Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review
The purpose of this study was to report the ocular findings in an unusual case of ectrodactylyectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar situations in the literature. This study is an observational case report of a 13-year-old woman with...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2017-01-01
|
| Series: | The Pan-American Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.thepajo.org/article.asp?issn=2666-4909;year=2017;volume=16;issue=4;spage=118;epage=120;aulast=Parreira;type=0 |
| _version_ | 1819081642676846592 |
|---|---|
| author | Sonia Parreira Diana Silva Michele Farah Vera Lucia Mascaro |
| author_facet | Sonia Parreira Diana Silva Michele Farah Vera Lucia Mascaro |
| author_sort | Sonia Parreira |
| collection | DOAJ |
| description | The purpose of this study was to report the ocular findings in an unusual case of ectrodactylyectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar situations in the literature. This study is an observational case report of a 13-year-old woman with complaints of epiphora and red eye. On examination, she presented with lachrymal punctal agenesis and neo-vascularization in both eyes. She was treated medically and without any surgical intervention. Corneal changes in EEC can have a variable presentation. The etiology of such keratopathy seems to be due to several factors and limbal stem cell deficiency (LSCD) being the newest factor involved. Recurrent infection from lachrymal drainage obstruction and tear film instability are other risk factors for disease severity and progression. Since these patients present several anomalies, it is important, to follow an interdisciplinary approach to reduce complications and provide the best possible medical care. |
| first_indexed | 2024-12-21T20:04:02Z |
| format | Article |
| id | doaj.art-e366a6f13b2f430285afc2f782b35f2b |
| institution | Directory Open Access Journal |
| issn | 2666-4909 2666-4909 |
| language | English |
| last_indexed | 2024-12-21T20:04:02Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | The Pan-American Journal of Ophthalmology |
| spelling | doaj.art-e366a6f13b2f430285afc2f782b35f2b2022-12-21T18:51:54ZengWolters Kluwer Medknow PublicationsThe Pan-American Journal of Ophthalmology2666-49092666-49092017-01-01164118120Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature ReviewSonia ParreiraDiana SilvaMichele FarahVera Lucia MascaroThe purpose of this study was to report the ocular findings in an unusual case of ectrodactylyectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar situations in the literature. This study is an observational case report of a 13-year-old woman with complaints of epiphora and red eye. On examination, she presented with lachrymal punctal agenesis and neo-vascularization in both eyes. She was treated medically and without any surgical intervention. Corneal changes in EEC can have a variable presentation. The etiology of such keratopathy seems to be due to several factors and limbal stem cell deficiency (LSCD) being the newest factor involved. Recurrent infection from lachrymal drainage obstruction and tear film instability are other risk factors for disease severity and progression. Since these patients present several anomalies, it is important, to follow an interdisciplinary approach to reduce complications and provide the best possible medical care.http://www.thepajo.org/article.asp?issn=2666-4909;year=2017;volume=16;issue=4;spage=118;epage=120;aulast=Parreira;type=0ectrodactyly-ectodermal dysplasia-clefting syndrome; lachrymal anomalies; blepharoconjunctivitis; keratopathy; limbal stem cell deficiency. |
| spellingShingle | Sonia Parreira Diana Silva Michele Farah Vera Lucia Mascaro Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review The Pan-American Journal of Ophthalmology ectrodactyly-ectodermal dysplasia-clefting syndrome; lachrymal anomalies; blepharoconjunctivitis; keratopathy; limbal stem cell deficiency. |
| title | Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review |
| title_full | Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review |
| title_fullStr | Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review |
| title_full_unstemmed | Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review |
| title_short | Corneal Findings in Ectrodactyly Ectodermal Dysplasia Clefting Syndrome: Case Report and Literature Review |
| title_sort | corneal findings in ectrodactyly ectodermal dysplasia clefting syndrome case report and literature review |
| topic | ectrodactyly-ectodermal dysplasia-clefting syndrome; lachrymal anomalies; blepharoconjunctivitis; keratopathy; limbal stem cell deficiency. |
| url | http://www.thepajo.org/article.asp?issn=2666-4909;year=2017;volume=16;issue=4;spage=118;epage=120;aulast=Parreira;type=0 |
| work_keys_str_mv | AT soniaparreira cornealfindingsinectrodactylyectodermaldysplasiacleftingsyndromecasereportandliteraturereview AT dianasilva cornealfindingsinectrodactylyectodermaldysplasiacleftingsyndromecasereportandliteraturereview AT michelefarah cornealfindingsinectrodactylyectodermaldysplasiacleftingsyndromecasereportandliteraturereview AT veraluciamascaro cornealfindingsinectrodactylyectodermaldysplasiacleftingsyndromecasereportandliteraturereview |