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Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients
Author(s) -
Gisseman Jordan D.,
Herce Honey H.
Publication year - 2016
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31480
Subject(s) - medicine , hypoplasia , series (stratigraphy) , dermatology , pathology , anatomy , biology , paleontology
Focal Dermal Hypoplasia (FDH) 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. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non‐consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi‐subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1–55 years). Eighty‐nine percent 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%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients. © 2016 Wiley Periodicals, Inc.