{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:51Z","timestamp":1786976871177,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,3,18]],"date-time":"2016-03-18T00:00:00Z","timestamp":1458259200000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The National Foundation for Ectodermal Dysplasias"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi\u2010system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X\u2010linked 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\u2010consecutive, 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\u2010subspecialty 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\u201355 years). Eighty\u2010nine 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. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.31480","type":"journal-article","created":{"date-parts":[[2016,3,22]],"date-time":"2016-03-22T06:18:03Z","timestamp":1458627483000},"page":"59-63","source":"Crossref","is-referenced-by-count":28,"title":["Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients"],"prefix":"10.1002","volume":"172","author":[{"given":"Jordan D.","family":"Gisseman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honey H.","family":"Herce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,18]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"CalhounJS.2013. Department of Ophthalmology Mayo Clinic Jacksonville Florida Retina Image Bank.http:\/\/imagebank.asrs.org\/file\/7332\/retinal-coloboma."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1001\/archderm.1992.01680180102015","article-title":"Focal dermal hypoplasia syndrome","volume":"128","author":"Goltz RW.","year":"1992","journal-title":"Arch Dermatol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1970.04000010003001"},{"key":"e_1_2_7_6_1","first-page":"421","article-title":"Focal dermal hypoplasia syndrome","volume":"43","author":"Gorlin RJ","year":"1963","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)72621-2"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1177\/112067210401400216","article-title":"Retinal detachment in focal dermal hypoplasia","volume":"14","author":"Prenner JL","year":"2004","journal-title":"Eur J Ophthalmol"},{"key":"e_1_2_7_9_1","unstructured":"SuttonVR Van den VeyverIB.2008. Focal dermal hypoplasia. GeneReviews. 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