Isolated Congenital Hereditary Cataract in a Dizygotic Twin: Prenatal Ultrasonographic Diagnosis

Lee, Kyung A.; Park, Mi-Hye; Kim, Young Ju; Sun, Chun

doi:10.1017/thg.2013.50

Cited by 9 publications

(5 citation statements)

References 13 publications

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“…Table 1 summarizes previously reported cases of congenital cataracts diagnosed by fetal ultrasonography since 2000 [7,[10][11][12][13][14][15][16][17]. Most of the cases were bilateral with a family history, and the diagnosis was made in the second trimester of pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Early Detection and Treatment of Congenital Cataracts Using Fetal Ultrasound: A Case of a Newborn With a Family History of Congenital Cataracts

Ito,

Negishi,

Funayama

et al. 2024

Cureus

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This case study highlights the advances in fetal ultrasonography, illustrating its role in early detection and management of congenital cataracts. We present the case of a male infant with a family history of congenital cataracts, where an in-utero ultrasound examination at 25 weeks of gestation revealed potential cataracts. His mother and brother underwent cataract surgery. After birth examination revealed that the infant was diagnosed with bilateral congenital cataracts at two days. Bilateral lens aspiration and anterior vitrectomy without intraocular lens insertion were done. Postnatal examinations and surgical interventions, including bilateral lens phacoemulsification and anterior vitrectomy without intraocular lens insertion, were conducted. This study discusses the importance of early detection, especially in familial cases, and the role of prenatal and postnatal care in managing congenital cataracts. It underscores the need for collaboration between ophthalmologists and obstetricians and the value of psychological support for the parents. The findings advocate for proactive fetal monitoring, particularly in genetically predisposed cases, to facilitate early diagnosis and treatment planning.

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Section: Discussionmentioning

confidence: 99%

Early Detection and Treatment of Congenital Cataracts Using Fetal Ultrasound: A Case of a Newborn With a Family History of Congenital Cataracts

Ito,

Negishi,

Funayama

et al. 2024

Cureus

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“…In reviewing the literature, we identified 15 isolated congenital cataracts diagnosed antenatally (▶ Table 4) [6,9,[23][24][25][26][27][28][29][30]. Among these 15 cases, 8 cases had termination of pregnancy and 7 cases were liveborn.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases

et al. 2021

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Purpose To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. Materials and Methods We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. Results Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the “double ring” sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. Conclusion Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.

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“…Amblyopia therapy and frequent follow-up exams should be initiated as soon as feasible to ensure a favorable visual result after surgery. [1], [2], [3], [4], [5], [6], [7], [8] We chose a lensectomy technique without intraocular We plan to implant the IOLs when these babies become two years old to enhance satisfactory visual outcomes.…”

Section: Case Presentationmentioning

confidence: 99%

Comprehensive Management of Congenital Cataract in Dizygotic Twin Babies

Hapsari

Wahyuni

Loebis

2021

VSEHJ

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Introduction: One of the leading causes of infant blindness is cataract. The prevalence of congenital cataract has been estimated in the range between 1 and 15 per 10.000 children globally. Congenital cataract in twin babies is a rare case. This case will report the outcome of comprehensive management of congenital cataract in dizygotic twin babies. Case presentation: Eight months old dizygotic twin babies came to our clinic with the primary complaint of whitish appearance in the pupil of both eyes since birth. They were born aterm with cesarean delivery. The birth weight was 2.700 g and 3.100 g respectively. They were the fourth and fifth children in the family. There was no family history of congenital cataract. The visual acuity of both eyes was positive response to light stimuli. The cataract was bilateral and dense on both babies. Fundus reflex and TORCH examinations were negative. Ultrasonography (USG) of the retina was normal on both babies. Conclusions: Isolated congenital cataract in twin babies is an unusual condition that should be treated comprehensively. Congenital cataract may cause deprivation amblyopia, refractive amblyopia, and permanent vision impairment. Early diagnosis and quick treatment, such as surgical timing and visual rehabilitation, are critical to perform successful management. Comprehensive care is required to monitor the visual result of cataract surgery.

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Isolated Congenital Hereditary Cataract in a Dizygotic Twin: Prenatal Ultrasonographic Diagnosis

Cited by 9 publications

References 13 publications

Early Detection and Treatment of Congenital Cataracts Using Fetal Ultrasound: A Case of a Newborn With a Family History of Congenital Cataracts

Early Detection and Treatment of Congenital Cataracts Using Fetal Ultrasound: A Case of a Newborn With a Family History of Congenital Cataracts

Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases

Comprehensive Management of Congenital Cataract in Dizygotic Twin Babies

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