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Macular degeneration, early-onset(EOMD)

MedGen UID:
863723
•Concept ID:
C4015286
•
Disease or Syndrome
Synonym: EOMD
 
Gene (location): FBN2 (5q23.3)
 
Monarch Initiative: MONDO:0014501
OMIM®: 616118

Clinical features

From HPO
Abnormal skeletal morphology
MedGen UID:
868760
•Concept ID:
C4023165
•
Anatomical Abnormality
An abnormality of the form, structure, or size of the skeletal system.
See: Feature record | Search on this feature
Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Choroidal neovascularization
MedGen UID:
154726
•Concept ID:
C0600518
•
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
Sabirzhanova I, Lopes Pacheco M, Rapino D, Grover R, Handa JT, Guggino WB, Cebotaru L
J Biol Chem 2015 Aug 7;290(32):19743-55. Epub 2015 Jun 19 doi: 10.1074/jbc.M115.647685. PMID: 26092729Free PMC Article

Recent clinical studies

Etiology

Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
von Krusenstiern L, Liu J, Liao E, Gow JA, Chen G, Ong T, Lotery AJ, Jalil A, Lam BL, MacLaren RE; XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol 2023 Mar 1;141(3):275-283. doi: 10.1001/jamaophthalmol.2022.6254. PMID: 36757689Free PMC Article
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
A review on the epidemiology of myopia in school children worldwide.
Grzybowski A, Kanclerz P, Tsubota K, Lanca C, Saw SM
BMC Ophthalmol 2020 Jan 14;20(1):27. doi: 10.1186/s12886-019-1220-0. PMID: 31937276Free PMC Article
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R
J Med Genet 2017 Jun;54(6):404-412. Epub 2017 Apr 26 doi: 10.1136/jmedgenet-2017-104540. PMID: 28446513Free PMC Article

Diagnosis

Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
von Krusenstiern L, Liu J, Liao E, Gow JA, Chen G, Ong T, Lotery AJ, Jalil A, Lam BL, MacLaren RE; XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol 2023 Mar 1;141(3):275-283. doi: 10.1001/jamaophthalmol.2022.6254. PMID: 36757689Free PMC Article
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R
J Med Genet 2017 Jun;54(6):404-412. Epub 2017 Apr 26 doi: 10.1136/jmedgenet-2017-104540. PMID: 28446513Free PMC Article
Early-onset stargardt disease: phenotypic and genotypic characteristics.
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

Therapy

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Scalais E, Geron C, Pierron C, Cardillo S, Schlesser V, Mataigne F, Borde P, Regal L
Mol Genet Metab 2023 Nov;140(3):107681. Epub 2023 Aug 11 doi: 10.1016/j.ymgme.2023.107681. PMID: 37604084
Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
von Krusenstiern L, Liu J, Liao E, Gow JA, Chen G, Ong T, Lotery AJ, Jalil A, Lam BL, MacLaren RE; XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol 2023 Mar 1;141(3):275-283. doi: 10.1001/jamaophthalmol.2022.6254. PMID: 36757689Free PMC Article
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
RISK FACTORS AND CLINICAL SIGNIFICANCE OF PRECHOROIDAL CLEFT IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.
Kim JM, Kang SW, Son DY, Bae K
Retina 2017 Nov;37(11):2047-2055. doi: 10.1097/IAE.0000000000001435. PMID: 28114175

Prognosis

Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Matmat K, Guéant-Rodriguez RM, Oussalah A, Wiedemann-Fodé A, Dionisi-Vici C, Coelho D, Guéant JL, Conart JB
Hum Genet 2022 Jul;141(7):1239-1251. Epub 2021 Oct 15 doi: 10.1007/s00439-021-02350-8. PMID: 34652574
Early-onset stargardt disease: phenotypic and genotypic characteristics.
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

Clinical prediction guides

Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z, Li S, Wang S, Xiao X, Sun W, Zhang Q
Eye (Lond) 2022 Dec;36(12):2279-2285. Epub 2021 Nov 26 doi: 10.1038/s41433-021-01853-y. PMID: 34837036Free PMC Article
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE
JAMA Netw Open 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. PMID: 31199449Free PMC Article

Recent systematic reviews

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Matmat K, Guéant-Rodriguez RM, Oussalah A, Wiedemann-Fodé A, Dionisi-Vici C, Coelho D, Guéant JL, Conart JB
Hum Genet 2022 Jul;141(7):1239-1251. Epub 2021 Oct 15 doi: 10.1007/s00439-021-02350-8. PMID: 34652574
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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