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1986 1
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24 results

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Page 1
Ocular hypertension in Axenfeld-Rieger Syndrome.
Espinosa-Barberi G, Galván González JF, Antón A. Espinosa-Barberi G, et al. Rom J Ophthalmol. 2020 Oct-Dec;64(4):455-458. doi: 10.22336/rjo.2020.70. Rom J Ophthalmol. 2020. PMID: 33367186 Free PMC article.
Purpose: to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Method: Observational case report of a 43-year-old woman with background of OHT. ...A complete ophthalmologic examination was performed. Results: In the biomicroscopy, a …
Purpose: to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Method: Observational case repor …
Long-term follow-up of a patient with JAG1-associated retinopathy.
Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC. Cheema MR, et al. Doc Ophthalmol. 2021 Oct;143(2):237-247. doi: 10.1007/s10633-021-09836-w. Epub 2021 Apr 20. Doc Ophthalmol. 2021. PMID: 33877487
During follow-up, she was also noted to have progressive aortic root dilatation, posterior embryotoxon and an x ray diagnosis of butterfly vertebrae. Whole-exome sequencing revealed a novel c.2412C > A p.(Tyr804Ter) truncating mutation in JAG1 that was predict …
During follow-up, she was also noted to have progressive aortic root dilatation, posterior embryotoxon and an x ray diagnosis …
Alagille syndrome today.
Alagille D. Alagille D. Clin Invest Med. 1996 Oct;19(5):325-30. Clin Invest Med. 1996. PMID: 8889270 Review.
A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformat …
A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, pe …
Ocular abnormalities in Alagille syndrome.
Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, Mieli-Vergani G, Bird AC, Aclimandos WA. Hingorani M, et al. Ophthalmology. 1999 Feb;106(2):330-7. doi: 10.1016/S0161-6420(99)90072-6. Ophthalmology. 1999. PMID: 9951486
RESULTS: The most common ocular abnormalities in patients with AS were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc an …
RESULTS: The most common ocular abnormalities in patients with AS were posterior embryotoxon (95%), iris abnormalities (45%), …
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. da Palma MM, et al. Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):27. doi: 10.1167/iovs.62.7.27. Invest Ophthalmol Vis Sci. 2021. PMID: 34185059 Free PMC article.
Anterior segment abnormalities were present in 74% of the patients; of those, posterior embryotoxon was the most frequent finding. Abnormalities of the optic disc were found in 52%, and peripheral retinal abnormalities were the most frequent ocular finding in this s …
Anterior segment abnormalities were present in 74% of the patients; of those, posterior embryotoxon was the most frequent find …
Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. Bredrup C, et al. Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31. Am J Ophthalmol. 2008. PMID: 18672223
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. DESIGN: Retrospective, observational case series. METHODS: A multicenter study of 17 patients with molecularly confirme …
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of th …
Ocular findings in patients with cholestatic disorders of infancy: A single-centre experience.
El-Karaksy H, Hamed D, Fouad H, Mogahed E, Helmy H, Hasanain F. El-Karaksy H, et al. Arab J Gastroenterol. 2017 Jun;18(2):108-113. doi: 10.1016/j.ajg.2017.05.006. Epub 2017 Jun 3. Arab J Gastroenterol. 2017. PMID: 28583322
The commonest finding was unilateral/bilateral optic nerve drusen in 12 (10.7%), followed by posterior embryotoxon in 11 (9.8%). Ocular findings were observed in 64.3% patients with AGS, 50% patients with NPD, 30.8% cases with suspected PFIC type 1or 2, 28.6% …
The commonest finding was unilateral/bilateral optic nerve drusen in 12 (10.7%), followed by posterior embryotoxon in 11 (9.8% …
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N. Le H, et al. Am J Med Genet A. 2023 Jun;191(6):1639-1645. doi: 10.1002/ajmg.a.63186. Epub 2023 Mar 20. Am J Med Genet A. 2023. PMID: 36941760
Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions …
Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryo …
Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series.
Franco E, Iqbal N, Shah PR, Alabek M, Tripi KS, Prescott C, Scanga HL, Chu CT, Nischal KK. Franco E, et al. Cornea. 2023 Mar 1;42(3):344-350. doi: 10.1097/ICO.0000000000003155. Epub 2022 Nov 30. Cornea. 2023. PMID: 36455075
Twenty-six did not show structural anterior segment anomalies aside from posterior embryotoxon (n = 4), whereas 4 had bilateral CCO, of which 3 had preoperative images. ...RESULTS: In the 3 patients with preoperative imaging and CCO, a pattern of paracentral corneal …
Twenty-six did not show structural anterior segment anomalies aside from posterior embryotoxon (n = 4), whereas 4 had bilatera …
A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.
Qin Y, Gao P, Yu S, Li J, Huang Y, Jia D, Tang Z, Li P, Liu F, Liu M. Qin Y, et al. Mol Vis. 2020 Oct 4;26:670-678. eCollection 2020. Mol Vis. 2020. PMID: 33088171 Free PMC article.
RESULTS: Symptoms including anterior segment dysplasia of the eye (iris dysplasia, multiple pupils, and posterior embryotoxon), dental dysplasia, and periumbilical skin redundancy were present in all of the affected individuals. ...The genomic deletion cosegregated …
RESULTS: Symptoms including anterior segment dysplasia of the eye (iris dysplasia, multiple pupils, and posterior embryotoxon) …
24 results