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AIPL1-Related Disorders

MedGen UID:
893623
•Concept ID:
CN239169
•
Disease or Syndrome

Recent clinical studies

Diagnosis

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

Supplemental Content

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