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1989 1
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2020 1
2021 2
2022 1
2024 0

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Page 1
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Lang E, et al. Acta Ophthalmol. 2021 Jun;99(4):e594-e607. doi: 10.1111/aos.14615. Epub 2020 Sep 30. Acta Ophthalmol. 2021. PMID: 32996714 Free article.
Novel pathogenic variants in MFRP (c.497C>T, c.899-3C>A, c.1180G>A), and PRSS56 (c.1202C>A), and a recurrent de novo variant in FAM111A (c.1706G>A) in a patient with Kenny-Caffey syndrome type 2, were identified. In addition, we report co-inheritance of MFRP …
Novel pathogenic variants in MFRP (c.497C>T, c.899-3C>A, c.1180G>A), and PRSS56 (c.1202C>A), and a recurrent de novo variant in …
Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases.
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S. Qin Y, et al. Ultraschall Med. 2022 Dec;43(6):e125-e134. doi: 10.1055/a-1320-0799. Epub 2021 Mar 16. Ultraschall Med. 2022. PMID: 33728625 English.
Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and …
Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regard …
Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group. Shah SP, et al. Ophthalmology. 2012 Feb;119(2):362-8. doi: 10.1016/j.ophtha.2011.07.039. Epub 2011 Nov 4. Ophthalmology. 2012. PMID: 22054996
PURPOSE: To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC). DESIGN: Descriptive, observational, cross-sectional study of the United Kingdom. ...RESULTS: A total of 210 eyes (of 135 children) were affected by AMC, of …
PURPOSE: To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC). DESIGN: Descrip …
Management and visual acuity results of monocular congenital cataracts and persistent hyperplastic primary vitreous.
Scott WE, Drummond GT, Keech RV, Karr DJ. Scott WE, et al. Aust N Z J Ophthalmol. 1989 May;17(2):143-52. doi: 10.1111/j.1442-9071.1989.tb00504.x. Aust N Z J Ophthalmol. 1989. PMID: 2757829
Early age of surgery, prompt optical correction with contact lens and aggressive patching therapy are required for successful visual rehabilitation. Glaucoma, retinal or optic nerve pathology, surgery later than three months of age or combinations of these factors were ass …
Early age of surgery, prompt optical correction with contact lens and aggressive patching therapy are required for successful visual …