Fred C. Chu

The Familial Occurrence of Cutaneous Melanoma, Intraocular Melanoma, and the Dysplastic Nevus Syndrome

The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these two forms of melanoma are etiologically related. It is theoretically possible that the link between these two pigment cell malignancies may be the dysplastic nevus syndrome, and patients with the dysplastic nevus syndrome may have an increased risk of intraocular melanoma and cutaneous melanoma. We studied two new kindreds in which cutaneous melanoma, intraocular melanoma, and the dysplastic nevus syndrome occurred and conducted neuro-ophthalmologic examinations of 26 patients with hereditary cutaneous melanoma or the dysplastic nevus syndrome, or both. In the one family studied in detail, the cutaneous melanoma predisposition came from the paternal bloodline, whereas the intraocular melanoma occurred in the maternal bloodline. The ophthalmologic examinations disclosed neither intraocular melanoma nor suspicious or atypical choroidal nevi. Our limited data suggested that the association of intraocular melanoma with cutaneous melanoma and dysplastic nevus syndrome may be coincidental.

Blink‐saccade synkinesis

We studied two patients who could make saccades of normal velocity and amplitude only in association with a simultaneous blink. In one patient, the initiation of saccades was also facilitated by blinks. Both patients had signs of cerebellar or brainstem dysfunction, suggesting a posterior fossa localization for blink facilitation of saccadic velocity and amplitude.

Acquired Nystagmus in Early Childhood: A Presenting Sign of Intracranial Tumor

This study is a multicenter, retrospective report of 10 infants in whom acquired nystagmus was the initial sign of chiasmal/ parachiasmal glioma. Nine patients presented before the age of 10 months. The nystagmus, primarily described as pendular and asymmetric, was difficult to differentiate from and therefore most often diagnosed as spasmus nutans . On average in the ten patients, the intracranial glioma was not recognized for 8.6 months after the onset of nystagmus. In the five diagnosed as spasmus nutans , the mean delay in recognizing the tumor was 14.5 months. Three associated clinical findings were present or developed in these patients to distinguish this entity from spasmus nutans : optic atrophy in all ten patients, poor feeding due to diencephalic syndrome in 5 of 10, and increased intracranial pressure with hydrocephalus in 3 of 10. The acquired nystagmus in these infants was evidence of a life-threatening chiasmal/ parachiasmal glioma.

Culture-proven Cytomegalovirus Retinitis in a Homosexual Man with the Acquired Immunodeficiency Syndrome

A 35-year-old homosexual man with cytomegalovirus viremia developed retinitis. He also had a new syndrome consisting of a persistent T-lymphocyte deficit, pneumocystis pneumonia, recurrent Candida albicans esophagitis, skin ulcerations caused by herpes simplex virus, Type 2, disseminated Mycobacterium avium-intracellulare infection, and molluscum contagiosum. Histopathologic examination revealed bilateral necrotizing retinitis with virions in retinal, choroidal, and optic nerve tissues. Postmortem cultures of retina and vitreous were positive for cytomegalovirus.

Ocular Findings in Turner Syndrome: A Prospective Study

We performed complete ophthalmological examinations of 30 consecutive patients with Turner syndrome. Twenty-three had 45XO and 7 had 45XO/46XX karyotypes (mosaicism). Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients. Other eye findings included ptosis (16%), hypertelorism (10%), epicanthus (10%), and antimongoloid slants (10%). Red-green color deficiency was found in 10% of the patients. One patient had congenital periodic alternating nystagmus.

Ocular Abnormalities in Abetalipoproteinemia: A Clinicopathologic Correlation

The present paper documents the clinical characteristics and ocular pathology in a patient with abetalipoproteinemia. Noteworthy were: the predominant involvement of the posterior fundus characterized by a loss of photoreceptors; loss or attenuation of the pigment epithelium (producing a sharply demarcated white appearance on ophthalmoscopy); preservation of the submacular pigment epithelium with an excessive accumulation of lipofuscin (including bizarre laminar profiles by electron microscopy); invasion of the retina by macrophage-like pigmented cells. The retina and pigment epithelium in the periphery were morphologically normal. The patient died of a presumably unrelated brain tumor which was believed to have accounted for the terminal blindness and loss of ganglion cells in the retina.

