Ocular Manifestations of Congenital/Inherited Diseases

This 14-year-old boy presented with sudden visual loss of the right eye that occurred 3 weeks before and due to a central retinal vein occlusion. His ocular history was quite complicated. He had had a resection of a lymphangioma of the left upper lid at age 7 months and underwent left orbitotomy for this tumor at age 1. At age 5, he underwent another surgical procedure for the lymphangioma of the left upper lid. Finally, he had had a fourth procedure 1 year before for cosmetic re4asons. A CAT scan of the orbit he had had a few months before the visual loss showed no change in the bulk of his residual lymphangioma. The retinologist had obtained a normal ESR, CBC, PTT, VDRL, and serum viscosity, a SPEP showed a slight increase in gamma globulins. Because of concern that the contralateral orbital lymphagioma could have caused the CRVO, the retinologist obtained an MRI scan, which showed numerous unsuspected findings, leading to a neuro-ophthalmologic referral. A cavernous hemangioma with old hemorrhage was seen in the left cerebellum. Bilateral cerebellar venous angiomas were noted draining into an anomalous vein coursing within the anterior medullary velum. This vein passed through the fourth ventricle and into the aqueduct, then draining into the vein of Galen. Although the mother had denied that the boy had other congenital abnormalities, when a cerebral angiogram was discussed with her, she remembered that he had had an angiogram in childhood and a doctor had told her that he should not have another one. His pediatrician confirmed that he had a lymphangioma in the femoral regioin. Further inquiry about the family history revealed that the paternal uncle has a lymphangioma in his leg, as does this uncle's daughter. The proband has one sibling who is mentally retarded. A hypercoagulability workup, including proteins C and S, antithrombin 3, and antiphospholipid antibodies, was normal. The CRVO was quite hemorrhagic, and the retinologist treated him with oral corticosteroids, with significant recovery of vision.