title: Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
abstract: OBJECTIVE
  To describe in detail the clinical phenotype and electrophysiological features of three patients with Leber congenital amaurosis caused by mutations of AIPL1.
  
  
  METHODS
  Ophthalmologic examination, color fundus photography, detailed electrophysiological assessment, and screening of AIPL1 were undertaken in three subjects. One patient also underwent visual field testing and spectral domain-optical coherence tomography.
  
  
  RESULTS
  All three patients, two of whom were siblings, had histories consistent with Leber congenital amaurosis (severely reduced vision, poorly responsive pupils, and nystagmus presenting within the first year of life). However, each patient had recordable and similar electroretinograms (ERGs), which demonstrated absent cone-driven responses and slow insensitive scotopic responses. The first patient was found to have a homozygous Trp278 stop mutation in AIPL1, whereas the siblings were each found to have novel heterozygous mutations in AIPL1 (Leu17Pro and Lys214Asn).
  
  
  CONCLUSIONS
  Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs characterized by slow insensitive scotopic responses. Such responses are likely seen only in very young patients and may not be seen with the typical filter settings recommended by the ISCEV standards because of low-pass filtering. Progressive loss of residual ERG activity in young LCA patients with AIPL1 mutations suggests that gene replacement therapy will likely have to be performed early.
authors: Casey Eye Institute, Oregon Health & Science University, Portland, Oregon 97239, USA. pennesim@ohsu.edu
authors: Mark E
authors: ME
authors: Pennesi
authors: Niamh B
authors: NB
authors: Stover
authors: Edwin M
authors: EM
authors: Stone
authors: Pei-Wen
authors: PW
authors: Chiang
authors: Richard G
authors: RG
authors: Weleber
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D055253:Color Vision / Q000502:physiology; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D055254:Night Vision / Q000502:physiology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology*; D017422:Sequence Analysis, DNA; D035781:Siblings; D041623:Tomography, Optical Coherence; D014794:Visual Fields
chemical_list: C403625:AIPL1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D005136:Eye Proteins