U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

AIPL1-related retinopathy

MedGen UID:
987938
•Concept ID:
CN305590
•
Disease or Syndrome
Synonym: AIPL1 retinopathy
 
Monarch Initiative: MONDO:0100438

Definition

A retinopathy caused by biallelic variants in the AIPL1 gene. [from MONDO]

Recent clinical studies

Etiology

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M
Invest Ophthalmol Vis Sci 2010 May;51(5):2608-14. Epub 2009 Dec 3 doi: 10.1167/iovs.09-3734. PMID: 19959640Free PMC Article

Diagnosis

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M
Invest Ophthalmol Vis Sci 2010 May;51(5):2608-14. Epub 2009 Dec 3 doi: 10.1167/iovs.09-3734. PMID: 19959640Free PMC Article
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH
Arch Ophthalmol 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. PMID: 15249368

Prognosis

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH
Arch Ophthalmol 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. PMID: 15249368

Clinical prediction guides

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M
Invest Ophthalmol Vis Sci 2010 May;51(5):2608-14. Epub 2009 Dec 3 doi: 10.1167/iovs.09-3734. PMID: 19959640Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...