April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies
M. H. Tan; H. V. Tran; A. J. Smith; R. Henderson; I. Russell-Eggitt; A. G. Robson; A. R. Webster; G. E. Holder; R. R. Ali; A. T. Moore
Author Affiliations & Notes
  • M. H. Tan
    Division of Molecular Therapy, UCL Institute of Ophthalmology, London, United Kingdom
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
  • H. V. Tran
    Division of Molecular Therapy, UCL Institute of Ophthalmology, London, United Kingdom
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
  • A. J. Smith
    Division of Molecular Therapy, UCL Institute of Ophthalmology, London, United Kingdom
  • R. Henderson
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
  • I. Russell-Eggitt
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
  • A. G. Robson
    Department of Electrodiagnostics,
    Moorfields Eye Hospital, London, United Kingdom
  • A. R. Webster
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
  • G. E. Holder
    Department of Electrodiagnostics,
    Moorfields Eye Hospital, London, United Kingdom
  • R. R. Ali
    Division of Molecular Therapy, UCL Institute of Ophthalmology, London, United Kingdom
    NIHR Biomedical Research Centre for Ophthalmology, London, United Kingdom
  • A. T. Moore
    Genetics and Paediatrics,
    Moorfields Eye Hospital, London, United Kingdom
    NIHR Biomedical Research Centre for Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships  M.H. Tan, None; H.V. Tran, None; A.J. Smith, None; R. Henderson, None; I. Russell-Eggitt, None; A.G. Robson, None; A.R. Webster, None; G.E. Holder, None; R.R. Ali, None; A.T. Moore, None.
  • Footnotes
    Support  Medical Research Council (MRC) UK ; European Union AAV-EYE ; Fonds National Suisse de la Recherche Scientifique ; SICPA Foundation
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 3087. doi:
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      M. H. Tan, H. V. Tran, A. J. Smith, R. Henderson, I. Russell-Eggitt, A. G. Robson, A. R. Webster, G. E. Holder, R. R. Ali, A. T. Moore; Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3087.

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Abstract

Purpose: : To report the spectrum of clinical phenotype and genotype associated with Lebers Congenial Amaurosis (LCA) and autosomal recessive childhood onset retinal dystrophy caused by AIPL1 sequence variants in a single institution.

Methods: : A total of 292 unrelated probands with LCA or childhood onset autosomal recessive retinal dystrophy were screened for mutations in AIPL1 using a combination of microarray LCA chip analysis (Asper-Ophthalmics) and bidirectional sequencing of 6 exons including splice donor and acceptor sites. The results of clinical evaluation, electrophysiology (ERG) and imaging were reviewed.

Results: : Seven homozygotes and 12 compound heterozygotes were identified. Of the compound heterozygotes, 8 patients had novel sequence variants. The age of patients at time of onset of symptoms ranged from birth to 48 months (mean age of onset=9.8+/-3.5 months [SEM]). Visual acuities ranged from no light perception to logMar 0.12.Thirteen patients (68%) presented with nystagmus. Nyctalopia was present in 10 (53%). Fundus appearance ranged from near-normal appearance to variable degrees of chorioretinal atrophy and peripheral bone-spicule pigmentation. White dots at the level of the retinal pigment epithelium were seen in 9 (42%) patients. Macular atrophy was present in 10 (53%), mostly in patients with homozygous or null mutations. OCT analysis showed variable retinal thinning. Goldman perimetry showed severe constriction. In 5 patients tested according to International Standards, rod ERG was undetectable in 7 of 10 eyes and markedly subnormal in 3 eyes of 2 subjects. Bright flash ERG a-waves were undetectable in 5 of 10 eyes and subnormal in the others. In the 3 subjects with detectable 30Hz flicker ERGs, waveforms were markedly delayed and reduced. In 4 individuals tested with surface peri-orbital electrodes, ERGs were undetectable or subnormal consistent with generalized cone and rod system dysfunction.

Conclusions: : Mutations in the AIPL1 gene result in a spectrum of phenotypes. Null mutations are more likely to be associated with severe retinal disease and maculopathy.

Keywords: gene screening • mutations • retinal degenerations: hereditary 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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