Literature DB >> 8456800

Natural history of blue sclerae in osteogenesis imperfecta.

D Sillence1, B Butler, M Latham, K Barlow.   

Abstract

Scleral hue is an important sign which distinguishes 2 broad groupings of patients, those with and those without blue sclerae with nonlethal osteogenesis imperfecta (OI). Individuals with OI type I have distinctly blue sclerae which remain intensely blue throughout life. In OI type III and OI type IV the sclerae may also be blue at birth and during infancy, but the intensity fades with time such that these individuals have sclerae of normal hue by adolescence and adult life.

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Year:  1993        PMID: 8456800     DOI: 10.1002/ajmg.1320450207

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  10 in total

1.  Progressive myopia due to posterior staphyloma in Type I Osteogenesis Imperfecta.

Authors:  Andrew Scott; Shahram Kashani; Hamish M A Towler
Journal:  Int Ophthalmol       Date:  2006-12-06       Impact factor: 2.031

2.  Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

Authors:  Frank Rauch; Liljana Lalic; Peter Roughley; Francis H Glorieux
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

3.  Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.

Authors:  Sanne Treurniet; Pia Burger; Ebba A E Ghyczy; Frank D Verbraak; Katie R Curro-Tafili; Dimitra Micha; Nathalie Bravenboer; Stuart H Ralston; Ralph de Vries; Annette C Moll; Elisabeth Marelise W Eekhoff
Journal:  Acta Ophthalmol       Date:  2021-05-19       Impact factor: 3.988

4.  Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Authors:  Hsiang-Yu Lin; Chih-Kuang Chuang; Yi-Ning Su; Ming-Ren Chen; Hui-Chin Chiu; Dau-Ming Niu; Shuan-Pei Lin
Journal:  Orphanet J Rare Dis       Date:  2015-12-01       Impact factor: 4.123

Review 5.  Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

Authors:  F S Van Dijk; D O Sillence
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

6.  Bilateral papilledema in a child with osteogenesis imperfecta.

Authors:  Selam Yekta Sendul; Cemile Ucgul Atilgan; Semra Tiryaki; Dilek Guven
Journal:  Eye Vis (Lond)       Date:  2016-10-17

7.  Dentinogenesis imperfecta type II in Swedish children and adolescents.

Authors:  K Andersson; B Malmgren; E Åström; G Dahllöf
Journal:  Orphanet J Rare Dis       Date:  2018-08-22       Impact factor: 4.123

8.  Computed and Subjective Blue Scleral Color Analysis as a Diagnostic Tool for Iron Deficiency: A Pilot Study.

Authors:  Hervé Lobbes; Julien Dehos; Bruno Pereira; Guillaume Le Guenno; Laurent Sarry; Marc Ruivard
Journal:  J Clin Med       Date:  2019-11-05       Impact factor: 4.241

Review 9.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096

10.  Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Authors:  Yousuke Higuchi; Kosei Hasegawa; Natsuko Futagawa; Miho Yamashita; Hiroyuki Tanaka; Hirokazu Tsukahara
Journal:  Mol Genet Genomic Med       Date:  2021-05-03       Impact factor: 2.183

  10 in total

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