Retinal Dysplasia Mimicking Intraocular Tumor: MR Imaging Findings with Histopathologic Correlation

Abstract

SUMMARY:We report a 6-month-old boy who presented with unilateral leukocoria, retinal detachment, and a retrolental mass in a microphthalmic eye based on retinal dysplasia with concurrent optic nerve aplasia. Dysplastic retinal tissue, a rare congenital defect, may create a clinical and radiologic picture of an intraocular mass closely resembling tumor tissue. MR imaging findings with histopathologic correlation are presented to facilitate discrimination of the more common causes of leukocoria. Retinal dysplasia is a rare cause of childhood leukocoria, which can cause considerable diagnostic difficulty in the differentiation of benign and malignant intraocular pathology. When clinical diagnosis is uncertain, ocular MR imaging helps to characterize and differentiate between intraocular pathologies. However, in contrast to many lesions in the differential diagnosis of leukocoria, to our knowledge, detailed MR imaging findings in retinal dysplasia have not been previously reported. We report MR imaging findings of unilateral retinal dysplasia with concurrent optic nerve aplasia. Case ReportA 6-month-old boy was admitted with a history of a smaller left eye since birth and leukocoria for 1 month. He was born to nonconsanguineous parents at 41 weeks' gestation. Ophthalmic examination revealed no abnormalities in the right eye. The left eye was microphthalmic, with a corneal diameter of 9 mm (right, 10 mm). A yellowish-white retrolental mass, projecting from the inferomedial quadrant into the vitreous, was present (Fig 1). The mass in combination with retinal detachment obscured clear visualization of optic nerve disc and macula. Prominent irregular feeder vessels and small focal hemorrhages covered the surface of the mass. Differential diagnosis based on these findings included ciliary body medulloepithelioma, anteriorly located retinoblastoma, and persistent hyperplastic primary vitreous (PHPV).Ultrasonography showed a noncalcified mass with high reflectivity. MR imaging showed a mass arising from the nasal ciliary body region with high signal intensity (SI) on T1-weighted (T1WI) and low SI on T2-weighted (T2WI) images, combined with a normal-appearing vitreous and tent-shaped retinal detachment with subretinal exudate (Fig 2). The anterior chamber and lens showed no abnormalities. The right orbit, optic nerve, and portions of the optic chiasm related to the nerve were normal. The optic nerve and sheath complex were not visible within the left orbit or anywhere along the usual course of the nerve (Fig 2). Total aplasia of the left optic nerve was not combined with other congenital central nervous system (CNS) abnormalities. The mass showed intense homogeneous enhancement. Ultrasonography and MR imaging findings were more consistent with medulloepithelioma or PHPV, and a retinoblastoma could be ruled out. Five weeks later, enucleation was required due to enlargement of the mass with an increase of intraocular pressure, shallowness of the anterior chamber, and progression toward a phthisis bulbi.Histopathologic examin...

Detection of Calcifications in Retinoblastoma Using Gradient-Echo MR Imaging Sequences: Comparative Study between In Vivo MR Imaging and Ex Vivo High-Resolution CT

“…When calcifications are not detected, cross-sectional imaging studies can be used as a problem-solving technique. 12,13 MR imaging is the technique of choice for the evaluation of intraocular pathology, especially in children presenting with leukocoria. The guidelines for imaging retinoblastoma by de Graaf et al 7 serve as a checklist for minimal requirements for pretreatment diagnostic evaluation of retinoblastoma or mimicking lesions.…”

The value of magnetic resonance imaging in cases with unilateral retinal dysplasia

“…Furthermore, MRI can reveal accompanying central nervous system abnormalities in patients presenting with leukocoria. 2,3 The combination of retinal dysplasia with central nervous system abnormalities is considered to be a condition occurring in patients with bilateral disease. Although unilateral congenital dysplasia is not thought to be related to associated pathologies, which subsequently discards the need for additional examinations, 4 we present a very comparable case, which underlines the value of MRI.…”

US and MRI of pediatric ocular masses with histopathological correlation

“…If both eyes are affected, an association with several syndromes has been described (i.e. trisomy 13, or Walker-Warburg syndrome)[27]. If a careful family history and systemic evaluation in a male patient with retinal dysplasia documents blindness shortly after birth, mental retardation and hearing loss, a diagnosis of Norrie disease can be established [28].…”

“…There are often central stalks extending from the posterior lens to optic disc with completely detached retina causing highly disorganized microphthalmic eyes [31]. The intensity of MRI enhancement of dysplastic retinal tissue after contrast administration depends on the number and quality of vessels, but the characteristic linear structure of retinal detachment may be preserved [27]. Proliferation of intraocular tissue may cause leukocoria.…”