Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Autosomal dominant hereditary optic atrophy (ADOA), also known as Kjer's syndrome, is a common hereditary cause of progressive bilateral vision loss. Recent advancements in the understanding of the genetics of this condition have revealed that a single gene may account for a large portion of the clinical manifestations in these patients. It has long been recognized that in a not-insignificant number of ADOA patients, a number of "plus" symptoms may follow decades after vision loss. It is important that clinicians recognize the potential link to "plus" manifestations. The goal of this manuscript is to provide for the general ophthalmologist a practical outline of the genetics and clinical manifestations of ADOA and the ADOA+.

Monocular elevator paresis in neurofibromatosis type 2.

A retrospective review of 29 consecutive unselected patients referred for neuro-ophthalmic evaluation after the diagnosis of neurofibromatosis type 2 (NF2) showed that four of them had a monocular elevator paresis. In two of the four MRI demonstrated lesions, presumed to be schwannomas, of the third nerve. These findings indicate that monocular elevator paresis is a common neuro-ophthalmic finding in NF2, which the authors suspect is probably a sign of third nerve infiltration or compression by a schwannoma.

Acute idiopathic blind spot enlargement syndrome: a review of 27 new cases.

OBJECTIVE: To describe the clinical findings in patients with acute idiopathic blind spot enlargement (AIBSE). METHODS: Medical record review of 27 patients with AIBSE (without sufficient optic nerve head swelling to cause blind spot enlargement) seen in 2 academic neuro-ophthalmology units. RESULTS: All patients were women aged between 19 and 53 years. Twenty-three patients reported positive visual phenomena. Visual acuity was normal in 16 patients. All patients had enlarged blind spots of variable size and density. Dyschromatopsia and afferent pupil defects were prevalent. Ophthalmoscopic features included uveitis, mild optic nerve swelling, granularity of macular pigment, subretinal white dots, and peripapillary pigment disturbances. Twelve of the 13 patients who underwent fluorescein angiography had optic disc staining and 5 had retinal pigment epithelial lesions with late staining. Full-field electroretinogram results were normal in 8 of 9 patients, although focal electroretinogram results were abnormal in 8 of 9 patients. Photopsia always decreased but visual fields did not improve. Six patients experienced recurrence. CONCLUSIONS: The clinical features of AIBSE include photopsia, visual field defects, abnormal findings from fundoscopic and fluorescein angiography, and abnormal results of focal electroretinography. The disease affects the peripapillary retina and may cause an afferent pupillary defect. The striking predilection for the peripapillary retina suggests a local etiologic factor and distinguishes AIBSE from the multiple evanescent white dot syndrome. Unlike patients with multiple evanescent white dot syndrome, recovery of visual field did not occur in patients with AIBSE.

Concordance of bilateral temporal artery biopsy in giant cell arteritis.

OBJECTIVE: To determine whether the diagnostic sensitivity of bilateral temporal artery biopsy is superior to that of unilateral biopsy in cases of suspected temporal arteritis. MATERIALS AND METHODS: A retrospective analysis of the results of 60 bilateral temporal artery biopsies examined in an ophthalmic pathology laboratory. RESULTS: The histopathologic diagnosis in 13% of the biopsy pairs was discordant. There was a 5% chance of obtaining a positive biopsy result on the side opposite an initially negative biopsy result. CONCLUSIONS: Bilateral temporal artery biopsy is 5% more likely than unilateral biopsy to detect the characteristic histopathologic findings in patients with temporal arteritis.

Posterior subcapsular cataract in Degos disease.

PURPOSE: To report an association of posterior subcapsular cataract with Degos disease. METHOD: Case report of a 42-year-old man. RESULTS: A posterior subcapsular cataract developed in the patient's left eye at age 43 years, 1 year before his death. The diagnosis of Degos disease was confirmed pathologically by skin biopsy and at necropsy. CONCLUSION: Posterior subcapsular cataract may be associated with Degos disease in addition to previously reported findings, including visual field defects, third cranial nerve palsies, blepharoptosis, and optic atrophy.

Endothelial cell loss in irradiated optic nerves.

OBJECTIVE: Radiation optic neuropathy usually occurs months to years after exposure of the anterior visual pathways to ionizing radiation. It is characterized by high signal on gadolinium-enhanced T1-weighted magnetic resonance imaging. Radiation-induced endothelial cell damage resulting in blood-nerve barrier breakdown is hypothesized to produce this pattern, but histologic evidence of this in the optic nerve is lacking. We attempted to evaluate the effect of radiation on endothelial cells in the optic nerve. DESIGN: Case-controlled histologic study. METHODS: We studied the optic nerves of 16 enucleated eyes from patients with uveal melanoma treated with proton beam irradiation, 6 from normal eyes and 5 from eyes with unirradiated uveal melanomas. Binding of Ulex europaeus agglutinin I (UEA-I) lectin was used to identify endothelial cells in single paraffin sections. Transverse and longitudinal sections of vessels were counted in masked fashion. RESULTS: There were 49.4+/-6.9 transversely sectioned endothelial cells per millimeter of nerve in 6 optic nerves exposed to 0 to 1000 cGyE ("low-dose") compared with 17.3+/-5.3 in 10 nerves exposed to 5500 to 7000 cGyE ("high-dose") (P = 0.002). Longitudinally sectioned vessels stained with UEA-I were separately identified, with 11.5+/-2.1 in the low-dose group and 5.6+/-1.6 in the high-dose group (P = 0.044). The thickness and staining of the endothelial cell layer appeared greater in the high-dose group. Endothelial cell counts did not correlate with age, gender, acuity, or interval after irradiation. CONCLUSIONS: Increased radiation dosage to the optic nerve correlates with smaller numbers of endothelial cells.

Palinopsia and polyopia in the absence of drugs or cerebral disease.

OBJECTIVE: To report the occurrence of palinopsia and polyopia in patients who neither used drugs nor had diseases of the cerebral hemispheres, a group in which these visual symptoms have not been reported. METHOD: The patient records in the database of an academic neuro-ophthalmology unit were reviewed. RESULTS: Seventeen patients were identified in the database with the diagnosis of palinopsia or polyopia, of whom eight had diseases of the cerebral hemispheres, leaving nine patients for analysis. No patients with a history of drug toxicity were identified. In one patient the symptoms presented during an initial episode of demyelinative optic neuritis in the absence of clinical or laboratory evidence of cerebral lesions. In another patient they developed immediately after laser treatment of diabetic macular edema. A third patient developed the symptoms in association with visual loss from Leber's hereditary optic neuropathy. The other six patients were healthy individuals. CONCLUSION: Palinopsia and related visual symptoms can occur in otherwise healthy individuals and in patients with disease apparently confined to the eye or the optic nerve.