Publications by authors named "Johanna Gonzalez Rodriguez"

We report a case of acute angle closure with significantly elevated intraocular pressure 9 hours after implantation of a phakic intraocular lens for high myopia.

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Aims: To compare the outcomes of Ex-PRESS versus trabeculectomy at 3 years.

Methods: Consenting patients aged 18-85 years with medically uncontrolled open-angle glaucoma scheduled for trabeculectomy were included in this study. 63 subjects were randomised to undergo Ex-PRESS (32) or trabeculectomy (31).

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Objective: Wolfram syndrome (WS) is a severe autosomal recessive pleiotropic disease primarily characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. Earlier reports have shown that a proportion of WS cases may remain unrecognized due to misdiagnosis as type 1 diabetes mellitus (T1DM). The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1 gene mutations in those individuals meeting clinical criteria for the disease.

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We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

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Article Synopsis
  • The study aimed to analyze the genetic mutations in TGFBI, CHST6, and GSN genes among Mexican patients with various types of stromal corneal dystrophies.
  • A total of 16 patients underwent genetic tests, leading to the identification of specific mutations associated with conditions like lattice corneal dystrophy and Finnish-type corneal amyloidosis.
  • The findings enhance the understanding of genetic variations in corneal dystrophies and highlight the need for larger genetic studies in diverse populations for better comprehension of these conditions.
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