title: Dystrophic hyaloid artery remnants and other abnormalities in a buphthalmic eye with retinoblastoma.
abstract: Partial persistence of the hyaloid artery unaccompanied by hyperplastic primary vitreous has not been previously reported in association with retinoblastoma. We describe an 18-month-old child with such a finding who had a retinoblastoma that was undifferentiated, extensively necrotic, heavily calcified, and completely filled the eyeball. The enucleated globe harbored a nonperfused, fossilized remnant of the hyaloid artery due to DNA/calcium deposition in the vascular wall. This structure inserted into a lenticular, extracapsular, fibrous plaque corresponding to a Mittendorf dot. The tumor had induced a placoid cataractous lens, obliterated the anterior and posterior chambers, caused glaucoma leading to buphthalmos, and extended into the optic nerve and extraocularly to involve the orbit. We conclude that the retinoblastoma arose early in ocular morphogenesis, at around 4 months gestation, when the programmed involution of the hyaloid artery begins. This process would typically end at 7-8 months gestation, but was aborted by the tumor. The patient died 6 weeks after surgery without receiving further treatment because of the parents' resistance.
authors.affiliation: Department of Ophthalmology, David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: Fred_Jakobiec@meei.harvard.edu.
authors.forename: Frederick A
authors.initials: FA
authors.lastname: Jakobiec
authors.affiliation: Department of Ophthalmology, David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Ruju
authors.initials: R
authors.lastname: Rai
authors.affiliation: Department of Ophthalmology, David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Alia
authors.initials: A
authors.lastname: Rashid
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
authors.forename: Justin
authors.initials: J
authors.lastname: Kanoff
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
authors.forename: Shizuo
authors.initials: S
authors.lastname: Mukai
mesh_terms: D002114:Calcinosis / Q000000981:diagnostic imaging / Q000473:pathology*; D002386:Cataract / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D015353:Eye Enucleation; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000473:pathology*; D007223:Infant; D009880:Ophthalmic Artery / Q000002:abnormalities* / Q000473:pathology; D019572:Retinal Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D012175:Retinoblastoma / Q000000981:diagnostic imaging / Q000473:pathology*; D014463:Ultrasonography
keywords: buphthalmos; cataract; crystalline lens; deformation of lens; dystrophic calcification; hyaloid artery; lens capsule; lens epithelium; retinoblastoma