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Show 276 NEURO- OPTHALMOLOGY CONFERENCES Cases from the Washington National Eye Center Monthly Neuro- ophthalmology Conferences Edited by David M. Bachman, M. D. CASE 1. October 5, 1991 Dr. Martin Kolsky This 49- year- old woman was referred by her general ophthalmologist for a neuro- ophthalmologic consultation. She noted painless, blurred vision in the right eye on February 22, 1991. There were no associated headache or other neurological symptoms. A neurological examination was normal. Computed tomography ( CT) scan, with and without contrast, was normal. She was referred for a neuro- ophthalmology consultation on March 15, 1991, because of painless loss of vision in the left eye. There was a history of breast cancer with recurrences in 1986 and 1987. Neuro- ophthalmological examination on March 15, 1991 revealed best- corrected visual acuity of finger- counting nasally in the right eye, and 20/ 30 + 2 in the left eye. The eyelids, extraocular muscle balance, slit lamp examination, and glaucoma testing were all normal. She was unable to identify the demonstration plates of the AOHRR color book with her right eye, and she missed plates 3- 6 with the left eye. Humphrey 24- 2 automated static threshold perimetry revealed a dense central scotoma in the right eye, and mild central and superotemporal depressions in the left eye. There was some elevation of the nasal margin of both disks, with a very mild but definite hyperemic appearance. There was mild tortuosity of the peripapillary vessels. Emergency gadolinium- enhanced magnetic resonance imaging revealed bilateral canalicular and intracranial optic nerve enhancement. Workup, including CBC, sedimentation rate, ANA, FTA- Abs, serum protein electrophoresis, and Lyme titer, was negative. On March 19, she was treated with oral prednisone 100 mg orally daily for 3 days. The prednisone was tapered to 80 mg for 3 days, then 60 mg for 3 days, and decreased in 20- mg decrements until it was stopped 18 days later. Lumbar puncture revealed a normal I Cli" Neuro- ophthalmol. Vol. 12. No. - I. 1992 cerebrospinal fluid ( CSF) protein, glucose, and myelin basic protein, with no malignant cells or oligoclonal bands. Repeat examination on April 1, 1991 revealed visual acuity of finger- counting in either eye. Central scotomata were present in each eye. Both disks were hyperemic with early temporal pallor developing on the right ( Fig. 1A). There were " peculiar telangiectatic vessels" appearing in the inferior and possibly superior peripapillary retina on the left side ( Fig. 1B). Leber's neurovascular retinopathy was strongly suspected at this point, however, because of the appearance of the optic nerves on gadioliniumenhanced MRl, the profound visual loss, and the possibility of an inflammatory optic neuropathy, the patient was admitted to the hospital and treated with intravenous methylprednisolone 500 mg q6h for 3 days. On April 3, 1991 blood was sent to Dr. Donald R. Johns, of the Neurology Department at Johns Hopkins Hospital, where polymerase chain reaction identified a single nucleotide mutation of a guanine to adenine substitution at position 11,778 in the gene encoding the 4th subunit of NADH dehydrogenase. This test is 100% specific for Leber's hereditary optic neuropathy ( LHON), although 45% of patients have another mitochondrial DNA ( mtDNA) mutation, which is not detected by this same test. Members of the patient's enate family are now being tested for this mutation. Since men do not pass the mutation on to their offspring, only relatives on her mother's side need to be tested. The majority of people who carry the Leber's 11,778 mutation will not become symptomatic, and males are clinically affected 5 to 6 times as frequently as females. However, unaffected females can serve as carriers who pass the mutant gene to all of their offspring. The presence of the 11,778 mutation appears to be necessary, but not alone sufficient, for the phenotypic expression of LHON. Without some other, as yet unrecognized, factor, the disease is not manifested. It is also interesting that NEURO- OPTHALMOLOGY CONFERENCES 277 ( AI ( BI FIG. 1. Case 1. ( A) Fundus photograph of right eye, showing temporal optic nerve pallor. ( B) Fundus photograph of left eye, showing telangiectatic vessels at inferior pole ( arrow) and superior pole of optic nerve head. 75% of molecularly proven LHON cases have a negative family history. The patient was examined on May 13, 1991, and had improved to 3/ 400 in the right eye and 5/ 400 in the left eye. She was given a + 14.00 magnifier and low- vision training. REFERENCES Newman NJ, Lot! MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy witil the 11778 mutation. Am / Ophlha/ 1110/ 1991; 111: 750- 762. Nikoskelainen EK, Savontaus M, Wanne OP, et al. Leber's he-reditarv optic neuroretinopathy, a maternally inherited disease. Arch Ophlhalmol 1987; 105: 665-- 71. CASE 2. November 2, 1991 Dr. Benjamin Frishberg A 25- year- old woman was referred to me for the evaluation of the sudden loss of peripheral vision of the left eye in May 1991. Her ophthalmologist had noted a branch retinal artery occlusion. She had a history of seizures. Her first major motor seizure occurred during sleep 4 years previ- I C1Jll NCliro- oplltl", l", ol, Vol. 12, No. 4, 1992 ( B) t FIG. 2. Case 2. ( A) Fundus photograph of initially involved left eye, showing several branch retinal arteriolar occlusions ( arrows). ( B) Fundus photograph 5 months later, showing large zone of retinal edema superotemporal to the fovea of the right eye ( arrows delineate edematous retina). ( C) Fundus photograph 1 day after Fig. 28, showing several branch retinal arteriolar occlusions ( arrows). NEURO- OPTHALMOLOGY CONFERENCES 279 ously. She was started on Tegretol, with good control of seizures. She had a 2- to 3- year history of unilateral and bilateral headaches, fairly severe, associated with photophobia, sonophobia, and nausea but no vomiting. She smoked 1V2 packs of cigarettes daily. Visual acuity was 20/ 20 in either eye, with normal color vision. Extraocular movements were full. Her visual fields showed fairly marked constriction in her left eye. The asymptomatic right eye also had some evidence of clear- cut field loss, which did not respect either the vertical or horizontal midline. She had a 1- 2+ relative afferent pupillary defect in the left eye. Funduscopic examination of the left eye showed multiple branch retinal arteriolar occlusions, fortunately sparing the macula ( Fig. 2A). There was marked retinal edema in the areas of occlusion. The examination of the right eye was normal. Intravenous fluorescein angiography confirmed multiple branch retinal arteriolar occlusions. She underwent a thorough neurological workup, which was unrevealing. MRI scan showed evidence of small vessel disease in the cerebral white matter. Dr. Louis Caplan ( Chairman and Professor of Neurology, Tufts University Medical School): We see this sometimes in people who have thrombocytosis, hypertryglyceridemia or chylomicra, or different sorts of abnormal globulins. We have also seen vasculitis cause this. Something that was described by Susac and Lessell several years ago was termed microangiopathy of the eye, ear, and brain. Some had elevated protein in the CSF, some did not. The retinal vessels did not appear very inflamed. I would work up this patient's blood and heart, and look for vasculitis. Dr. Frishberg: Anticardiolipin antibodies were negative. Comment: Periarteritis nodosa can cause sequential, bilateral central retinal artery occlusions ( Solomon and Solomon, 1978). Dr. Frishberg: We evaluated her for vasculitis, including an angiogram which was normal. A rheumatologic evaluation was normal. Protein Sand protein C deficiency were ruled out. I started her on One aspirin a day, and asked her to stop smoking. She did well until September, when she had stopped her aspirin and started smoking again. She then developed peripheral visual loss in her right eye. She had multiple new arterial occlusions in her right retina, which spared her macula ( Fig. 2B). The next morning, she had marked loss of vision, and had suffered a cilioretinal arteriole occlusion in the right eye ( Fig. 2C). She had only hand- motion vision with some temporal field remaining. She was started on solu- Medrol 1 g intravenously twice daily. We thought she had idiopathic recurrent branch retinal arteriole occlusions. On the advice of Dr. Robert Murphy in Baltimore, we did not use Carbogen; he felt this would shunt blood to the choroidal circulation, resulting in less blood going to the retina. She was placed on agents to reduce intraocular pressure, and her eye was massaged. Unfortunately, she has had no return of vision. Subsequently, she had continued her aspirin and stopped smoking. I also placed her on Verapamil, a calcium- channel blocker, in light of her vascular headaches, which had increased to daily frequency. We repeated all of her blood work. The only thing that came back positive was cryoglobulins, which, upon repeat- testing, were negative. I believe she has what Johnson and colleagues ( 1989) have termed " recurrent idiopathic branch retinal artery occlusion in the young." Dr. Louis Caplan: I think that this is related to her headaches, migraine, and possibly smoking; similar to the case recently published by Burger and coworkers ( 1991) in the New England Journal of Medicine, which shows vasospasm of retinal arterioles in ocular migraine. REFERENCES Burger SK, Saul RF, Selhorst JB, Thurston SE. Transient monocular blindness caused by vasospasm. N Eng/ l Med 1991; 325: 870- 3. Coppeto JR, Currie IN, Lesell S. A syndrome of arterial occlusive retinopathy and encephalpathy. Am l Ophtha/ mo/ 1984; 98: 189- 202. Haskjold E, Froland 5, Egge K. Ocular polyarteritis nodosa: report of a case. Acta Ophtha/ mo/ ( Copenh) 1987; 65: 749- 51. Johnson MW, Flynn HW Jr, Gass JD. Idiopathic recurrent branch retinal arterial occlusion. Arch Ophthalmol 1989; 107: 757 Lightman DA, Brod RD. Branch retinal artery occlusion associated with Lyme disease. Arch Ophtha/ mo/ 1991; 109: 1198- 9. Nelson ME, et al. Recurrent multiple branch retinal arterial occlusion in a patient with protein C deficiency. Graefes Arch Clill Exp Ophtha/ mo/ 1989; 227: 443- 7. Solomon SM, Solomon JH. Bilateral central retinal artery occlusions in polyarteritis nodosa. Ann Ophtha/ mol 1978; 10: 567- 9. Winterkorn JMS, Teman AJ. Recurrent attacks of amaurosis fungax treated with calcium- channel blocker. Ann Neuro/ 1991; 30: 423- 5. / Oil! Neuro- ophthallllol, Vol. 12, No. 4. 1992 |
