Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2010 1
2017 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF. Nguyen XT, et al. Int J Mol Sci. 2023 Apr 19;24(8):7481. doi: 10.3390/ijms24087481. Int J Mol Sci. 2023. PMID: 37108642 Free PMC article. Review.
As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. ...In this exciting era of emerging gene therapie …
As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of prog …
Diagnosis and Treatment of Non-24-h Sleep-Wake Disorder in the Blind.
Emens JS, Eastman CI. Emens JS, et al. Drugs. 2017 Apr;77(6):637-650. doi: 10.1007/s40265-017-0707-3. Drugs. 2017. PMID: 28229310 Review.
Instead, the overt rhythms controlled by the biological clock gradually shift progressively earlier or later (free run) in accordance with the clock's near-24-h period, resulting in a recurrent pattern of daytime hypersomnolence and night-time insomnia. Orally admin …
Instead, the overt rhythms controlled by the biological clock gradually shift progressively earlier or later (free run) in accordance …
RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Stingl K, Priglinger C, Herrmann P. Stingl K, et al. Klin Monbl Augenheilkd. 2024 Mar;241(3):259-265. doi: 10.1055/a-2227-3671. Epub 2024 Mar 20. Klin Monbl Augenheilkd. 2024. PMID: 38508214 Review. English.
Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital sta …
Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night bl …
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M. Hildebrand MS, et al. Laryngoscope. 2010 Dec;120(12):2489-93. doi: 10.1002/lary.21159. Laryngoscope. 2010. PMID: 21046548 Free PMC article.
However, affected family members also exhibited memory loss and night blindness. CONCLUSIONS: The novel COCH mutation affects the functionally important limulus factor C, Coch-5b2 and Lgl1 domain where most DFNA9 mutations have been localized. ...Memory loss and …
However, affected family members also exhibited memory loss and night blindness. CONCLUSIONS: The novel COCH mutation affects …
Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A. Ponjavic V, et al. Ophthalmic Genet. 1998 Dec;19(4):187-96. doi: 10.1076/opge.19.4.187.2305. Ophthalmic Genet. 1998. PMID: 9895243
RESULTS: The phenotype was consistent in the three affected males. The first subjective symptom was night blindness and the visual disability was more pronounced with increasing age. ...Electroretinograms demonstrate severe rod dysfunction and surprisingly normal co …
RESULTS: The phenotype was consistent in the three affected males. The first subjective symptom was night blindness and the vi …