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Quoted phrase not found in phrase index: "Isolated microphthalmia 5"
Page 1
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M. Taha Najim R, et al. Acta Ophthalmol. 2020 Dec;98(8):848-858. doi: 10.1111/aos.14427. Epub 2020 May 21. Acta Ophthalmol. 2020. PMID: 32436650 Free article.
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. ...METHODS: Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31. …
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndrom …
Cryptophthalmos: associated syndromes and genetic disorders.
Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA. Landau-Prat D, et al. Ophthalmic Genet. 2023 Dec;44(6):547-552. doi: 10.1080/13816810.2023.2237568. Epub 2023 Jul 26. Ophthalmic Genet. 2023. PMID: 37493047
Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis. ...Associated ocular abnormalities included corneal opaciti …
Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify ge …
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.
Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the "double ring" sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and e …
Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 …
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.
Ergun SG, Akay GG, Ergun MA, Perçin EF. Ergun SG, et al. Eur J Med Genet. 2017 Mar;60(3):200-204. doi: 10.1016/j.ejmg.2017.01.007. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111184
After exclusion of the genes that had been known to be the cause of microphthalmia, we performed homozygosity mapping and exome sequencing to clarify the genetic etiology of the bilateral microphthalmia in this family. ...It was also understood that microphthalmi …
After exclusion of the genes that had been known to be the cause of microphthalmia, we performed homozygosity mapping and exome seque …
Prenatal description of retinal coloboma.
Egloff C, Tassin M, Bault JP, Barjol A, Collin A, Simon I, Sibiude J, Mandelbrot L, Picone O. Egloff C, et al. J Gynecol Obstet Hum Reprod. 2020 Sep;49(7):101746. doi: 10.1016/j.jogoh.2020.101746. Epub 2020 May 11. J Gynecol Obstet Hum Reprod. 2020. PMID: 32438134
Retinal coloboma is a rare condition which is difficult to diagnose in foetuses. It can cause blindness. It can be isolated or associated with other malformations in various syndromes. ...We describe a case of prenatal ultrasound diagnosis of retinal coloboma at 27.5 …
Retinal coloboma is a rare condition which is difficult to diagnose in foetuses. It can cause blindness. It can be isolated or associ …
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- …
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. Holt R, et al. Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. Ophthalmic Genet. 2022. PMID: 36695497
Recently, variants in the Wnt-pathway gene Frizzled Class Receptor 5 (FZD5) have been identified in individuals with coloboma and rarely microphthalmia, sometimes with additional phenotypes and variable penetrance. ...CONCLUSIONS: Our findings indicate FZD5 variants …
Recently, variants in the Wnt-pathway gene Frizzled Class Receptor 5 (FZD5) have been identified in individuals with coloboma and rar …
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Reis LM, et al. Clin Genet. 2020 Nov;98(5):486-492. doi: 10.1111/cge.13824. Epub 2020 Aug 17. Clin Genet. 2020. PMID: 32729136 Free PMC article.
Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anophthalmia, and coloboma (MAC) spectrum. While many genes are known to cause colobomatous microphthalmia, relatively few have been report …
Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anopht …
Central Corneal Thickness in Aphakic Children With Microcornea-Microphthalmia.
Bayoumi NH, El Shakankiri NM. Bayoumi NH, et al. J Glaucoma. 2016 Jun;25(6):497-500. doi: 10.1097/IJG.0000000000000323. J Glaucoma. 2016. PMID: 27253817
The meanSD CCT, the corneal diameter, the measured IOP, the cup/disc ratio, and the axial length of the study patients and the controls were 667.0172.90 mum, 8.90.8 mm, 10.95.7 mm Hg, 0.10.1, 20.352.90 mm and 545.2228.14 mum, 11.70.5 mm, 5.31.8 mm Hg, 0.10.1, and N/ …
The meanSD CCT, the corneal diameter, the measured IOP, the cup/disc ratio, and the axial length of the study patients and the controls were …
The epidemiology of anophthalmia and microphthalmia in Sweden.
Källén B, Tornqvist K. Källén B, et al. Eur J Epidemiol. 2005;20(4):345-50. doi: 10.1007/s10654-004-6880-1. Eur J Epidemiol. 2005. PMID: 15971507 Free article.
During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rate of microphthalmia increased markedly during the observation period to reach a maximum in 1987 of about 1.5 per 10,000. ...No …
During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rat …
36 results