A rare case of unilateral anterior segment dysgenesis and limb deformity in a neonate

A 14-day-old male baby presented to the department of ophthalmology with redness, swelling, and watering in the right eye since birth. Ocular examination of the right eye revealed proptosis and anterior staphyloma with erythema of the upper lid; left-eye examination was unremarkable [Fig. 1a–c]. Computed tomography of orbit revealed enlargement of right globe with anterior protrusion, intact muscle cone, and absence of lens in the right globe [Fig. 1d]. Ultrasound B-scan of the globe revealed absence of lens echo in the right eye without any abnormality in the posterior segment [Fig. 1e, f]. Diagnosis of right-eye anterior staphyloma with congenital aphakia was made. Further systemic examination revealed foot anomaly with amputation defect, high arched palate, and hyperbilirubinemia (serum bilirubin: 24.8 mg/dL). Family history revealed that the child was delivered through cesarean section, out of a third-degree consanguineous marriage. Mother had seropositivity for human cytomegalovirus (HCV) in the postnatal period. There was a history of death of elder sibling 1 year back at birth. Further pedigree analysis excluded similar presentation in the family members on the maternal and paternal sides. Conservative management was done in the form of topical antiglaucoma and antibiotics. The grave visual prognosis of the right eye and the need for surgical intervention in the form of enucleation was explained to parents. The child was referred to a pediatrician for systemic stabilization. The child was lost to follow-up after the initial check-up.Figure 1: a) Anterior staphyloma right eye; b) Proptosis of the right eye with erythematous upper lid skin; c) High arched palate; d) Foot anomaly; e) CT orbit image showing normal bony structures with intact muscle cone with enlargement of the right eyeball, with the absence of lens; f) USG image of the right eye showing intact retina – choroid complex, absent lens echoDiscussion The presentation of this unilateral anterior segment dysgenesis is known to be associated with anomalies of antenatal HCV infection. This is a rare case of congenital anterior staphyloma with unilateral congenital aphakia. Variable presentations of anterior segment dysgenesis usually have a poor prognosis. The presence of such congenital anomalies indicates the importance of genetic analysis in the antenatal and postnatal periods along with proper counseling of parents to explain the impact of timely management of such disorders. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Topic: Ocular Disorders and Treatments
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences