Search

An 18-month-old white girl with incontinentia pigmenti presented clinically with leukokoria of the right eye. B-scan ultrasound demonstrated a retrolental mass consistent with a detached retina. Histologic examination of the skin revealed changes compatible with the intermediate verrucous phase of the disease. Microscopic examination of the right eye showed retinal detachment and nodular proliferation of the retinal pigment epithelium. The nodules contained macrophages laden with melanin and lipofuscin. An unusually large amount of lipofuscin was present for a child of this age. The basic pigmentary abnormality may affect the retinal pigment epithelium, resulting in changes in the overlying neurosensory retina that may lead to the retinal dysplasia or retinal detachemnt often associated with this condition.

A 57-year-old white woman presented with a small malignant melanoma of the choroid in the macular area of the right eye. The lesion failed to produce a visual field defect or to show fluorescence with angiography, but the radioactive phosphorus uptake(P) test was positive. Histologically, the retinal pigment epithelium was intact over the tumor and the sensory retina was normal. This unusual finding was the most likely explanation for the normal visual field. The intact retinal pigment epithelium over this nonfluroescent melanoma suggests that the destruction of the retinal pigment epithelium occurring with most choroidal melanomas may partially explain why these tumors usually demonstrate fluorescence. This case emphasizes the great accuracy of the P test for diagnosing small malignant tumors of the choroid, even before other popular diagnostic modalities indicate the malignancy of the lesion.

A 46-year-old man was found on routine ophthalmoscopic examination to have a pigmented choroidal lesion that was suggestive of a malignant melanoma. Because of its clinical appearance, associated visual field defect, and the results of fluorescein angiography, the eye was enucleated. Histopathologically, the lesion proved to be a benign melanocytoma of the choroid. Although little is known about the fluorescein-angiographic characteristics of melanocytomas of the choroid, the fluorescein angiogram suggested a malignant melanoma. The advisability of a conservative approach to such small pigmented fundus lesions is reemphasized.

• Fluorescein angiographic sequences from 31 patients with angioid streaks were evaluated. In contrast to previous reports, the streaks usually showed an early central zone of hypofluorescence. We postulated that the hypofluorescence was due to a break in Bruch membrane, causing a separation of the choriocapillaris. This resulted in an area of nonperfusion. Adjacent light-colored areas were hyperfluorescent, possibly due to abnormal retinal pigment epithelium, thickened Bruch membrane, and patent choriocapillaris. The hypofluorescence of the paired red-brown spots may have resulted from an increased pigment density. The intermittent hypofluorescent spots comprising the area of peau d'orange were thought due to focal dehiscences in Bruch membrane and the choriocapillaris. The hyperfluorescent isolated focal lesions may have resulted from an abnormal thickening of Bruch membrane and a patent choriocapillaris.

• Fifty-two patients (one bilateral) exhibiting hypertrophy with hyperpigmentation of the retinal pigment epithelium (RPE) are described. Visual acuity was not affected, and the patients were asymptomatic. There was no correlation with systemic diseases, family history of eye disease, associated fundus lesions, anterior segment abnormalities, or intraocular pressure. Field defects were rarely demonstrated using standard clinical techniques. There were three characteristic locations and four characteristic pigmentary variations that occurred alone or in any combination. The lesions were gray, black, or brown. The clinical characteristics and histopathology suggest that hypertrophy with hyperpigmentation of the RPE and congenital grouped pigmentation are different expressions of a similar condition, with the former being focal and the latter multifocal.

This report describes a patient with a meibomian gland carcinoma that presented clinically as a lacrimal gland tumor with only minimal involvement of the adjacent eyelids. There was metastatic involvement of a right preauricular lymph node. Initial biopsy examinations of both the lacrimal gland and the preauricular node revealed a poorly differentiated carcinoma, primary site undetermined. Orbital exenteration, however, revealed that the lesion was a multifocal sebaceous carcinoma involving both upper and lower eyelids. Although meibomian gland carcinoma is not usually included in the differential diagnosis of tumors of the lacrimal gland, it should be considered when the clinician is confronted with a solid tumor in the fossa of the lacrimal gland.