Sensory Strabismus-Eso or Exo?

PURPOSE The type of horizontal strabismus from loss or impairment of vision is thought to depend on patient age at the time of vision loss. Association between the age at onset of vision loss and development of esotropia vs exotropia will be determined. METHODS Patients with a diagnosis of sensory strabismus and visual acuity of 20/40 or poorer were reviewed as well as patients with diagnoses consistent with the development of sensory strabismus. Parameters considered were age at onset of vision loss and type of strabismus. Patients were excluded if the age at onset was not clear. RESULTS Of 123 patients with sensory strabismus reviewed: 82 (67%) had unilateral vision loss; 41 (33%) had bilateral vision loss; 75 (61%) had congenital vision loss; 50 (67%) developed esotropia; 25 (33%) developed exotropia; 48 (39%) had acquired vision loss; 5 (10%) developed esotropia; and 43 (90%) developed exotropia. A significant difference was noted between age at onset and type of horizontal strabismus (X2= 37.44; P <.0001). CONCLUSION Of patients with congenital vision loss, 67% developed sensory esotropia and 33% developed sensory exotropia. Of those with acquired vision loss, 10% developed sensory esotropia and 90% developed sensory exotropia. Patients with congenital vision loss are significantly more likely to develop esotropia, P <.005, and those with acquired vision loss are significantly more likely to develop exotropia, P <.001.

Graphic Analysis of Paralytic Strabismus with the Lancaster Red-Green Test

We used the Lancaster red-green test to monitor changes in ocular alignment in patients with paralytic strabismus. By inferring the position of the right eye and that of the left eye at many different positions of gaze and then plotting the data on a graph, one can derive a static eye position curve. The location of the curve relative to the line depicting normal ocular alignment ( orthophoria ) indicates whether there is an esodeviation or an exodeviation . The slope of a line drawn tangent to the curve indicates, for that particular point, whether the deviation is concomitant or not and which eye is relatively weak or restricted and by how much. This graphic technique provides a simple, sensitive, and quantitative measure of ocular alignment that may be especially useful for detecting subtle changes in the relative positions of the two eyes. This method may be a useful adjunct in the planning and evaluation of therapy for patients with paralytic strabismus.

Effects of Halothane on Intraocular Pressure in Anesthetized Children

Intraocular pressure (IOP) measurements in children are usually performed under nitrous oxide and halothane anesthesia. We studied the effects of both time and end-tidal halothane concentration on IOP in 80 children (mean age ± SD = 4.5 ± 2.9 yr), to determine the most optimal time to make such measurements in anesthetized children. In 30 children the end-tidal halothane and nitrous oxide concentrations were kept constant while IOP was measured at 1-min intervals after the induction of anesthesia. Intraocular pressure did not change with time. In another 50 children 10P was measured immediately after induction, after 10 min of steady-state end-tidal halothane concentrations of both 0.5% and 1.0% in 66% nitrous oxide, and immediately after tracheal intubation. Intraocular pressure did not differ significantly at either halothane concentration but increased after tracheal intubation. We conclude that in patients anesthetized with halothane and nitrous oxide, IOP after induction remains constant over time and is not affected by end-tidal halothane concentrations up to 1.0% but is affected by tracheal intubation. Thus, the optimal time to measure IOP in children receiving up to 1% halothane in 66% nitrous oxide is during the first 10 min after induction, but before tracheal intubation.

The DAF syndrome

The DAF syndrome is an acronym suggested for a group of patients who present with the prominent signs of down gaze paralysis, ataxia, and foam cells. To the 30 patients reported in the literature under various headings we are adding nine whom we have studied.Characteristic are: onset in the first two decades of life, progression of the down gaze paralysis to involve up gaze and eventually horizontal gaze in a total supranuclear ophthalmoplegia; development of athetosis and spasticity in addition to the ataxia; extensive infiltration of bone marrow, spleen, liver, and other tissues with foam cells; and a variable degree of intellectual impairment. The sphingomyelinase level in white blood cells and in cultured fibroblasts may be decreased or may be normal. The underlying enzymatic defect and the relationship to other forms of the Niemann-Pick and Sea Blue Histiocyte syndromes are uncertain.