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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.
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. ...Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. ...
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. ...Bo …
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. Isolated A/M occurred in 16/35 cases, while somatic, psychomotor, neuroradiological and/or genetic pathology occurred in 19/35 case …
RESULTS: Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception …
Simple microphthalmos.
Weiss AH, Kousseff BG, Ross EA, Longbottom J. Weiss AH, et al. Arch Ophthalmol. 1989 Nov;107(11):1625-30. doi: 10.1001/archopht.1989.01070020703032. Arch Ophthalmol. 1989. PMID: 2818284
Simple microphthalmos was diagnosed in 22 patients on the basis of a normal-appearing eye and a total axial length at least 2 SDs below the mean for age. Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs bel …
Simple microphthalmos was diagnosed in 22 patients on the basis of a normal-appearing eye and a total axial length at least 2 …
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. ...RESULTS: Thirteen patients were included, 10 (77%) males …
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.
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 …
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27. Clin Genet. 2022. PMID: 35170016 Free article.
Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or wit …
Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, t …
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 …
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.
Esmer AC, Sivrikoz TS, Gulec EY, Sezer S, Kalelioglu I, Has R, Yuksel A. Esmer AC, et al. J Ultrasound Med. 2016 Oct;35(10):2285-91. doi: 10.7863/ultra.15.11040. Epub 2016 Aug 31. J Ultrasound Med. 2016. PMID: 27582535 Review.
It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. ...
It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We pres …
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 registe …
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