The cryptophthalmos syndrome consists of cryptophthalmos, dyscephaly, syndactyly, and genitourinary abnormalities. A 2-year-old girl had unilateral partial cryptophthalmos associated with brachycephaly, unilateral syndactyly, and unilateral poor renal visualization.

Fifty-six patients with angioid streaks were evaluated ophthalmologically. Most had repeated fundus photography and fluorescein angiography during a follow-up period of 6 months to 7 years. The ophthalmoscopic variations and diagnostic difficulties which occurred were noted. In most instances, the angioid streaks were not initially recognized and the patient was referred with another diagnosis. In several cases, the peripapillary, macular, and peripheral changes seen with angioid streaks were found to simulate other better known fundus conditions, resulting in the erroneous diagnosis and improper treatment. In some cases, the angioid streaks were so subtle that they were overlooked and in others they were observed, but initially interpreted as something else. Because of the medical significance of angioid streaks, ophthalmologists should be aware of their variable features. These are discussed, with emphasis upon those subtleties which differentiate angioid streaks from other conditions which they may simulate. On the basis of these observations, an ophthalmoscopic differential diagnosis of angioid streaks is proposed.

Ferry reported that in a large series of eyes enucleated because of a visible lesion suspected preoperatively of being a melanoma, 19% were found histopathologically to contain a simulating lesion. The present study was undertaken to update Ferry's data. After the completion of Ferry's study, 5,889 intact eyes were received from October 1962 through December 1969. These were reviewed using Ferry's criteria for selection of cases. Simulating lesions were found responsible for 20% of enucleations for malignant melanoma. Many of the same diagnostic problems continue to plague the ophthalmologist, who often fails to utilize certain diagnostic techniques that are presently available to aid in differential diagnosis.

To the Editor. —With respect to the letter by Dr. Ruiz concerning our article, we do not entirely agree with the first point he made, that no one can look at a fundus lesion and say with certainty that it is or is not malignant. Most malignant melanomas, when first seen by the ophthalmologist, have a rather typical appearance to indirect ophthalmoscopy and should offer little diagnostic problem. In such cases, we think that the diagnosis can be made with virtual certainty on the basis of indirect ophthalmoscopy alone. We agree, however, that in the case of small, relatively flat lesions, the diagnosis may be difficult to impossible. The Retina Service at Wills Eye Hospital has performed about 100 32 P studies during the last 18 months and we share the enthusiasm for 32 P testing in such cases. However, we do not consider it to be the final answer

• Gross examination of an eye removed at autopsy from a 4-year-old child with congenital heart disease revealed typical grouped pigmentation of the retina. Routine light microscopy and flat preparation of the retinal pigment epithelium demonstrated the lesions to consist of focal areas of increased concentration of pigment granules in otherwise normal retinal pigment epithelial cells. The pigment granules were large and football shaped. The overlying photoreceptors showed no abnormalities, possibly explaining the clinical features of normal visual acuity and visual fields in this patient. We believe that this is the first histologic description of congenital grouped pigmentation reported in the English literature. A differential diagnosis and brief review of the pertinent literature are also presented.

Plasma carcinoembryonic antigen (CEA) levels were found to be elevated in a 62-year-old woman who came to us with a diffuse choroidal mass in the left eye. Although a metastatic tumor was suspected clinically, a thorough medical evaluation failed to detect a primary lesion and the eye was enucleated. The histologic diagnosis was metastatic adenocarcinoma. On immunohistologic assay, the choroidal metastases stained positively for CEA. We believe this to be the first CEA-positive intraocular tumor to be reported.

To the Editor. —In response to the letter of Drs. Jarrett and Hagler concerning our article, their point regarding the use of32P in the diagnosis of uveal melanomas is well taken. Using the method that they have popularized, the Retina Service at Wills Eye Hospital has performed about 100 similar studies during the last 18 months. Our results are likewise quite encouraging. With respect to the case that Dr. Font and I published, it is unfortunate that32P studies were not available at that time to the physician who submitted the case to the Armed Forces Institute of Pathology. The globe was enucleated in 1970, prior to the article of Drs. Hagler and Jarrett, at a time when the revival of32P in the diagnosis of uveal melanomas had not been widely publicized. The referring physician did use all of the diagnostic modalities available to him