Intrauterine Cataract Diagnosis and Follow-up
In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2020-08-01
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| Series: | Türk Oftalmoloji Dergisi |
| Subjects: | |
| Online Access: |
http://www.oftalmoloji.org/archives/archive-detail/article-preview/ntrauterine-cataract-diagnosis-and-follow-up/40091
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| _version_ | 1797922850081865728 |
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| author | Sevinç Aksay İbrahim Bildirici Cemile Banu Coşar Yasemin Alanay Engin Ciğercioğulları |
| author_facet | Sevinç Aksay İbrahim Bildirici Cemile Banu Coşar Yasemin Alanay Engin Ciğercioğulları |
| author_sort | Sevinç Aksay |
| collection | DOAJ |
| description | In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy was conducted. Whole exome sequencing (Trio-WES) analysis of the mother and father was done from peripheral blood samples. In the pathologic autopsy report, bilateral anterior and posterior subcapsular cataracts were confirmed. Whole exome sequencing analysis revealed a previously unreported class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]) of the CRYBB1 gene, which is associated with congenital cataract, that was homozygous in the fetus and heterozygous in the parents. The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive congenital cataract. |
| first_indexed | 2024-04-10T14:37:44Z |
| format | Article |
| id | doaj.art-ebd8f7bafa9743fd9fd977ba48e052c7 |
| institution | Directory Open Access Journal |
| issn | 1300-0659 2147-2661 |
| language | English |
| last_indexed | 2024-04-10T14:37:44Z |
| publishDate | 2020-08-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Oftalmoloji Dergisi |
| spelling | doaj.art-ebd8f7bafa9743fd9fd977ba48e052c72023-02-15T16:08:26ZengGalenos YayineviTürk Oftalmoloji Dergisi1300-06592147-26612020-08-0150424524710.4274/tjo.galenos.2020.0501413049054Intrauterine Cataract Diagnosis and Follow-upSevinç Aksay0İbrahim Bildirici1Cemile Banu Coşar2Yasemin Alanay3Engin Ciğercioğulları4 Mersin Şehir Hastanesi, Göz Kliniği, Mersin, Türkiye Acıbadem Mehmet Ali Aydınlar Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Perinatoloji Bölümü, İstanbul, Türkiye Acıbadem Mehmet Ali Aydınlar Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, İstanbul, Türkiye Acıbadem Mehmet Ali Aydınlar Üniversitesi Tıp Fakültesi, Pediyatri Anabilim Dalı, Pediyatrik Genetik Bölümü, İstanbul, Türkiye Acıbadem Mehmet Ali Aydınlar Üniversitesi Tıp Fakültesi, Patoloji Anabilim Dalı, İstanbul, Türkiye In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy was conducted. Whole exome sequencing (Trio-WES) analysis of the mother and father was done from peripheral blood samples. In the pathologic autopsy report, bilateral anterior and posterior subcapsular cataracts were confirmed. Whole exome sequencing analysis revealed a previously unreported class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]) of the CRYBB1 gene, which is associated with congenital cataract, that was homozygous in the fetus and heterozygous in the parents. The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive congenital cataract. http://www.oftalmoloji.org/archives/archive-detail/article-preview/ntrauterine-cataract-diagnosis-and-follow-up/40091 class 3 variant of uncertain significance (c755a>g [p.lys252arg])congenital cataractautosomal recessive inheritance |
| spellingShingle | Sevinç Aksay İbrahim Bildirici Cemile Banu Coşar Yasemin Alanay Engin Ciğercioğulları Intrauterine Cataract Diagnosis and Follow-up Türk Oftalmoloji Dergisi class 3 variant of uncertain significance (c755a>g [p.lys252arg]) congenital cataract autosomal recessive inheritance |
| title | Intrauterine Cataract Diagnosis and Follow-up |
| title_full | Intrauterine Cataract Diagnosis and Follow-up |
| title_fullStr | Intrauterine Cataract Diagnosis and Follow-up |
| title_full_unstemmed | Intrauterine Cataract Diagnosis and Follow-up |
| title_short | Intrauterine Cataract Diagnosis and Follow-up |
| title_sort | intrauterine cataract diagnosis and follow up |
| topic | class 3 variant of uncertain significance (c755a>g [p.lys252arg]) congenital cataract autosomal recessive inheritance |
| url |
http://www.oftalmoloji.org/archives/archive-detail/article-preview/ntrauterine-cataract-diagnosis-and-follow-up/40091
|
| work_keys_str_mv | AT sevincaksay intrauterinecataractdiagnosisandfollowup AT ibrahimbildirici intrauterinecataractdiagnosisandfollowup AT cemilebanucosar intrauterinecataractdiagnosisandfollowup AT yaseminalanay intrauterinecataractdiagnosisandfollowup AT engincigerciogulları intrauterinecataractdiagnosisandfollowup |