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Hereditary macular dystrophy

MedGen UID:
1636841
•Concept ID:
C4682820
•
Disease or Syndrome
Synonym: Genetic macular dystrophy
 
Monarch Initiative: MONDO:0020242

Definition

Macular dystrophy that is related to a change in a gene. [from NCI]

Professional guidelines

PubMed

Etiology and treatment of choroidal neovascularization in pediatric patients.
Barth T, Zeman F, Helbig H, Oberacher-Velten I
Eur J Ophthalmol 2016 Aug 4;26(5):388-93. Epub 2016 Jun 27 doi: 10.5301/ejo.5000820. PMID: 27375068

Recent clinical studies

Etiology

Etiology and treatment of choroidal neovascularization in pediatric patients.
Barth T, Zeman F, Helbig H, Oberacher-Velten I
Eur J Ophthalmol 2016 Aug 4;26(5):388-93. Epub 2016 Jun 27 doi: 10.5301/ejo.5000820. PMID: 27375068
Progressive chloroquine retinopathy.
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093
Hereditary macular dystrophy. A clinical and genetic study of two specific forms.
Pearce WG
Can J Ophthalmol 1975 Jul;10(3):319-25. PMID: 1148903

Diagnosis

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
Nekolova J, Stepanov A, Kousal B, Stredova M, Jiraskova N
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2022 Dec;166(4):418-427. Epub 2021 Jun 22 doi: 10.5507/bp.2021.037. PMID: 34158671
Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease.
Kubota R, Birch DG, Gregory JK, Koester JM
Br J Ophthalmol 2022 Mar;106(3):403-408. Epub 2020 Nov 19 doi: 10.1136/bjophthalmol-2020-317712. PMID: 33214244Free PMC Article
Laser-Induced Maculopathy Masquerading as Hereditary Macular Dystrophy.
Al Adel F, AlBloushi AF
Middle East Afr J Ophthalmol 2021 Jul-Sep;28(3):189-192. Epub 2021 Dec 31 doi: 10.4103/meajo.meajo_234_21. PMID: 35125803Free PMC Article
Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Hu FY, Gao FJ, Li JK, Xu P, Wang DD, Zhang SH, Wu JH
BMC Med Genet 2020 Oct 31;21(1):213. doi: 10.1186/s12881-020-01152-5. PMID: 33129279Free PMC Article
Occult macular dystrophy.
Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H
Am J Ophthalmol 1996 Nov;122(5):644-53. doi: 10.1016/s0002-9394(14)70482-9. PMID: 8909203

Therapy

Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease.
Kubota R, Birch DG, Gregory JK, Koester JM
Br J Ophthalmol 2022 Mar;106(3):403-408. Epub 2020 Nov 19 doi: 10.1136/bjophthalmol-2020-317712. PMID: 33214244Free PMC Article
Etiology and treatment of choroidal neovascularization in pediatric patients.
Barth T, Zeman F, Helbig H, Oberacher-Velten I
Eur J Ophthalmol 2016 Aug 4;26(5):388-93. Epub 2016 Jun 27 doi: 10.5301/ejo.5000820. PMID: 27375068
Progressive chloroquine retinopathy.
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093

Prognosis

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
Nekolova J, Stepanov A, Kousal B, Stredova M, Jiraskova N
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2022 Dec;166(4):418-427. Epub 2021 Jun 22 doi: 10.5507/bp.2021.037. PMID: 34158671
Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Hu FY, Gao FJ, Li JK, Xu P, Wang DD, Zhang SH, Wu JH
BMC Med Genet 2020 Oct 31;21(1):213. doi: 10.1186/s12881-020-01152-5. PMID: 33129279Free PMC Article
Progressive chloroquine retinopathy.
Sassani JW, Brucker AJ, Cobbs W, Campbell C
Ann Ophthalmol 1983 Jan;15(1):19-22. PMID: 6830093

Clinical prediction guides

Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease.
Kubota R, Birch DG, Gregory JK, Koester JM
Br J Ophthalmol 2022 Mar;106(3):403-408. Epub 2020 Nov 19 doi: 10.1136/bjophthalmol-2020-317712. PMID: 33214244Free PMC Article
Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Hu FY, Gao FJ, Li JK, Xu P, Wang DD, Zhang SH, Wu JH
BMC Med Genet 2020 Oct 31;21(1):213. doi: 10.1186/s12881-020-01152-5. PMID: 33129279Free PMC Article
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.
Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, Zhang K
Am J Hum Genet 1999 May;64(5):1394-9. doi: 10.1086/302377. PMID: 10205271Free PMC Article

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