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Received date: 23/06/2025 Published date: 22/07/2025 Clinical Case

Ultrasound And Magnetic Resonance Imaging In Prenatal Diagnosis Of Congenital Bilateral Anophthalmia: A Rare Clinical Case

Nodira M. Normuradova¹ , Xakim I. Shamirzaev²

¹DSc, Center for the Development of Professional Qualifications of Medical Workers, Ultrasound Diagnostics Department, Tashkent, Uzbekistan
²Radiologist, Medical center "Promed medion clinic", Radiology department, Tashkent, Uzbekistan

*Corresponding author

Nodira Normuradova, DSc, Center for the Development of Professional Qualifications of Medical Workers, Ultrasound Diagnostics Department, Tashkent, Uzbekistan
E-mail: n.normuradova@mail.ru

DOI: 10.55920/JCRMHS.2025.11.001509

Abstract

To discuss the diagnosis of fetal bilateral anophthalmia, which is a congenital two-sided absence of the eyeballs and is the most severe form of structural malformation of the eye. An ultrasound examination of a male fetus at 25 weeks of gestation revealed the absence of the eyeball and lenses on both sides. No other associated developmental anomalies were noted. Early ultrasound examinations at 11⁺³ weeks and 15 weeks of gestation did not reveal any orbital pathology. To clarify the diagnosis of isolated congenital bilateral anophthalmia, magnetic resonance imaging of the fetal face and head was performed. MR examination was carried out using a General Electric Optima 450i + GEM device, with 48-channel head coil, with the patient freely breathing in T2 SSFSE mode, in axial, coronal and sagittal projections, slice thickness 4 mm. During the MRI, the preliminary diagnosis was confirmed; the eyeballs and lenses were absent on both sides. No genetic studies were conducted due to the family's financial limitations. The pregnancy was terminated. A pathological examination confirmed the diagnosis of isolated bilateral anophthalmia. Prenatal diagnosis of bilateral anophthalmia has an important social significance. Prenatal diagnosis of isolated congenital bilateral anophthalmia using ultrasound diagnostics is possible from the end of the first to the beginning of the second trimester of pregnancy. Magnetic resonance imaging is of great importance in clarifying diagnosis of congenital anophthalmia.

Keywords: Bilateral Anophthalmia, Ultrasound Diagnostics, Magnetic Resonance Imaging Of The Fetus

Introduction

Anophthalmia is the complete absence of the eyeball in the orbit; it is a rare congenital malformation; the frequency of anophthalmia does not exceed 1 case per 30,000 newborns [1,2]. There are unilateral and bilateral anophthalmia [3]. Bilateral anophthalmia is the most severe form of structural ocular malformation [2]. Anophthalmia and microphthalmia cause blindness in 11% of blind children worldwide [1].

Anophthalmia can occur alone, in combination with other comorbidities, or as part of a syndromic pathology and exhibit wide clinical and genetic heterogeneity [1]. Anophthalmia can be caused by chromosomal abnormalities, including aneuploidy (trisomy 13 or trisomy 18), triploidy, translocations, deletions and duplications, which account for 20–30% of patients with anophthalmia, as well as various variants of pathology in individual genes, including PAX6, SOX2, OTX2 and CHD7 [1,4]. Mutations can be de novo or hereditary. In severe cases of bilateral anophthalmia, a genetic cause is now identified in approximately 80% of cases, with heterozygous de novo mutations being the most common with loss of function in SOX2 or OTX2 [1,2].

Early diagnosis of bilateral anophthalmia is of great social importance; unfortunately, there are still cases of children being born with bilateral anophthalmia [1,5,6]. This determines the importance of timely and accurate prenatal diagnosis of congenital anomalies. Prenatal diagnosis of bilateral anophthalmia is important for guiding parents regarding the prognosis and management of the child, as well as for genetic counseling for future pregnancies.

Accurate diagnosis of anophthalmia is possible in the prenatal period using ultrasound and magnetic resonance imaging [3]. This article is devoted to the possibilities of prenatal diagnosis of congenital anophthalmia using an example of a 25- week fetus gestation with bilateral absence of eyeballs.

Case Report

Patient A., 22 years old, first pregnancy, spouse 27 years old, the spouses are somatically healthy, have no bad habits, no heredity diseases, unrelated marriage, live in rural areas. During pregnancy, an ultrasound examination was performed at 11⁺³ weeks and at 15 weeks of gestation at the place of residence; no pathology of the eyeballs was detected. At 24 weeks of gestation, during the next routine ultrasound examination, the absence of eyeballs was suspected and the patient was referred to a specialized center. Ultrasound examination was carried out using a Samsung ultrasound device W80A (South Korea) using convex 4C-RS and volumetric RAB2-6 RS sensors. An ultrasound examination revealed a male fetus in the uterine cavity, which corresponded to 25 ⁺¹weeks of pregnancy. The estimated fetal weight (765 ± 115 g) corresponded to the 36th percentile. During an ultrasound examination in the area of the fetal orbits, the lenses on both sides were absent (Fig. 1). No other associated developmental anomalies were noted. To clarify the diagnosis of congenital bilateral anophthalmia, magnetic resonance imaging of the fetal face and head was recommended. The study was carried out using the General Electric Optima 450i + GEM device, with 48-channel head coil, with the patient freely breathing in T2 SSFSE mode, in axial, coronal and sagittal projections, slice thickness 4 mm. During MRI, the preliminary diagnosis was confirmed (Fig. 2). The family decided to terminate the pregnancy. Pathological examination confirmed the prenatal diagnosis.

