Xi Chen1, Wei-Xuan Zeng1, Bao-Ying Duan2, Yan-Yan Lin1, Jia Liu1, Zong-Duan Zhang1. 1. Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou 325027, Zhejiang Province, China. 2. Aier Eye Hospital, Kunming 650000, Yunnan Province, China.
Abstract
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members. RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations. CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family. International Journal of Ophthalmology Press.
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members. RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations. CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family. International Journal of Ophthalmology Press.
Authors: Enzo Di Iorio; Stephen B Kaye; Diego Ponzin; Vanessa Barbaro; Stefano Ferrari; Elisabetta Böhm; Paola Nardiello; Giuseppe Castaldo; John A McGrath; Colin E Willoughby Journal: Ophthalmology Date: 2011-09-28 Impact factor: 12.079
Authors: Michal Koubek; Kristýna Strakošová; Juraj Timkovič; Dagmar Grečmalová; Aneta Orlíková; Hana Burčková; Hana Wiedermannová; Petr Mašek Journal: Ophthalmic Genet Date: 2017-11-15 Impact factor: 1.803