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112 results
  • [Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. [Journal Article]
    J Fr Ophtalmol 2019; 42(7):722-729Perez-Roustit S, Nguyen DT, … Bremond-Gignac D
  • CONCLUSIONS: In this study, the main ophthalmological sign was convergence insufficiency present in more than 60% of the patients. This highlights the importance of an orthoptic examination in patients with Ehlers-Danlos syndrome. Dry eye syndrome with tear film instability was frequent, even though the patients were young. Blue sclera was seen in 38% of the patients. We reported two patients with high myopia and one patient with keratoglobus in our cohort. No patients presented with angioid streaks, and mean pachymetry was normal in our series.An ophthalmological and orthoptic evaluation should be performed in all patients with Ehlers-Danlos syndrome to detect and treat ocular manifestations. If Ehlers-Danlos syndrome is suspected, ophthalmological examination can also provide support for the diagnosis.
  • Pellucid marginal degeneration: Detection, discrimination from other corneal ectatic disorders and progression. [Review]
    Cont Lens Anterior Eye 2019; 42(4):341-349Martínez-Abad A, Piñero DP
  • Pellucid marginal degeneration (PMD) is a non-inflammatory ectatic corneal disease characterized by a narrow band of corneal thinning separated from the limbus by a relatively uninvolved area 1-2 mm in width. It is a rare corneal disorder that shares many clinical characteristics with other corneal ectasias, such as keratoconus, keratoglobus or Terrien marginal degeneration. PMD usually starts la…
  • [Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. [Case Reports]
    Ophthalmologe 2019; 116(8):780-784Menzel-Severing J, Meiller R, … Atalay D
  • We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of bri…
  • Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. [Case Reports]
    Ophthalmic Genet 2018 Jan-Feb; 39(1):29-34Hardin JS, Zarate YA, … Warner DB
  • CONCLUSIONS: We document a spectrum of ophthalmic manifestations of ATS with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery. Our data support regular eye examinations for all patients carrying SLC2A10 mutations with follow-up tailored to clinical findings.
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