Figure 1: Ultrasound examination of a fetus at 25 ⁺¹weeks of pregnancy with bilateral anophthalmia. Eyeballs and lenses are not visualized. a, b ) ultrasound sections of the eyeball area, lenses are absent, c) three-dimensional image of the fetal face.

Figure 2: MR image of a fetus at 25 ⁺²weeks of gestation with bilateral anophthalmia. Eyeballs and lenses are missing. a) axial T2-weighted magnetic resonance image, b) parasagittal T2-weighted magnetic resonance image and c) coronal T2 -weighted magnetic resonance image at the level of the eye sockets.

Figure 3: Ultrasound image of the fetal lens is normal in the form of a “hyperechoic ring” (for comparison). a) at 13 weeks of pregnancy; b ) at 20 weeks of pregnancy

Figure 4: MR image of a fetus at 24 weeks of gestation with normal eyeball formation (for comparison). The lens is visualized as an area of hypointense signal on T2 WI images. a) axial T2-weighted magnetic resonance image, b) parasagittal T2-weighted magnetic resonance image and c) coronal T2 -weighted magnetic resonance image at the level of the eyeball and lenses.

Discussion

Ultrasound assessment of the fetal eyeball is possible starting from the end of the first trimester of pregnancy [7]. Anechoic round eye sockets are visualized, within which the lenses are identified in the form of a “hyperechoic ring” (Fig. 3). The most optimal period for visualization of the eyeball and lenses in the fetus during ultrasound examination is 16-20 weeks of pregnancy [3,8]. In the third trimester of pregnancy, visualization of the lens is limited due to acoustic shadows formed behind the bones of the skull and face. Despite the fact that ultrasound assessment of the eyeball in the fetus is possible from 12-14 weeks of pregnancy, in this observation anophthalmia was not diagnosed in the early stages.

No less important in prenatal diagnosis of anophthalmia is genetic diagnosis. Next generation sequencing (NGS) is used to clarify genetic mutations [4,8]. This study has limitations due to the lack of genetic analysis data. The high cost of genetic tests creates obstacles in conducting a complete study.

In recent years, magnetic resonance imaging has been increasingly used in the clarifying diagnosis of congenital anomalies in the fetus [7-9]. For comparison, Figure 4 shows MR images of the normal structure of the eyeball in a fetus of the 24-week of gestation. According to the latest recommendation from ISUOG (International Society of Ultrasound in Obstetrics and Gynecology), magnetic resonance imaging for fetal examination is used as a targeted examination aimed at a specific organ to resolve a specific issue or a detailed examination for a standardized assessment of the entire anatomy of the fetus in the second trimester of pregnancy [9]. Despite the fact that the first publications devoted to the MR diagnosis of orbital anomalies in the fetus have appeared in 2000 [7], the diagnostic criteria for ocular malformations still remain relevant due to the relative rarity of some congenital eyeball malformations. Magnetic resonance imaging in clinical practice is used as a method for clarifying the diagnosis of congenital malformations of the fetus after ultrasound diagnosis. The advantage of MR images in the assessment of the eyeball in the fetus is the absence of influence on the quality of visualization of oligohydramnios, obesity in women, ossification of the fetal skull and facial bones, as well as the absence of radiation exposure.

Conclusion

Evaluation of the eyeball and lenses of the fetus using ultrasound diagnostics is possible starting from 12-14 weeks of pregnancy. Diagnosis of anophthalmia in the second trimester of pregnancy, in particular up to 22 weeks of gestation does not cause difficulties. Ultrasound diagnosis of congenital anophthalmia is based on the absence of an image of the lens in the form of a “hyperechoic ring” inside the anechoic eyeball. Early and timely diagnosis of bilateral anophthalmia in the prenatal period makes it possible to terminate the pregnancy with minimal complications. Magnetic resonance imaging is of great importance in the clarifying diagnosis of anophthalmia in the fetus.

Conflict of Interests: The authors have no conflict of interest to declare

References

Journal of Clinical Case Reports, Medical Images and Health Sciences (ISSN 2832-1286) is a peer-reviewed journal dedicated to publishing clinical images from all sectors of medicine. The goal of this magazine is to disseminate information about new discoveries and treatments in science and medicine.

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