Volume 5, Issue 1, March 2020, Page: 35-37
Ophthalmological Findings in Goltz Syndrome: A Case Report
Carolina da Silva Mengue, Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil
Manuel Augusto Pereira Vilela, Ivo Corrêa-Meyer Institute, Porto Alegre, Brazil; Medical School, Federal University of Health Sciences, Porto Alegre, Brazil
Received: Dec. 28, 2019;       Accepted: Jan. 18, 2020;       Published: Jan. 31, 2020
DOI: 10.11648/j.ijovs.20200501.17      View  100      Downloads  38
Focal dermal hypoplasia, or Goltz Syndrome, is a rare genetic x-linked autosomal dominant disorder. It affects multiple organs and systems, generally unilaterally, with extensive clinical variability. Despite the syndrome’s manifestations being predominantly cutaneous, the visual system also suffers characteristic alterations that are worthy of better elucidation. It is a rare disease that is little described in the literature, including in the area of ophthalmology. The objective of this paper is to report on a case we attended to and to discuss existing evidence about this syndrome. EVRS, female sex, 11 months old, referred to the Ophthalmology Service for assessment. Born at 29 weeks, cesarean section, transverse fetal position at birth, weighing 1620g at birth, born with several malformations. Given her phenotypic characteristics, the patient had already been diagnosed as having Goltz syndrome. Ophthalmological examination shows microphthalmia, nystagmus and esotropia in both eyes. Presence of asymmetric corneal opacity, bilateral aniridia and extensive coloboma of the lower retina in the right eye. Opaqueness of cornea and lens in the left eye, making it impossible to see the fundus oculi. The patient remained hospitalized in a neonatal ITU for 4 months from birth, and was discharged in a good overall state, weighing 3370g, receiving diet for gastrostomy. Continues to have multidisciplinary follow-up. This case has reported non-ophthalmological and ophthalmological alterations characteristic of Goltz syndrome, as well as other rare and interesting alterations. Studying them is necessary in medical practice to ensure adequate diagnosis and follow-up of these patients.
Focal Dermal Hypoplasia, Ectodermal Dysplasia, Microphthalmos
To cite this article
Carolina da Silva Mengue, Manuel Augusto Pereira Vilela, Ophthalmological Findings in Goltz Syndrome: A Case Report, International Journal of Ophthalmology & Visual Science. Vol. 5, No. 1, 2020, pp. 35-37. doi: 10.11648/j.ijovs.20200501.17
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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