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Updated: Jun 26, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Phenotypic features of patients with NR2E3 mutations
Sophia I Pachydaki1, Carolyn C Klaver, Irene A Barbazetto
1Department of Ophthalmology, Columbia University, New York, New York, USA.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|January 14, 2009
Summary
Genetic testing for NR2E3 mutations is crucial for diagnosing retinal degenerations. Novel mutations are linked to Goldmann-Favre syndrome and enhanced S-cone syndrome, highlighting variable phenotypes.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- NR2E3 gene mutations are associated with retinal degenerative diseases.
- Early-onset nyctalopia and retinal pigment abnormalities suggest potential NR2E3 involvement.
Observation:
- Five patients with familial and sporadic nyctalopia underwent NR2E3 gene mutation screening.
- Clinical, fundus, visual field, angiographic, and electrophysiologic data were analyzed.
Findings:
- Three NR2E3 mutations were identified: R311Q, Q350R, and a novel in-frame deletion (delF71).
- Homozygous R311Q mutations caused cataracts and extinguished electroretinograms.
- Heterozygous mutations presented as Goldmann-Favre syndrome or a potential forme fruste, with an enhanced S-cone syndrome electroretinographic pattern.
Implications:
- Molecular genetic testing is vital for accurate diagnosis of NR2E3-related retinal degenerations due to phenotypic variability.
- Two novel NR2E3 mutations are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome.
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