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Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy

Abdalla-Elsayed, Maram E.A.; Schatz, Patrik LU ; Neuhaus, Christine and Khan, Arif O. (2017) In Molecular Vision 23. p.778-784
Abstract

Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges.... (More)

Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of OTX2. Conclusions: This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.

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Contribution to journal
publication status
published
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in
Molecular Vision
volume
23
pages
7 pages
publisher
Molecular Vision
external identifiers
  • scopus:85035327303
ISSN
1090-0535
language
English
LU publication?
yes
id
9da6d98d-459a-4878-b458-a85239ab6b8a
alternative location
http://www.molvis.org/molvis/v23/778/
date added to LUP
2017-12-18 10:55:32
date last changed
2018-01-07 12:29:15
@article{9da6d98d-459a-4878-b458-a85239ab6b8a,
  abstract     = {<p>Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of OTX2. Conclusions: This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.</p>},
  author       = {Abdalla-Elsayed, Maram E.A. and Schatz, Patrik and Neuhaus, Christine and Khan, Arif O.},
  issn         = {1090-0535},
  language     = {eng},
  month        = {11},
  pages        = {778--784},
  publisher    = {Molecular Vision},
  series       = {Molecular Vision},
  title        = {Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy},
  volume       = {23},
  year         = {2017},
}