Ocular torsion-direct measurement with indirect ophthalmoscope and protractor.

Objective measurement of the optic nerve head (ONH)-foveal angle, representing the torsional status of 40 eyes in 20 normal patients, was performed by fundus photography and compared to a method utilizing an indirect ophthalmoscope and protractor described herein. Photography established a mean ONH-foveal angle of 7.03 degrees (SD 2.94 degrees). Comparison with the indirect/protractor method revealed a mean difference of 1.10 degrees (SD 0.99) with a range of 0 degrees to 4 degrees between methods. The indirect/protractor method seems to provide a rapid, inexpensive, and accurate method of determining the degree of ocular torsion when compared to the fundus photograph method which requires greater patient cooperation and investment in time and equipment. The ONH-foveal angle varies widely among normal individuals (0 degrees to 16 degrees). Variation between left and right eyes of the same individual was not significant (1.15 degrees, SD 1.39 degrees), and if greater than 4 degrees, probably represents cyclovertical muscle dysfunction or restrictive orbitopathy. The converse, however, may not always be true as individuals with less than 4 degrees difference between eyes may have cyclovertical muscle imbalance.

Terminal transverse limb defects associated with familial cavernous angiomatosis.

Terminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid-forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium-DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.

Ophthalmologic manifestations of type B Niemann-Pick diseases.

Type B Niemann-Pick Disease (NPB) is a rare lysosomal storage disease resulting from diminished activity or deficiency of sphingomyelinase and is characterized by multi-system involvement with visceromegaly. Rare ocular involvement (the Macula Halo Syndrome) has been reported. Eight patients (ages 4-36) with NPB underwent complete ophthalmologic evaluations. All patients had periorbital fullness, a hitherto unreported clinical feature. Two patients had a classic Macula Halo Syndrome. One patient developed peri-macular granular deposits forming an incomplete Macula Halo over 5 years. Another patient had macular granular deposits and developed deterioration of central vision and abnormal visual evoked potentials. Ophthalmologic involvement in NPB is more common than previously described. Complete ophthalmologic evaluation is recommended in all patients suspected to have NPB.

Conjunctival and canalicular papillomas and ichthyosis vulgaris.

Papillomas of the lacrimal canaliculus are very rare tumors and, when encountered in clinical practice, usually present with unilateral epiphora due to obstruction of the lacrimal drainage system. Surgical excision is usually curative although, on occasion, they may recur. The following case report concerns a patient with autosomal-dominant ichthyosis vulgaris and conjunctival and canalicular papillomas.

Windows and blinking: techniques for enhanced ocular computed tomographic imaging.

Computed tomography (CT) has become an important diagnostic modality in the evaluation of ocular and orbital disease. A weakness of CT, however, is its inability to show clearly intraocular lesions that do not contain calcium. These images can be improved by the careful selection of window width and window level and by the use of a technique known as "blinking." The use of these enhancement techniques is illustrated in two cases of leukocoria in children.

Familial congenital superior oblique palsy.

Four pedigrees, each with two or more cases of congenital superior oblique palsy among immediate family members, are presented. Except for a single case report in 1926, this disorder has not been known to occur in a hereditary manner. Theories of pathogenesis of congenital fourth cranial nerve palsy are discussed, with special reference to the hereditary occurrence of this disorder. Analogy is drawn between the familial forms of congenital superior oblique palsy and Duane's syndrome.

Computed tomography with histopathologic correlation in children with leukokoria.

Computed tomography (CT) constitutes a major advance in noninvasive diagnostic investigation of children with leukokoria , especially where media opacities preclude adequate visualization of the posterior segment, and, performed in conjunction with other studies such as diagnostic ultrasonography, has significantly improved diagnostic accuracy. Although retinoblastoma, the commonest life-threatening cause of leukokoria , usually presents with characteristic CT findings of intraocular calcification, during extraocular extension, the orbital portions of the tumor are non-calcific and contrast dramatically with the intraocular portion. Currently CT is also the best available technique for diagnosis of trilateral retinoblastoma. Computed tomographic features of several types of pseudogliomas (a collective term for lesions commonly mistaken for retinoblastomas) are also discussed with histopathologic correlation. In persistent hyperplastic primary vitreous, a conical density in CT corresponded to detached and dysplastic retina. A high density layered opacity corresponded to subretinal blood. In Coats' disease and sclerosing endophthalmitis homogenous intraocular CT density corresponds to vitreous and subretinal exudates radiologically indistinguishable from non-calcific retinoblastoma. Long-standing retinal detachments in children occasionally presenting with leukokoria showed subtle homogenous intraocular densities on CT.

