosnar D, Marković L, Ćurić A, Bračić J, Georgi T, List W, Glatz W, Ivastinovic D
PLoS One 2024;19(4):e0300148. Epub 2024 Apr 9 doi: 10.1371/journal.pone.0300148. PMID: 38593138Free PMC Article
Kaplan FB, Açıkalın B, Ergin A, Kocapınar Y
Photodiagnosis Photodyn Ther 2023 Jun;42:103552. Epub 2023 Apr 4 doi: 10.1016/j.pdpdt.2023.103552. PMID: 37023997
Huang H, Jansonius NM, Chen H, Los LI
Ophthalmol Retina 2022 Sep;6(9):814-827. Epub 2022 Mar 30 doi: 10.1016/j.oret.2022.03.020. PMID: 35367382
Vilares-Morgado R, Madeira C, Falcão M, Godinho G, Ribeiro M, Beato J, Pedrosa AC, Brandão E, Falcão-Reis F, Carneiro Â
Graefes Arch Clin Exp Ophthalmol 2021 Sep;259(9):2583-2595. Epub 2021 Mar 2 doi: 10.1007/s00417-021-05129-9. PMID: 33651204
Hanumunthadu D, Matet A, Rasheed MA, Goud A, Vuppurabina KK, Chhablani J
Indian J Ophthalmol 2019 Nov;67(11):1850-1854. doi: 10.4103/ijo.IJO_2030_18. PMID: 31638047Free PMC Article

Clinical prediction guides

Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Romano MR, Ferrara M, Coco-Martin RM, Rickmann A, Spitzer MS, Steel DHW, Pastor JC
Retina 2023 Aug 1;43(8):1370-1376. doi: 10.1097/IAE.0000000000003811. PMID: 37071921
Huang H, Jansonius NM, Chen H, Los LI
Ophthalmol Retina 2022 Sep;6(9):814-827. Epub 2022 Mar 30 doi: 10.1016/j.oret.2022.03.020. PMID: 35367382
Wongchaisuwat N, Khongpipatchaisiri S, Boonsopon S, Choopong P, Tesavibul N, Prakhunhungsit S, Thoongsuwan S, Rodanant N, Phasukkijwatana N
Sci Rep 2020 Dec 8;10(1):21432. doi: 10.1038/s41598-020-78587-6. PMID: 33293646Free PMC Article
Bos PJ, Deutman AF
Am J Ophthalmol 1975 Oct;80(4):573-84. doi: 10.1016/0002-9394(75)90387-6. PMID: 1180301

Recent systematic reviews

Pichi F, Carreño E
Ocul Immunol Inflamm 2022 Apr 3;30(3):690-696. doi: 10.1080/09273948.2022.2075399. PMID: 35901539
Huang H, Jansonius NM, Chen H, Los LI
Ophthalmol Retina 2022 Sep;6(9):814-827. Epub 2022 Mar 30 doi: 10.1016/j.oret.2022.03.020. PMID: 35367382

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