BACKGROUND AND PURPOSE:The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. To our knowledge, this anomaly has not been reported. Our purpose was to evaluate the incidence and severity of this anomaly in this syndrome.
Fifty-four normal tension glaucoma cases were studied to determine the value of several clinical tests for predicting the progression of the disease. Outflow facility, intraocular pressure (IOP) increase after water drinking, and diurnal changes in IOP were studied. Progression was determined on the basis of changes in visual sensitivity as measured on the Octopus 201. A minimum of four examinations of the central 30 degrees were conducted over a 3- to 7-year period. Progression of visual field defects was seen in 38.5% of eyes that had demonstrated some degree of abnormality in at least one of three clinical tests, while only 10.7% of those eyes that appeared normal on the basis of these tests showed such progression. The difference was significant (p < 0.04). These results suggest that the three clinical tests may be of value in detecting normal tension glaucoma eyes at risk for progression of visual field defects.
The major focus of this study is to evaluate the ophthalmic surgery performed to treat patients with various eye changes of dysthyroid ophthalmopathy (DO) in Japan. The medical charts of DO cases that underwent eye surgery at the Olympia Eye Hospital in 1999 were reviewed. In 1999, 898 patients underwent ophthalmologic examination at the thyroid eye clinic in our hospital, and 51 cases were excluded out of the first visiting cases because they were hyperthyroid only and not associated with ophthalmopathy. This study consists of 847 cases (151 male, 696 female), mean age of 40.9 +/- 14.7 years, age distribution of 10-84 years. Surgical therapy was used on 129 eyes of 93 cases (11%) among the 847 patients. Orbital decompression was performed on 26 eyes of 15 cases. Most Japanese patients are not associated with a strong degree of proptosis, showing on average less than 20 mm. Cases with 25 mm of proptosis were scarcely observed. Extraocular muscle surgery was performed on 84 eyes of 60 cases (bilateral 17 cases, unilateral 33 cases). Types of diplopia are as follows: upward gaze, 28 cases; outward gaze, 10 cases; downward gaze, 2 cases; and complex type, 10 cases. Concerning the pathogenesis of diplopia in DO, fibrotic change plays a dominant role, in which cicatrical adhesion to the surface of the muscle is always observed in extraocular muscle surgery. After removal of cicatrical adhesion, the forced duction is completely recovered. This explains the precise mechanism of this involvement. Eyelid surgery was used on 39 eyes of 30 cases (upper eyelid, 33 eyes; lower eyelid, 6 eyes). Eyelid surgery was indicated for treatment of various anterior eye changes including upper eyelid retraction, entropion of eyelids. Better results and few complications are considered attributable to the stabilization of orbitopathy.
Sagittal magnetic resonance imaging (MRI) scans of the eye and orbit were made of 30 eyes in 15 cases of dysthyroid ophthalmopathy (DO). On the basis of these scans, we sought to elucidate relationships between the morphological condition of the levator palpebrae muscle, fatty tissue in the upper eyelid and the superior, inferior recti muscles and the occurrence of such symptoms as lid retraction, lid swelling and vertical disturbance of eye movement. The levator palpebrae muscle was enlarged in all 15 DO eyes (100%) with upper eyelid retraction. In 16 (88.9%) of 18 eyes with apparent lid swelling, enlargement of the preaponeurotic fat or submuscular fat pad was clearly evident. In the control eyes, no such enlargement was seen in either the levator palpebrae muscle or orbital fatty tissue. The clear space between the superior recti and the levator palpebrae muscles that was seen in control eyes was absent in all five eyes that presented a disturbance in infraduction. In 8 (80%) of 10 eyes with a disturbance in supraduction, the inferior rectus muscle was enlarged and muscle extension was impaired. Sagittal MRI seemed to be a useful means of obtaining a better clinical understanding of a variety of eye symptoms associated with DO.
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