Intrauterine Cataract Diagnosis and Follow-up

Key Findings & Data: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.

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Conclusion & Impact:The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive congenital cataract.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

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.

Özet

Bu makalede 21 haftalık iken ultrasonografi ile konjenital katarakt tanısı konulan fetüs sunuldu. Ebeveynler gebeliğin sonlandırılması ve fetüsün incelenmesine karar verdi. Fetal karyotip için amniyosentez yapıldı. Gebeliğin sonlandırılmasından sonra fetal otopsi yapıldı. Anne ve babanın periferik kan örneklerinden tüm ekzom dizi analizi (Trio-WES) yapıldı. Otopsi patoloji raporunda bilateral ön ve arka subkapsüler katarakt teyit edildi. Tüm ekzom dizi analizinde, konjenital kataraktla ilişkili CRYBB1 geninde daha önce gösterilmemiş, sınıf 3-önemi bilinmeyen varyant (c755A>G [P.Lys252Arg]), fetüsde homozigot, anne ve babada heterozigot saptandı. Elde edilen sonuç genetik olarak izole otozomal resesif konjenital katarakt ile uyumlu bulundu.

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Cite This Article

AKSAY, S., BİLDİRİCİ, İ., COŞAR, C. B., ALANAY, Y., CİĞERCİOĞULLARI, E. (2022). Intrauterine Cataract Diagnosis and Follow-up. Türk Oftalmoloji Dergisi, Cilt: 50 - Sayı: 4, 245–247. https://ajindex.com/articles/637701

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