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Clinical Heterogeneity in a Family With Mutations in USH2A

Eva Lenassi, MBBS, PhD1,2,3; Anthony G. Robson, PhD2,3; Linda M. Luxon, MBBS, PhD4,5; Maria Bitner-Glindzicz, MBBS, PhD6; Andrew R. Webster, MBBS, MD(Res)2,3
[+] Author Affiliations
1Eye Hospital, University Medical Centre, Ljubljana, Slovenia
2Institute of Ophthalmology, University College London, London, England
3Moorfields Eye Hospital, London, England
4Ear Institute, University College London, London, England
5National Hospital for Neurology and Neurosurgery, London, England
6Institute of Child Health, University College London, London, England
JAMA Ophthalmol. 2015;133(3):352-355. doi:10.1001/jamaophthalmol.2014.5163.
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Patients with Usher syndrome typically have progressive visual impairment due to retinitis pigmentosa (RP) and varying levels of deafness with or without vestibular involvement. Usher syndrome type 2 is the most common of the 3 clinical subtypes that have been described; it is associated with RP, moderate to severe congenital hearing impairment, and normal vestibular function. Autosomal recessive mutations in USH2A are the most common cause of Usher syndrome type 2.1 Although a high degree of clinical heterogeneity has been described in USH2A-related disease, the ocular phenotype is usually concordant within families. Herein, we describe 2 siblings harboring the same USH2A mutations (c.[1036A>C];[13316C>T], p.[Asn346His];[Thr4439Ile]) with very different ocular and electrophysiological phenotypes.

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Figure 2.
Electroretinograms (ERGs) and Pure-Tone Audiometry Findings in 2 Siblings With Biallelic USH2A Mutations

A, Full-field ERGs in case 1 (age 47 years) had undetectable results. The ERG findings in case 2 (age 43 years) were normal besides a marginally subnormal right dark-adapted 10.0 a-wave. Normal ERGs are also shown. B, Binaural high-frequency hearing loss was shown in cases 1 (age 39 years) and 2 (age 33 years) by pure-tone audiometry.

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Figure 1.
Fundus Photographs, Autofluorescence Images, and Optical Coherence Tomographic Images in 2 Siblings With Biallelic USH2A Mutations

A and B, Fundus photographs are shown to the left, autofluorescence images in the center, and optical coherence tomographic images to the right. Only right eyes are presented, but findings in both cases showed a high degree of interocular symmetry. A, Case 1 (age 47 years) shows typical signs of retinitis pigmentosa. B, Examination and retinal imaging findings in case 2 (age 43 years) were unremarkable.

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