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

Year Number of Results
1971 1
1975 3
1977 3
1978 4
1979 6
1980 6
1982 1
1983 2
1984 5
1985 6
1986 7
1987 5
1988 4
1989 3
1990 6
1991 6
1992 6
1993 10
1994 7
1995 13
1996 22
1997 16
1998 28
1999 20
2000 19
2001 26
2002 19
2003 32
2004 25
2005 30
2006 31
2007 41
2008 46
2009 30
2010 35
2011 51
2012 47
2013 52
2014 56
2015 51
2016 51
2017 56
2018 55
2019 59
2020 87
2021 89
2022 73
2023 44
2024 22

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Quoted phrase not found in phrase index: "Abnormally large globe"
Page 1
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening f …
Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic fo …
Ichthyosis.
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R. Gutiérrez-Cerrajero C, et al. Nat Rev Dis Primers. 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. Nat Rev Dis Primers. 2023. PMID: 36658199 Review.
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. ...
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in def …
Clinical classification of age-related macular degeneration.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee. Ferris FL 3rd, et al. Ophthalmology. 2013 Apr;120(4):844-51. doi: 10.1016/j.ophtha.2012.10.036. Epub 2013 Jan 16. Ophthalmology. 2013. PMID: 23332590
Persons with large drusen or with pigmentary abnormalities associated with at least medium drusen should be considered to have intermediate AMD. ...Incorporating consistent nomenclature into the practice patterns of all eye care providers may improve communic …
Persons with large drusen or with pigmentary abnormalities associated with at least medium drusen should be considered to have …
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
MAIN OUTCOME MEASURES: Phenotypic characteristics of mitochondrial retinopathy. RESULTS: Genetic testing identified sporadic large-scale mitochondrial DNA deletions and variants in MT-TL1, MT-ATP6, MT-TK, MT-RNR1, or RRM2B. Based on retinal imaging, 3 phenotypes could be d …
MAIN OUTCOME MEASURES: Phenotypic characteristics of mitochondrial retinopathy. RESULTS: Genetic testing identified sporadic large-sc …
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R. Zhu T, et al. Br J Ophthalmol. 2021 May;105(5):694-703. doi: 10.1136/bjophthalmol-2019-315786. Epub 2020 Jul 16. Br J Ophthalmol. 2021. PMID: 32675063
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation. ...
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic ret …
Keratoglobus.
Cameron JA. Cameron JA. Cornea. 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. Cornea. 1993. PMID: 8500319
Associated ocular conditions included orbital pseudotumor, vernal keratoconjunctivitis in three patients, chronic marginal blepharitis with chronic eye rubbing, and glaucoma after penetrating keratoplasty surgery. Hydrops occurred in 19 of the 21 eyes with keratoglobus. Su …
Associated ocular conditions included orbital pseudotumor, vernal keratoconjunctivitis in three patients, chronic marginal blepharitis with …
Descemet membrane detachment.
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N. Singhal D, et al. Surv Ophthalmol. 2020 May-Jun;65(3):279-293. doi: 10.1016/j.survophthal.2019.12.006. Epub 2020 Jan 8. Surv Ophthalmol. 2020. PMID: 31923476 Review.
Major risk factors include advanced age, preexisting endothelial diseases like Fuchs dystrophy or abnormality in the Descemet membrane and stromal interface, hard cataract, prolonged surgical time, ragged clear corneal incisions, and inadvertent trauma with blunt instrumen …
Major risk factors include advanced age, preexisting endothelial diseases like Fuchs dystrophy or abnormality in the Descemet membran …
Pachychoroid neovasculopathy.
Pang CE, Freund KB. Pang CE, et al. Retina. 2015 Jan;35(1):1-9. doi: 10.1097/IAE.0000000000000331. Retina. 2015. PMID: 25158945
RESULTS: In all 3 eyes of 3 patients, aged 55 years to 63 years, there was Type 1 neovascularization overlying a localized area of choroidal thickening and dilated choroidal vessels seen with enhanced depth imaging optical coherence tomography. With indocyanine green angiography, …
RESULTS: In all 3 eyes of 3 patients, aged 55 years to 63 years, there was Type 1 neovascularization overlying a localized area of choroidal …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, larg …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, fr …
Neurocutaneous syndromes in art and antiquities.
Ruggieri M, Gentile AE, Ferrara V, Papi M, Praticò AD, Mudry A, Taruscio D, Micali G, Polizzi A. Ruggieri M, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):224-234. doi: 10.1002/ajmg.c.31917. Epub 2021 May 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34013593 Free PMC article. Review.
Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye with congenital abnormalities and/or tumors. Manifestations may also involve the heart, vessels, lungs, kidneys, endocrine gla …
Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye …
1,150 results