Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod type of congenital amaurosis. This was associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older cousin). The mode of inheritance appears to be autosomal recessive.

Leukemic retinopathy. Relationship between fundus lesions and hematologic parameters at diagnosis.

The authors examined 117 consecutive patients with acute leukemia within a few days of diagnosis. Sixty-six patients had acute nonlymphocytic leukemia, and 51 had acute lymphocytic leukemia. Forty-two percent of the patients had abnormal ocular findings related to leukemia. The authors found an association between the presence of intraretinal hemorrhages and thrombocytopenia for all patients. In addition, patients with acute lymphocytic leukemia and intraretinal hemorrhages had lower hematocrit levels than did those without such hemorrhage. The presence of anemia was related to the findings of white-centered hemorrhages in patients with acute nonlymphocytic leukemia. The presence of cotton-wool spots was not associated with hematologic parameters. Intraretinal hemorrhages, white-centered hemorrhages, and cotton-wool spots were all found more frequently in adults than in children.

Classification of hypertensive fundus changes and their order of appearance.

We studied the sequence of appearance of the various fundus lesions in experimentally produced renovascular malignant arterial hypertension in 60 rhesus monkeys. The earliest lesion to appear usually was focal intraretinal periarteriolar transudates (FIPTs). Some time after that, three lesions: acute focal retinal pigment epithelial lesions, macular edema and optic disk edema, developed at roughly the same time. Cotton-wool spots appeared after these lesions. Retinal lipid deposits developed relatively late. Retinal arteriolar changes were a much later phenomenon. Conspicuous retinal hemorrhages were not a common or prominent early sign. The various classifications of hypertensive fundus changes proposed in the literature are reviewed and discussed critically, and it is concluded that, instead of using the various arbitrary grades advocated in different classifications, it is more informative and clinically useful to give a descriptive account of the individual fundus lesions revealed by ophthalmoscopy and fluorescein fundus angiography; because different lesions have different degrees of significance.

Fundus changes associated with Behçet's disease.

Between 1973 and 1987 we recorded 300 cases of Behçet's disease with fundus changes. Our routine preview of each case included examination with the Goldman three-mirror contact lens, ophthalmoscopy, referral for laboratory tests, color fundus photography and, most importantly, fluorescein angiography. The ophthalmological findings led to the proper diagnosis in 254 (85%) of our cases. Fluorescein angiography revealed incipient fundus changes in 38 eyes of 19 medically diagnosed patients with no visual complaints and normal fundi on ophthalmoscopy. Eighty-six percent of our cases had or developed diverse fundus changes bilaterally. The fundus changes we encountered most frequently were hyperemia of the optic disc, macula edema, retinal edema, vascular sheathing, retinal exudate, and retinal hemorrhage. With the exception of eyes with very poor prognoses, only 184 of the 403 eyes that were followed up for 3-120 months (median 12) experienced new insults in the posterior segment; 40 of these became totally blind while 59 maintained their visual status. Early diagnosis is necessary for proper treatment patients with Behçet's disease. Fluorescein angiography is required for early diagnosis and for monitoring the posterior segment involvement closely. This is the most characteristic and often the most serious consequence of Behçet's disease; it may also the first indicator of the disease.

Computer-aided area measurement of ocular images.

Using a combination of computer-aided measurement techniques and fundus camera images, the area of regions of interest on the fundus can be measured. If these area measurements are corrected for the magnification effects of the patient's visual system, and the fundus camera optics, an estimate of the true anatomical size of the measured object can be determined in physical units. While the results of measuring models indicate a maximum error of 6% for the system, the results of clinical trials demonstrate an average error of 10% for well-defined areas of interest, with increasing error of up to 30% for poorly defined areas of interest.

Retinal detachment. A study of a population-based patient material in Sweden 1971-1981. II. Pre-operative findings.

In a population-based material of patients with retinal detachment (RD), the pre-operative findings in different subgroups were studied. In traumatic cases flap tears and round holes were found in at least as high a frequency as oral dialysis, or even higher. In aphakic cases subtotal or total RD was often observed on admission for surgery. A high proportion of aphakic eyes without lattice degeneration exhibited no breaks. RD in myopic eyes was usually large, and round holes were frequently found. Full-thickness fixed retinal folds were more seldom seen pre-operatively en myopic than in non-myopic eyes. Lattice degeneration was usually observed in myopic RD patients of ages less than 30 years, but mainly in hyperopic or emmetropic eyes in patients over 60. In RD with lattice, multiple breaks were frequently found. A comparatively large group of RD cases without lattice were non-traumatic, phakic and non-myopic (40%). Most of these patients were 60 years and older. Flap tears were often seen, and the detachment was seldom large in this group.

