North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease.

The autosomal-dominant macular dystrophies known as North Carolina macular dystrophy and central areolar pigment epithelial dystrophy were originally described as distinct disease entities in three separate families. However, these disorders have several phenotypic features in common. The single large family with North Carolina macular dystrophy, which descended from three Irish brothers in 1790, has undergone extensive genealogic studies expanding the kindred to more than 2000 family members. As a result, two previously described families with central areolar pigment epithelial dystrophy have been found to descend from these same three Irish brothers with North Carolina macular dystrophy and, therefore, also have North Carolina macular dystrophy. This helps simplify the nosology of the disease and expands the phenotype of North Carolina macular dystrophy to include choroidal neovascular membranes.

Visual function after pan-retinal photocoagulation: a survey.

Thirty-five diabetic patients who had undergone pan-retinal photocoagulation were surveyed to determine the frequency and severity of visual difficulties they experience. Among the most frequent problems were difficulty adjusting to dim lighting, difficulty adjusting to bright lighting, and trouble in sorting dark colors. Judging distances, negotiating stairways, and avoiding obstacles were identified as having become more difficult since the laser treatment. According to a correlation analysis, the difficulties encountered in some important tasks, such as driving in the daytime, were highly related to visual acuity. However, many of the problems reported most frequently, and many of the problems whose frequency had increased the most since the laser therapy, were not related to acuity. Despite their many visual complaints, the patients expressed very positive attitudes toward the photocoagulation treatment.

Ophthalmologic findings in acquired immune deficiency syndrome (AIDS).

Forty-one homosexually active men had ophthalmologic and immunologic evaluations. Four of eight with acquired immune deficiency syndrome (AIDS) had abnormal ocular findings that included cotton-wool spots, retinal hemorrhages, cytomegalovirus, retinitis and conjunctivitis due to cytomegalovirus, and keratoconjunctivitis sicca. The other four patients with AIDS and 33 homosexual male controls had normal ocular examinations. Patients with AIDS and abnormal eye findings had a notably lower total leukocyte count, absolute lymphocyte count, percentage T-helper lymphocytes, helper-suppressor lymphocyte ratio, hematocrit level, and platelet count than patients with AIDS and normal results on eye examination or controls. All patients with AIDS and abnormal eye examination results died; the four other patients with AIDS and normal eye findings remain alive. These observations suggest that ophthalmologic abnormalities are common in patients with AIDS, are associated with severe immunoregulatory abnormalities, and carry a poor prognosis.

Studies of retinopathy and the plasma co-factor of platelet hyperaggregation in type 1 (insulin-dependent) diabetic children.

Only one out of 73 children with young-onset Type 1 (insulin-dependent) diabetes for less than 10 years had retinopathy detectable with fluorescein retinal angiography. Although these fluorescent studies were normal, retinal abnormalities were detected in 19 out of 53 patients by electro-retinography and in four out of 28 patients by the 100-hue colour test. We were unable to confirm recent reports indicating that most Type 1 diabetic patients have retinopathy detectable by fluorescein angiography. The diabetic plasma co-factor induces normal platelets to hyperaggregate in vitro. Plasma co-factor activities in adult diabetic patients have previously been shown to correlate with the degree of hyperaggregation, although in general, only those patients with severe retinopathy or nephropathy have high plasma activities. The plasma activities of 192 Type 1 diabetic patients were significantly higher than those of normal subjects (p less than 0.01). Of ten children with markedly elevated activities, nine did not have retinopathy.

Partial purification and studies of the plasma co-factor that potentiates platelet aggregation in diabetes mellitus.

A co-factor is present in the plasma of some diabetics that potentiates the degree of in vitro aggregation of normal platelets after ADP stimulus. This paper presents important changes in the analysis technique that utilize recently appreciated knowledge about platelet aggregation and that were needed to permit characterization of the co-factor. By this new technique, the plasma co-factor activity of 33 normal adults and 43 normal children was significantly lower (p less than 0.001) than that of the corresponding diabetic groups. Thirty-two percent of the adult and 23% of the child diabetics had an elevated plasma co-factor activity. None of the 71 diabetic children and only 12 of the 65 diabetic adults had severe retinopathy. These results correlate well with previous reports wherein the plasma co-factor activity was highest in patients who had severe retinopathy or nephropathy and was usually normal when microangiopathy was not evident. The co-factor was completely precipitated from the plasma of a diabetic with ammonium sulfate at the concentration of 34% of saturation. An aqueous solution of this precipitate retained co-factor activity during incubation at 56 degrees for 30 min but lost activity at neutral pH conditions. Co-factor activity eluted during gel filtration to indicate an estimated molecular weight of 21,000 daltons. The improved technique reported here should facilitate study of the platelet hyperaggregation co-factor and the pathophysiology of diabetic microangiopathy.

Scleral buckling without thermal adhesion.

One hundred seventy-five consecutive and unselected patients with retinal detachment were treated with a scleral buckling procedure without inducing a thermal adhesion. In 143 (82%) of these patients reattachment was successful after one operation. In 32 patients (18%) reattachment was not initially successful. These failures resulted from buckle malposition, periretinal proliferation, new or missed breaks, and the inability to close giant tears. Fifteen of the 32 reattached after subsequent scleral buckling without thermal adhesion. Final success was achieved, therefore, in 158 (90%) of the original group of 175 cases. We concluded that a chorioretinal scar might have prevented initial failure only in those cases of buckle malposition. The high incidence (17, [10%]) of periretinal proliferation, accounting for all of our final failures, did not concur with or support previous impressions indicating a causal relationship between thermal treatment and proliferative complications.

