U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Macular flecks

MedGen UID:
868911
•Concept ID:
C4023322
•
Finding
HPO: HP:0011507

Definition

Pale often indistinct lesions of the macula. [from HPO]

Conditions with this feature

Stargardt disease 3
MedGen UID:
333146
•Concept ID:
C1838644
•
Disease or Syndrome
Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects (Bernstein et al., 2001; Maugeri et al., 2004).
See: Condition Record
Stargardt disease 3

Professional guidelines

PubMed

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR
Eye (Lond) 2021 May;35(5):1482-1489. Epub 2020 Jul 17 doi: 10.1038/s41433-020-1045-3. PMID: 32681094Free PMC Article

Recent clinical studies

Etiology

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Zernant J, Lee W, Nagasaki T, Collison FT, Fishman GA, Bertelsen M, Rosenberg T, Gouras P, Tsang SH, Allikmets R
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002733. PMID: 29848554Free PMC Article
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970

Diagnosis

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR
Eye (Lond) 2021 May;35(5):1482-1489. Epub 2020 Jul 17 doi: 10.1038/s41433-020-1045-3. PMID: 32681094Free PMC Article
Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1.
Ma CJ, Lee W, Stong N, Zernant J, Chang S, Goldstein D, Nagasaki T, Allikmets R
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003624. PMID: 30630813Free PMC Article
Multifocal Best's disease: The importance of genetic tests.
Alba Linero C, Rodríguez Calvo de Mora M, España Contreras M, Hernando Ayala C
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):136-138. Epub 2017 Nov 14 doi: 10.1016/j.oftal.2017.08.003. PMID: 29150214
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310

Therapy

Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5.
Parker MA, Erker LR, Audo I, Choi D, Mohand-Said S, Sestakauskas K, Benoit P, Appelqvist T, Krahmer M, Ségaut-Prévost C, Lujan BJ, Faridi A, Chegarnov EN, Steinkamp PN, Ku C, da Palma MM, Barale PO, Ayelo-Scheer S, Lauer A, Stout T, Wilson DJ, Weleber RG, Pennesi ME, Sahel JA, Yang P
Am J Ophthalmol 2022 Aug;240:285-301. Epub 2022 Mar 4 doi: 10.1016/j.ajo.2022.02.013. PMID: 35248547Free PMC Article

Prognosis

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Zernant J, Lee W, Nagasaki T, Collison FT, Fishman GA, Bertelsen M, Rosenberg T, Gouras P, Tsang SH, Allikmets R
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002733. PMID: 29848554Free PMC Article
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310

Clinical prediction guides

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR
Eye (Lond) 2021 May;35(5):1482-1489. Epub 2020 Jul 17 doi: 10.1038/s41433-020-1045-3. PMID: 32681094Free PMC Article
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Zernant J, Lee W, Nagasaki T, Collison FT, Fishman GA, Bertelsen M, Rosenberg T, Gouras P, Tsang SH, Allikmets R
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002733. PMID: 29848554Free PMC Article
Multifocal Best's disease: The importance of genetic tests.
Alba Linero C, Rodríguez Calvo de Mora M, España Contreras M, Hernando Ayala C
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):136-138. Epub 2017 Nov 14 doi: 10.1016/j.oftal.2017.08.003. PMID: 29150214
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...