April 2014
Volume 55, Issue 13
ARVO Annual Meeting Abstract  |   April 2014
Ophthalmological Manifestations of Focal Dermal Hypoplasia (Goltz syndrome): A Case Series of 18 patients
Author Affiliations & Notes
  • Honey Herce
    Pediatric Ophthalmology, Baylor College of Medicine - Texas Children, Houston, TX
  • Vernon R Sutton
    Molecular and Human Genetics, Baylor College of Medicine- Texas Children, Houston, TX
  • Footnotes
    Commercial Relationships Honey Herce, None; Vernon Sutton, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 4507. doi:
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      Honey Herce, Vernon R Sutton; Ophthalmological Manifestations of Focal Dermal Hypoplasia (Goltz syndrome): A Case Series of 18 patients. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4507.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: To provide institution-specific data regarding the ophthalmological manifestations of Focal Dermal Hypoplasia. Focal Dermal Hypoplasia or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. As of now, there have only been a few case reports of Goltz syndrome, but there has not been a dedicated study to assess the ophthalmologic manifestations. The purpose of this study is to report both the ophthalmological manifestations of Goltz syndrome and their frequencies in a large series of patients.

Methods: Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for Focal Dermal Hypoplasia as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Full ophthalmologic exams were done on each patient. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus and strabismus.

Results: The mean patient age was 12.8 years (1-55 years.) Eighty-nine percent of the patients were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%) and cataracts (11%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to light perception.

Conclusions: This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series of 18 patients reported.

Keywords: 539 genetics • 463 clinical (human) or epidemiologic studies: prevalence/incidence • 461 clinical (human) or epidemiologic studies: natural history  

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