Combined phakomatoses: a case report of Sturge-Weber and Wyburn-Mason syndrome occurring in the same individual.

A patient exhibiting ocular and systemic manifestations of both Sturge-Weber and Wyburn-Mason syndrome is described. The ocular, dermatologic, and neurological findings are detailed. The simultaneous occurrence of more than one phakomatosis is rare, but several combinations have been described in the literature. This appears to be the first report of this particular combination of phakomatoses.

Sclerosing endophthalmitis in children: computed tomography with histopathologic correlation.

Three children with histopathologically diagnosed sclerosing endophthalmitis presumably secondary to Toxocara canis were studied by orbital computed tomography. The diffuse increased intraocular density present in the CT scans was indistinguishable from that observed in Coats's disease and non-calcifying retinoblastoma. Although retinoblastoma constitutes the major life-threatening cause of leukocoria in children, a number of other simulating conditions (pseudoglioma) can cause diagnostic confusion. In some cases of leukocoria it is exceedingly difficult to exclude the possibility of retinoblastoma without having to resort to enucleation. The availability of new non-invasive tests may make the distinction between retinoblastoma and pseudogliomas more easily attainable. Computed tomography (CT) has been shown to be of particular value in this regard by demonstrating intraocular calcification within retinoblastoma and rarely in lesions that stimulate it. CT may also be used to more appropriately plan therapy for children with retinoblastoma by assessing the status of the optic nerve and orbit. The exact role of CT in the evaluation of children with leukocoria, however, has not been completely established, since the computed tomographic features of several lesions that simulate retinoblastoma have not been described. The three most common causes of pseudoglioma are persistent hyperplastic primary vitreous, Coats's disease and sclerosing endophthalmitis. The latter entity when associated with a characteristic granulomatous inflammation is considered to represent the sequela of Toxocara canis infection of the eye. This report describes the computed tomographic findings in three cases of histologically diagnosed sclerosing endophthalmitis, presumably due to Toxocara canis.

Corneal ulcer disease in Bangladesh.

The problem of acute infectious corneal disease in Bangladesh is discussed. Environmental situations combined with socioeconomic conditions create significant blindness due to this disease in this country. Clinical differentiation into bacterial and fungal ulcers was usually impossible in the advanced stages of ulceration with which the patients presented. Serious logistical problems hinder therapy. Fungal ulcers fared worse than bacterial ulcers. Conjunctival flaps were unsuccessful in alleviating the former. Critical shortage of medication as well as corneal tissue for therapeutic transplantation added to the difficulties. Large-scale public health and educational measures are indicated for effective, long-term solution.

Management of periocular molluscum contagiosum in children.

Because there are no data concerning the association between periocular molluscum contagiosum (POMC) and toxic conjunctivitis, and since there are no established guidelines of acceptable treatment, we surveyed pediatric ophthalmologists in North America in order to analyze the results of their cumulative experience dealing with the disease. Approximately half of 341 cases of POMC were not associated with conjunctivitis; however the majority of cases were treated, occasionally with chemical ablatives or cautery. Many ophthalmologists preferred to use general anesthesia in the treatment of POMC. POMC was noted not only to regress spontaneously, but was also noted to recur after treatment. Because of the benign nature of the infection, indications to treat asymptomatic POMC are not clearly established.

Endodermal sinus tumor (yolk-sac carcinoma) of the orbit.

A 15-month-old boy with rapidly progressive proptosis had an unusual malignant germ-cell tumor of the orbit and nasopharynx identified as an endodermal sinus tumor (yolk-sac carcinoma). Endodermal sinus tumors arising in extra gonadal locations are highly malignant and generally lethal. The boy was treated with radiation and three-drug chemotherapy and has survived more than eight years.

Brown's syndrome in twins.

Monozygotic twin girls concordant for Brown's syndrome with reversed asymmetry are presented. This appears to be the first report of concordance for the presence of Brown's syndrome in twins. Embryological factors and a possible explanation for the etiology of this condition in the form as presented are discussed.