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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

A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia.
Khan AO
Ophthalmic Genet 2022 Oct;43(5):713-715. Epub 2022 Jun 23 doi: 10.1080/13816810.2022.2090012. PMID: 35736137
Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients.
Sung Y, Lee MJ, Choi J, Jung SY, Chong SY, Sung JH, Shim SH, Song WK
Br J Ophthalmol 2021 Jun;105(6):829-837. Epub 2020 Jul 29 doi: 10.1136/bjophthalmol-2020-316225. PMID: 32727729
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
Fellow-eye neovascularization in unilateral retinal angiomatous proliferation in a Korean population.
Chang YS, Kim JH, Yoo SJ, Lew YJ, Kim J
Acta Ophthalmol 2016 Feb;94(1):e49-53. Epub 2015 May 17 doi: 10.1111/aos.12748. PMID: 25981599

Diagnosis

A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia.
Khan AO
Ophthalmic Genet 2022 Oct;43(5):713-715. Epub 2022 Jun 23 doi: 10.1080/13816810.2022.2090012. PMID: 35736137
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S
Ophthalmic Genet 2022 Jun;43(3):400-408. Epub 2022 Jan 13 doi: 10.1080/13816810.2021.2023195. PMID: 35026968
Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients.
Sung Y, Lee MJ, Choi J, Jung SY, Chong SY, Sung JH, Shim SH, Song WK
Br J Ophthalmol 2021 Jun;105(6):829-837. Epub 2020 Jul 29 doi: 10.1136/bjophthalmol-2020-316225. PMID: 32727729
UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION.
Gupta MP, Brodie SE, Freund KB
Retin Cases Brief Rep 2021 Sep 1;15(5):527-531. doi: 10.1097/ICB.0000000000000843. PMID: 30688845
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

Therapy

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
Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients.
Sung Y, Lee MJ, Choi J, Jung SY, Chong SY, Sung JH, Shim SH, Song WK
Br J Ophthalmol 2021 Jun;105(6):829-837. Epub 2020 Jul 29 doi: 10.1136/bjophthalmol-2020-316225. PMID: 32727729
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.
Ebrahimiadib N, Samra KA, Domina AM, Stiles ER, Ewer R, Bocian CP, Foster CS
Ocul Immunol Inflamm 2018;26(1):57-64. Epub 2016 Jul 15 doi: 10.1080/09273948.2016.1185529. PMID: 27419275
Fellow-eye neovascularization in unilateral retinal angiomatous proliferation in a Korean population.
Chang YS, Kim JH, Yoo SJ, Lew YJ, Kim J
Acta Ophthalmol 2016 Feb;94(1):e49-53. Epub 2015 May 17 doi: 10.1111/aos.12748. PMID: 25981599
Pseudophakic macular edema and oral acetazolamide: an optical coherence tomography measurable, dose-related response.
Ismail RA, Sallam A, Zambarakji HJ
Eur J Ophthalmol 2008 Nov-Dec;18(6):1011-3. doi: 10.1177/112067210801800626. PMID: 18988178

Prognosis

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA, Kaukonen M, Kiraly P, Kapetanovic JC, MacLaren RE
Genes (Basel) 2022 Nov 12;13(11) doi: 10.3390/genes13112103. PMID: 36421778Free PMC Article
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S
Ophthalmic Genet 2022 Jun;43(3):400-408. Epub 2022 Jan 13 doi: 10.1080/13816810.2021.2023195. PMID: 35026968
Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients.
Sung Y, Lee MJ, Choi J, Jung SY, Chong SY, Sung JH, Shim SH, Song WK
Br J Ophthalmol 2021 Jun;105(6):829-837. Epub 2020 Jul 29 doi: 10.1136/bjophthalmol-2020-316225. PMID: 32727729
Fellow-eye neovascularization in unilateral retinal angiomatous proliferation in a Korean population.
Chang YS, Kim JH, Yoo SJ, Lew YJ, Kim J
Acta Ophthalmol 2016 Feb;94(1):e49-53. Epub 2015 May 17 doi: 10.1111/aos.12748. PMID: 25981599
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BH
Am J Hum Genet 1997 Jan;60(1):57-62. PMID: 8981947Free PMC Article

Clinical prediction guides

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA, Kaukonen M, Kiraly P, Kapetanovic JC, MacLaren RE
Genes (Basel) 2022 Nov 12;13(11) doi: 10.3390/genes13112103. PMID: 36421778Free PMC Article
UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION.
Gupta MP, Brodie SE, Freund KB
Retin Cases Brief Rep 2021 Sep 1;15(5):527-531. doi: 10.1097/ICB.0000000000000843. PMID: 30688845
Fellow-eye neovascularization in unilateral retinal angiomatous proliferation in a Korean population.
Chang YS, Kim JH, Yoo SJ, Lew YJ, Kim J
Acta Ophthalmol 2016 Feb;94(1):e49-53. Epub 2015 May 17 doi: 10.1111/aos.12748. PMID: 25981599
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ
Am J Ophthalmol 2015 Aug;160(2):364-372.e1. Epub 2015 May 15 doi: 10.1016/j.ajo.2015.05.007. PMID: 25982971
Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease.
Sun H, Nathans J
J Bioenerg Biomembr 2001 Dec;33(6):523-30. doi: 10.1023/a:1012883306823. PMID: 11804194

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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