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
1955 1
1957 1
1963 1
1965 1
1968 5
1969 2
1970 3
1971 3
1972 4
1973 6
1974 7
1975 4
1976 5
1977 3
1978 5
1979 8
1980 5
1981 5
1982 6
1983 6
1984 12
1985 10
1986 8
1987 5
1988 9
1989 10
1990 12
1991 9
1992 12
1993 19
1994 12
1995 17
1996 18
1997 18
1998 20
1999 27
2000 15
2001 13
2002 22
2003 20
2004 24
2005 20
2006 29
2007 30
2008 19
2009 15
2010 33
2011 26
2012 29
2013 27
2014 32
2015 25
2016 38
2017 39
2018 45
2019 48
2020 48
2021 44
2022 59
2023 33
2024 17

Text availability

Article attribute

Article type

Publication date

Search Results

939 results

Results by year

Filters applied: . Clear all
Page 1
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F. Rigoli L, et al. Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. Int J Environ Res Public Health. 2022. PMID: 35328914 Free PMC article. Review.
Furthermore, recessive Wolfram-like disease without DM has been described. The prognosis of WS1 is poor, and the death occurs prematurely. Although there are no therapies that can slow or stop WS1, a careful clinical monitoring can help patients during the rapid progressio …
Furthermore, recessive Wolfram-like disease without DM has been described. The prognosis of WS1 is poor, and the death occurs prematu …
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
Molecular diagnosis is provided by the identification of a mutation in the OPA1 gene (75% of DOA patients) or in the OPA3 gene (1% of patients). PROGNOSIS: Visual loss in DOA may progress during puberty until adulthood, with very slow subsequent chronic progression in most …
Molecular diagnosis is provided by the identification of a mutation in the OPA1 gene (75% of DOA patients) or in the OPA3 gene (1% of patien …
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K. Verma IC, et al. Indian J Pediatr. 2018 Mar;85(3):228-236. doi: 10.1007/s12098-017-2453-7. Epub 2017 Oct 2. Indian J Pediatr. 2018. PMID: 28971364 Review.
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. ...
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling …
Current treatment options for treating OPA1-mutant dominant optic atrophy.
Ferro Desideri L, Traverso CE, Iester M. Ferro Desideri L, et al. Drugs Today (Barc). 2022 Nov;58(11):547-552. doi: 10.1358/dot.2022.58.11.3448291. Drugs Today (Barc). 2022. PMID: 36422516 Review.
In this review, we will summarize and discuss all the possible treatment options for DOA, in order to identify the current optimal management in these patients, whose visual prognosis remains unfortunately poor and unsatisfactory in the everyday clinical practice....
In this review, we will summarize and discuss all the possible treatment options for DOA, in order to identify the current optimal managemen …
Childhood optic atrophy.
Mudgil AV, Repka MX. Mudgil AV, et al. Clin Exp Ophthalmol. 2000 Feb;28(1):34-7. doi: 10.1046/j.1442-9071.2000.00254.x. Clin Exp Ophthalmol. 2000. PMID: 11345343
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S. Turan S. Bone. 2023 Feb;167:116615. doi: 10.1016/j.bone.2022.116615. Epub 2022 Nov 17. Bone. 2023. PMID: 36402365
Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatmen …
Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DS …
Clinical Assessment and Etiological Evaluation of Optic Nerve Atrophy.
Shrestha P, Sitaula S, Sharma AK, Joshi P. Shrestha P, et al. Nepal J Ophthalmol. 2021 Jan;13(25):73-81. doi: 10.3126/nepjoph.v13i1.29035. Nepal J Ophthalmol. 2021. PMID: 33981100
The etiology causing this condition is vast and regardless of underlying cause it carries bad visual prognosis and at times may be life threatening. The study aims to assess patients with optic nerve atrophy presenting to B.P. ...
The etiology causing this condition is vast and regardless of underlying cause it carries bad visual prognosis and at times may be li …
Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.
Shamsnajafabadi H, MacLaren RE, Cehajic-Kapetanovic J. Shamsnajafabadi H, et al. Cells. 2023 Aug 7;12(15):2013. doi: 10.3390/cells12152013. Cells. 2023. PMID: 37566092 Free PMC article. Review.
These variants remain silent until further and currently poorly understood genetic and environmental factors precipitate the visual loss. The clinical course that ensues is variable, and a convincing treatment for LHON has yet to emerge. ...Alternative therapeutic strategi …
These variants remain silent until further and currently poorly understood genetic and environmental factors precipitate the visual loss. Th …
Progression of optic atrophy in traumatic optic neuropathy: retrograde neuronal degeneration in humans.
Sung JY, Lee HM, Lee SB, Kim KN, Lee YH. Sung JY, et al. Neurol Sci. 2022 Feb;43(2):1351-1358. doi: 10.1007/s10072-021-05448-z. Epub 2021 Jul 9. Neurol Sci. 2022. PMID: 34241727
OBJECTIVE: We used optical coherence tomography (OCT) to document the time course of retrograde neuronal degeneration following indirect optic nerve injury. ...
OBJECTIVE: We used optical coherence tomography (OCT) to document the time course of retrograde neuronal degeneration following indir …
Treatment strategies for Leber hereditary optic neuropathy.
Jurkute N, Harvey J, Yu-Wai-Man P. Jurkute N, et al. Curr Opin Neurol. 2019 Feb;32(1):99-104. doi: 10.1097/WCO.0000000000000646. Curr Opin Neurol. 2019. PMID: 30516647 Review.
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a poor visual prognosis. In this article, we review the development of treatment strategies for LHON, the evidence bas …
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population …
939 results