Choroidal vascular changes in toxemia of pregnancy.

Twenty-seven patients with toxemia of pregnancy were examined during a postpartum period of two days to eight months. Five of these manifested abnormal photographic and angiographic findings including disk and retinal edema, retinal striae, deep retinal yellow-white focal lesions, choroidal nonfilling, leakage of dye from the optic disk and deep retinal lesions, and retinal pigment epithelial window defects. The location and configuration of the leakage correlated with the defects seen on color photography. The normal retinal, and predominantly abnormal choroidal vascular patterns provide evidence implicating choroidal vascular insufficiency as the primary basis for secondary retinal detachments seen in toxemia of pregnancy.

Malignant melanoma of choroid in a case of nevus of Ota.

A white woman with unilateral nevus of Ota presented with visual loss and an intraocular mass resembling a choroidal melanoma. Indirect ophthalmoscopy, fluorescein angiography, ultrasonography, and radioactive phosphorus uptake corroborated the clinical impression and surgery was advised. Following enucleation, the specimen was examined with light microscopy, which revealed a mixed cell type malignant melanoma of the choroid. Electron microscopy disclosed the presence of premelanosomes in the episclera, indicating that the episcleral pigmentation is a result of melanocytic evolution. This paper represents the tenth report in the literature of choroidal melanoma occurring in a patient with nevus of Ota, and the first electron-microscopic study of an eye with this association of lesions.

Anterior segment fluorescein angiography with a retinal fundus camera.

We use a technique for anterior segment fluorescein angiography that employs an unmodified retinal fundus camera. Examples of conjunctival, corneal, iris, anterior chamber angle, and posterior chamber fluorescein angiograms are illustrated. The advantages of this method include rapid-sequence exposures, high resolution and contrast for small vessel detail, time/frame recordings, and the dual capability of retinal and anterior segment fluorangiography with use of the same camera.

Cystoid macular edema in retinitis pigmentosa.

Cystoid macular edema was commonly observed in retinitis pigmentosa and documented, fluorangiographically, in 70% (41) of 58 consecutive patients. Macular fluorescence representing the intraretinal accumulation of dye from leaking perifoveal capillaries was best seen by simultaneous projection of early- and late-phase angiograms. This facilitated visualization of dim cystoid staining amid mottled and sometimes confusing hyperfluorescence in the posterior pole. Patients of many different ages demonstrated cystoid macular edema and there was no predominant involvement of any particular age group. Although visual acuity was affected in the majority of patients with cystoid macular edema, 25% had 20/25 or better due, perhaps, to sparing of the fovea. Bone corpuscular pigmentation appeared frequently with cystoid macular edema and we were, therefore, unable to corroborate previous opinions that depicted cystoid macular edema as part of a presumed atypical nonpigmented form of retinitis pigmentosa.

Intravitreal amphotericin B treatment of Candida endophthamitis.

A 43-year-old heroin addict with Candida albicans endophthalmitis was treated with a single 5-mug intravitreal injection of amphotericin B. The diagnosis was confirmed by smears and cultures of a vitrous aspiration. The patient's accidental death seven weeks after treatment enabled us to obtain histopathologic evidence that the infection had been cured and that the amphotericin B had had no toxic effect on the retina. Intravitral amphotericin B should be considered an important mode of treatment of Candida endophthalmitis.

Central areolar pigment epithelial dystrophy.

We examined nine members of a family with a unique hereditary macular dystrophy by using stereoscopic color photography, fluorescein angiography, electroretinography, electro-oculography, dark adaptation, H-R-R color plates, and the Farnsworth-Munsell 100-hue test. The disorder was transmitted as an autosomal-dominant trait with increased penetrance and variable expression. Four of the family members, representing three successive generations, exhibited defects in macular pigmentation ranging from a 1-disk diameter excavation to a more subtle central loss of macular pigment. Only one eye with macular hemorrhage had decreased visual acuity; visual acuity in this eye was 20/25 when the hemorrhage resolved. All other retinal function studies were normal. The unusual nonprogressive areolar depigmentation of the central macula together with normal retinal functions made it impossible to classify this disorder, and indicated a new and unreported dominant macular dystrophy, central areolar pigment epithelial dystrophy.

Eye disorders. Retinopathy. What to expect in the diabetic patient.

Two forms of diabetic retinopathy are recognized clinically--nonproliferative and proliferative. Nonproliferative diabetic retinopathy is characterized by microaneurysms, hemorrhages, hard exudates, retinal edema, cotton-wool spots, and intraretinal microvascular abnormalities. The general outlook is optimistic, and most people with nonproliferative diabetic retinopathy will maintain useful vision for a long time. Proliferative diabetic retinopathy is characterized by formation of neovascular tissue on the surface of the retina or optic disk. Aspirin, photocoagulation, or vitrectomy may be used in treatment, depending on the type of retinopathy and its stage of progression.

Central areolar pigment epithelial (cape) dystrophy.

A family with a unique hereditary macular dystrophy is presented. The disorder is transmitted as an autosomal dominant trait having high penetrance and variable expression. The characteristics of this dystrophy are: childhood onset; nonprogressive areolar depigmentation of the central macula; and with the exception of one eye with a macular hemorrhage, normal vision acuity and retinal-function studies.