Choroideremia in a genotypically normal female. A case report.

A 10-year-old girl demonstrated advanced choroideremia. She had decreased visual acuity, high myopia, and characteristic fundus findings of choroideremia. Her ERG, dark adaptation, visual fields, and fluorescein angiogram were all abnormal; the results were consistent with choroideremia. Her chromosome studies revealed that she was a genotypically normal female. Her parents were examined ophthalmologically and found to be normal.

Tay-Sachs disease with conspicuous cranial computerized tomographic appearances.

An autopsy case of a 3-year-old female infant with Tay-Sachs disease was presented. A cherry red spot in the fundus and a deficiency of N-acetyl-beta-hexosaminidase A in the white blood cells were revealed soon after admission at the age of one year. Her parents and sister were found to be healthy carriers. The patient showed a typical clinical course with marked cranial swelling. In addition to the marked ballooning of neurons on light microscope, membranous cytoplasmic body (MCB) on electron microscope and abnormal accumulation of GM2 ganglioside in the cerebral cortex by thin layer chromatography were confirmed in the autopsy specimens. In the late stage of her clinical course, the cranial computerized tomography (CT) demonstrated symmetric and deep-wavy hyperdense cerebral cortical zones, diffuse hypodensity and diminished volume of cerebral white matter, mild to moderate ventricular dilatation, and a small cerebellum and brainstem. These conspicuous appearances of the cranial CT seem to be characteristic of Tay-Sachs disease in the late stage, and they are derived from abnormal accumulation of GM2 ganglioside in the cerebral cortex, and diffuse intense demyelination (dysmyelinating demyelination) of the cerebral white matter.

Conference on insulin pump therapy in diabetes. Multicenter study effect on microvascular disease. Studies of retinopathy. Methodology for assessment and classification with fundus photographs.

A major goal of the study was to assess the methodologies available for the quantification of retinal lesions suitable for application in trials of metabolic management. We describe the methods used for grading stereoscopic color fundus photographs. Overall retinopathy severity level for each eye ranging from normal (level 10) to high-risk category (level 70) was assigned on the basis of gradings of individual lesions. Change in retinopathy severity level over the 8-mo period was detected in 3-62% of patients, depending on the method used and the definition of change. Lesions responsible for change in level were mainly retinal infarcts (soft exudates) and intraretinal microvascular abnormalities.

Autosomal dominant retinitis pigmentosa. A method of classification.

Four types of autosomal dominant retinitis pigmentosa (RP) were discernible in 84 patients by clinical, electrophysiologic, and psychophysical criteria. Type 1 patients showed diffuse fundus pigmentary changes and nondetectable electroretinographic (ERG) cone and rod functions. Both type 2 and type 3 patients showed fundus pigmentary changes more apparent within the inferior retina. Type 2 patients showed marked loss in rod ERG function, with prolonged cone implicit times, whereas type 3 patients showed substantial rod function and normal cone implicit times. Type 4 patients had a funduscopically and functionally "delimited" disease, with substantial cone and rod ERG amplitudes and normal implicit times. The classification of dominantly inherited RP is important for studies of natural history in disease progression, for patient counseling, and for various laboratory investigations of patients with RP in which patient homogeneity should be maximized.

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.

Intoxication with beta, beta' -iminodipropionitrile: a model of optic disc swelling.

Human and experimental pathologic studies have suggested that optic disc swelling is due to enlargement of axons in the optic nerve head. Beta, beta' -Iminodipropionitrile (IDPN), a toxin known to produce neurofibrillary swellings in proximal portions of motor and sensory axons, was used to induce axonal lesions in the visual system of guinea pigs and dogs. Funduscopic examination showed progressive optic disc swelling. The axonal swellings, containing maloriented skeins of neurofilaments, appeared initially in the lateral portions of the optic disc; eventually, the majority of axons in the optic disc and in the retinal nerve fiber layer were enlarged. The swellings developed proximal to the level of Bruch's membrane. In addition, myelinated axons in the optic disc and retinal nerve fiber layer developed swellings proximal to the first heminode, demarcating the junction between the unmyelinated/myelinated segments. The retinal ganglion cells remained normal, and there was little axonal degeneration in the distal optic nerve. When beta, beta' -iminodipropionitrile was discontinued, the axonal swellings gradually disappeared.