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Heterozygous mutati...
Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy
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- Abdalla-Elsayed, Maram E.A. (author)
- Jeddah Eye Hospital
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- Schatz, Patrik (author)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,King Khaled Eye Specialist Hospital
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- Neuhaus, Christine (author)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- Khan, Arif O. (author)
- Cleveland Clinic Abu Dhabi
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(creator_code:org_t)
- 2017
- 2017
- English 7 s.
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In: Molecular Vision. - 1090-0535. ; 23, s. 778-784
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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