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Isolated macular dystrophy

MedGen UID:
1842262
•Concept ID:
C5681367
•
Disease or Syndrome
Synonym: isolated macular dystrophy
 
Monarch Initiative: MONDO:0957048
Orphanet: ORPHA519302

Professional guidelines

PubMed

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Systematic review of occupation- and activity-based health management and maintenance interventions for community-dwelling older adults.
Arbesman M, Mosley LJ
Am J Occup Ther 2012 May-Jun;66(3):277-83. doi: 10.5014/ajot.2012.003327. PMID: 22549592

Recent clinical studies

Etiology

OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Grimaldi G, Menghini M, Mahroo OA, Webster AR, Michaelides M, Peng CL, Egan C, Tufail A
Retina 2024 Nov 1;44(11):2013-2018. doi: 10.1097/IAE.0000000000004223. PMID: 39089008
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I
Int J Mol Sci 2021 Nov 23;22(23) doi: 10.3390/ijms222312642. PMID: 34884448Free PMC Article
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
Khan AO
Retina 2020 Jul;40(7):1429-1433. doi: 10.1097/IAE.0000000000002606. PMID: 31318848

Diagnosis

CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF
Am J Ophthalmol 2022 Feb;234:37-48. Epub 2021 Jul 25 doi: 10.1016/j.ajo.2021.07.021. PMID: 34320374
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
Magliyah MS, Geuer S, Alsalamah AK, Lenzner S, Drasdo M, Schatz P
JAMA Ophthalmol 2021 Mar 1;139(3):339-343. doi: 10.1001/jamaophthalmol.2020.6085. PMID: 33507209Free PMC Article
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
Khan AO
Retina 2020 Jul;40(7):1429-1433. doi: 10.1097/IAE.0000000000002606. PMID: 31318848

Prognosis

OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Grimaldi G, Menghini M, Mahroo OA, Webster AR, Michaelides M, Peng CL, Egan C, Tufail A
Retina 2024 Nov 1;44(11):2013-2018. doi: 10.1097/IAE.0000000000004223. PMID: 39089008
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF
Am J Ophthalmol 2022 Feb;234:37-48. Epub 2021 Jul 25 doi: 10.1016/j.ajo.2021.07.021. PMID: 34320374
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
Khan AO
Retina 2020 Jul;40(7):1429-1433. doi: 10.1097/IAE.0000000000002606. PMID: 31318848
CRX-linked macular dystrophy with intrafamilial variable expressivity.
Romdhane K, Vaclavik V, Schorderet DF, Munier FL, Viet Tran H
Ophthalmic Genet 2018 Oct;39(5):637-641. Epub 2018 Aug 1 doi: 10.1080/13816810.2018.1502789. PMID: 30067412

Clinical prediction guides

OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Grimaldi G, Menghini M, Mahroo OA, Webster AR, Michaelides M, Peng CL, Egan C, Tufail A
Retina 2024 Nov 1;44(11):2013-2018. doi: 10.1097/IAE.0000000000004223. PMID: 39089008

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