Effects of PAX6 mutations on retinal function: an electroretinographic study

PURPOSE: To investigate the retinal function in aniridic patients with documented PAX6 mutations to determine the range of electroretinogram abnormalities in aniridic patients and to relate electroretinogram findings with specific PAX6 mutations. METHODS: Eleven patients with typical aniridia and fu...

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Bibliographic Details
Published in:American journal of ophthalmology 1998-08, Vol.126 (2), p.211-218
Main Authors: Tremblay, François, Gupta, Sanjoy K, De Becker, Inge, Guernsey, Duane L, Neumann, Paul E
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aniridia - genetics
Aniridia - physiopathology
Biological and medical sciences
Child
DNA-Binding Proteins - genetics
Electroretinography
Eye Proteins - genetics
Homeodomain Proteins
Humans
Infant
Medical sciences
Middle Aged
Mutation
Ophthalmology
Paired Box Transcription Factors
PAX6 Transcription Factor
Phenotype
Repressor Proteins
Retina - physiopathology
Uvea diseases
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Summary:PURPOSE: To investigate the retinal function in aniridic patients with documented PAX6 mutations to determine the range of electroretinogram abnormalities in aniridic patients and to relate electroretinogram findings with specific PAX6 mutations. METHODS: Eleven patients with typical aniridia and fully characterized PAX6 mutations underwent electroretinography. RESULTS: In all 11 patients, electroretinogram recordings were abnormal, ranging from mild to severe. Rod-related and cone-related activities were equally affected. The amplitude of the oscillatory potentials was the most reduced, followed by the b-wave, then to a milder degree the a-wave. Mutations affecting the paired domain of the PAX6 protein had the biggest impact on the electroretinogram amplitudes. Implicit times were increased in a subgroup with mutations affecting only the homeodomain. CONCLUSION: Patients with aniridia have varying degree of retinal dysfunction, ranging from severely abnormal to almost normal. The paired domain appears to have more impact on retinal function than other regions of the PAX6 protein. It is unclear whether mutations affecting the homeodomain lead to alteration of the photoreceptor function.
ISSN:0002-9394
1879-1891
DOI:10.1016/S0002-9394(98)00190-1