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Year Number of Results
1995 1
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11 results

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Page 1
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene-based therapies....
Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the qu …
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.
METHODS: Patients with nanophthalmos and available family members received a comprehensive ophthalmological examination. ...Furthermore, heterozygous carriers of MFRP and PRSS56 should be screened for the presence of high hyperopia. Identifying nanophthalmos as an i …
METHODS: Patients with nanophthalmos and available family members received a comprehensive ophthalmological examination. ...Furthermo …
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.
RESULTS: A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. ...
RESULTS: A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detecte …
Workflow and treatment results for computer-aided design and 3D-printed conformer therapy of congenital anophthalmia and microphthalmia.
Groot ALW, Remmers JS, Lissenberg-Witte BI, de Meulenaere STJ, Talan D, Liberton NPTJ, de Graaf P, Moll AC, Saeed P, Hartong DT. Groot ALW, et al. Br J Ophthalmol. 2023 Sep;107(9):1239-1245. doi: 10.1136/bjophthalmol-2021-320882. Epub 2022 Apr 27. Br J Ophthalmol. 2023. PMID: 35477668
RESULTS: We included 18 cases (9 severe, 9 moderate) with a total of 174 conformers (88 severe, 86 moderate) and a mean follow-up of 2.8 years (range 1.3-4.8). The mean relative HPF increased from 77% to 93% with 16/17 cases reaching >80%, and 12/17 cases >90% symmet …
RESULTS: We included 18 cases (9 severe, 9 moderate) with a total of 174 conformers (88 severe, 86 moderate) and a mean follow-up of 2.8 yea …
Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13.
Varrone E, Lenhart P, Rao P, Weil N. Varrone E, et al. J AAPOS. 2022 Aug;26(4):207-210. doi: 10.1016/j.jaapos.2022.04.003. Epub 2022 Jun 11. J AAPOS. 2022. PMID: 35697318
This retrospective case series of 5 patients with trisomy 13 expands on what is known about the complex ocular findings associated with the condition and describes their clinical management, with a mean follow-up of 2 years. All 5 patients had microphthalmos and colobomas …
This retrospective case series of 5 patients with trisomy 13 expands on what is known about the complex ocular findings associated with the …
The frequency of genetic eye diseases in a genetic counseling center.
Elçioğlu N, Elçioğlu M, Fuhrmann W. Elçioğlu N, et al. Genet Couns. 1995;6(4):329-42. Genet Couns. 1995. PMID: 8775420 Review.
The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results …
The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, c …
Primary Transscleral Diode Laser Cyclophotocoagulation for Management of Glaucoma in Nanophthalmic Eyes.
Abdelrahman AM, Ismail YM. Abdelrahman AM, et al. J Glaucoma. 2024 Apr 1;33(4):e15-e18. doi: 10.1097/IJG.0000000000002284. Epub 2023 Aug 7. J Glaucoma. 2024. PMID: 37585376
PURPOSE: The aim of this study was to assess the efficacy and safety of double-row transscleral cyclophotocoagulation in controlling intraocular pressure in patients with secondary angle closure glaucoma due to nanophthalmos, not being controlled by medical therapy. …
PURPOSE: The aim of this study was to assess the efficacy and safety of double-row transscleral cyclophotocoagulation in controlling intraoc …
Management of glaucoma in patients with nanophthalmos.
Yalvac IS, Satana B, Ozkan G, Eksioglu U, Duman S. Yalvac IS, et al. Eye (Lond). 2008 Jun;22(6):838-43. doi: 10.1038/sj.eye.6702742. Epub 2007 Feb 9. Eye (Lond). 2008. PMID: 17293784
Records of patients with nanophthalmos were reviewed. Intraocular pressure (IOP), glaucoma medications, surgical success, visual acuity and complications were analyzed. ...The cumulative probability of success was 85% at 1 year, 78.5% at 2 years, 76.9% at 3 years, 70.6% at …
Records of patients with nanophthalmos were reviewed. Intraocular pressure (IOP), glaucoma medications, surgical success, visual acui …
Treatment of glaucoma in young nanophthalmic patients.
Kocak I, Altintas AG, Yalvac IS, Nurozler A, Kasim R, Duman S. Kocak I, et al. Int Ophthalmol. 1996-1997;20(1-3):107-11. doi: 10.1007/BF00212955. Int Ophthalmol. 1996. PMID: 9112173
METHODS: Considering the anatomic features and clinical characteristics, 22 eyes of 11 patients were identified as bilateral nanophthalmos. Intraocular pressures (IOP) were checked with Goldmann applanation or Keeler pulse-air 2000 tonometer, and Nd-Yag laser was used for …
METHODS: Considering the anatomic features and clinical characteristics, 22 eyes of 11 patients were identified as bilateral nanophthalmo …
11 results