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.
(Less)
- author
- Abdalla-Elsayed, Maram E.A.
; Schatz, Patrik
LU
; Neuhaus, Christine
and Khan, Arif O.
- organization
- publishing date
- 2017-11-13
- type
- Contribution to journal
- publication status
- published
- subject
- 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
- 2022-02-14 23:56:50
@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}},
url = {{http://www.molvis.org/molvis/v23/778/}},
volume = {{23}},
year = {{2017}},
}