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Quoted phrase not found in phrase index: "Isolated microphthalmia 2"
Page 1
Anophthalmia and microphthalmia.
Verma AS, Fitzpatrick DR. Verma AS, et al. Orphanet J Rare Dis. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. Orphanet J Rare Dis. 2007. PMID: 18039390 Free PMC article. Review.
Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. ...SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a …
Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. ...SOX2 and PA …
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K. Fahnehjelm C, et al. Ophthalmic Genet. 2022 Apr;43(2):172-183. doi: 10.1080/13816810.2021.1989600. Epub 2022 Feb 2. Ophthalmic Genet. 2022. PMID: 35105264 Review.
RESULTS: Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception. ...Neuroimaging demonstrated pathology in 14/20 cases with corpus callosum dysgenesis (6/20) being the most common. The median total PedsQ …
RESULTS: Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception …
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 …
Demographics and histopathological characteristics of enucleated microphthalmic globes.
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY. Alkatan HM, et al. Sci Rep. 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. Sci Rep. 2022. PMID: 35347187 Free PMC article.
Globes were classified into 2 groups: severe microphthalmos (axial length or mean diameter less than 10 mm in infancy or 12 mm after age 1 year) and mild microphthalmos based on larger measurements. ...There was no significant correlation among gender, severi …
Globes were classified into 2 groups: severe microphthalmos (axial length or mean diameter less than 10 mm in infancy or 12 mm …
Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant.
Morhart P, Mardin C, Rauh M, Jüngert J, Hammersen J, Kehl S, Schuh W, Maier-Wohlfart S, Hermes K, Neubert A, Schneider M, Hein A, Woelfle J, Schneider H. Morhart P, et al. Eur J Pediatr. 2022 Jan;181(1):413-418. doi: 10.1007/s00431-021-04221-w. Epub 2021 Aug 5. Eur J Pediatr. 2022. PMID: 34355278 Free PMC article.
In addition, we observed a severe eye malformation (unilateral microphthalmia, optic nerve hypoplasia, and congenital retinopathy) associated with maternal SARS-CoV-2 infection in weeks 5 and 6 of embryonic development. ...Date of registration: November 18, 2 …
In addition, we observed a severe eye malformation (unilateral microphthalmia, optic nerve hypoplasia, and congenital retinopa …
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium. Tibrewal S, et al. Br J Ophthalmol. 2021 Jul;105(7):897-903. doi: 10.1136/bjophthalmol-2020-316910. Epub 2020 Aug 22. Br J Ophthalmol. 2021. PMID: 32829301
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphtha …
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into is …
Surgical and prosthetic treatment for microphthalmia syndromes.
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P. Wavreille O, et al. Br J Oral Maxillofac Surg. 2013 Mar;51(2):e17-21. doi: 10.1016/j.bjoms.2012.02.018. Epub 2012 Mar 30. Br J Oral Maxillofac Surg. 2013. PMID: 22464758
The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, and complex microphthalmia syndrome. ...Forty-four children were included (27 boys and 17 girls). Twenty-seven had unilateral microp …
The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, an …
ABCB6 mutations cause ocular coloboma.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. Wang L, et al. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226084 Free PMC article.
The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. A LOD score of 3.2 at teta = 0 was calculated for the mutation identified in this family. Sequence analysis was performed o …
The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generation …
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T. Shinar S, et al. Ultrasound Obstet Gynecol. 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. Ultrasound Obstet Gynecol. 2020. PMID: 32196785 Free PMC article.
In those with visual and/or endocrine impairment, developmental delay (median age at follow-up, 2.5 (interquartile range, 2.5-7.0) years) was common (80%) and mostly severe. Neonates with isolated septal agenesis and a lack of visual or endocrine abnormalitie …
In those with visual and/or endocrine impairment, developmental delay (median age at follow-up, 2.5 (interquartile range, 2.5- …
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H. Matsushita I, et al. Jpn J Ophthalmol. 2020 Nov;64(6):635-641. doi: 10.1007/s10384-020-00766-9. Epub 2020 Aug 28. Jpn J Ophthalmol. 2020. PMID: 32857266 Review.
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only …
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated di …
46 results