Ocular findings in osteogenesis imperfecta congenita.

Osteogenesis imperfecta is a rare, inherited, connective-tissue disorder. The three main signs of this disease are multiple bone fractures, blue scleras, and deafness (osteosclerotic type). In our research, only a few reports of the morphologic studies of the eyes of patients with osteogenesis imperfecta were found. This report describes the ocular histopathologic condition of four cases of osteogenesis imperfecta congenita, with emphasis on the ultrastructural characteristics of the collagen in the cornea and sclera.

Scleropachynsis maculopathy.

To our knowledge, this is the first clinicopathologic report of a previously unrecognized maculopathy in which there is thickening and mucopolysaccharide deposition in the sclera subjacent to the macula. A healthy 50-year-old man had bilateral mottling of the retinal pigment epithelium (RPE) in the macular region. The left eye was enucleated because of a choroidal melanoma. Histopathologic examination disclosed a thickened sclera with abnormal collagen fibrils with diameters up to 5,800 A and compressed choroid. The overlying RPE had areas of hypopigmentation, hyperpigmentation, and hyperplasia and contained intracytoplasmic lipofuscin.

Epiretinal and vitreous membranes. Comparative study of 56 cases.

Five morphologically distinguishable cell types were observed in 56 epiretinal and vitreous membranes obtained surgically from eyes with various ocular diseases: (1) retinal pigment epithelial (RPE) cells that were evident only in association with retinal detachment, (2)(macrophages, (3) fibrocytes, (4) fibrous astrocytes that were characteristic of all disease groups, and (5) myofibroblast-like cells that had mostly the characteristics of fibrocytes and, occasionally, of RPE cells or fibrous astrocytes. The combination of cell types varied in different types of epiretinal membranes, but the formation of collagen and the development of cells with myofibroblast-like properties were common features and seemed to be within the capacity of several cell types. These two common features seem to be the basis for the contractile properties of epiretinal and vitreous membranes.

Diagnosing and treating Phthirus pubis palpebrarum.

Phthiriasis palpebrarum is an uncommon cause of blepharitis and conjunctivitis and may easily be overlooked. A high index of suspicion and careful examination of the patient's lid margins and eyelashes will lead to the proper diagnosis. Treatment is best accomplished by careful removal of the lice and nits (louse eggs) from the patient's lashes. Local application of a pediculocide such as yellow mercuric oxide N.F. 1% ophthalmic ointment applied twice daily for one week or 0.25% physostigmine (Eserine) ointment applied twice daily for a minimum of ten days, to the lid margins should be considered when the total removal of Phthirus pubis and nits is not possible mechanically. Body hair should be examined for infestation with lice and treated with gamma benzene hexachloride shampoo. This medication should be used with caution in infants, children and pregnant women. Family members, sexual contacts, and close companions should be examined and treated appropriately; clothing, linen and personal items should be disinfected with heat of 50 degrees C for 30 minutes.

Clinicopathologic correlation of lipidization and detachment of the retinal pigment epithelium.

A 49-year-old woman had a few small drusen-like lesions and one larger area of depigmentation in the right fundus. The pin-point lesions corresponded to single enlarged retinal pigment epithelial cells with lipid accumulation and the larger area represented a small, localized retinal pigment epithelial detachment (soft druse). Lipoidal degeneration of individual retinal pigment epithelial cells may be a mechanism of nodular drusen formation. The soft druse was associated with thickening of the basement membrane of the retinal pigment epithelium.

A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome).

The eyes of a 51-year-old woman with familial adenomatous polyposis and extracolonic manifestations (Gardner's syndrome) were obtained postmortem and studied by light microscopy and by transmission and scanning electron microscopy. We found a generalized abnormality in melanogenesis of the retinal pigment epithelium and at least three types of pigmented lesions. The histologic findings in one type of lesion were consistent with congenital hypertrophy of the retinal pigment epithelium or benign pigmented nevus of the retinal pigment epithelium. The other two types of lesion were most consistent with hamartomatous malformations of the retinal pigment epithelium featuring cellular hypertrophy, hyperplasia, and rarely retinal invasion and formation of a minute mushroom-shaped tumor. These histopathologic findings indicate a generalized effect of the familial adenomatous polyposis gene on the retinal pigment epithelium. This oncogene, which is responsible for tumor formation in the gastrointestinal tract, soft tissues, bone, and other locations in patients with familial adenomatous polyposis, also leads to a generalized defect in melanogenesis and focal lesions of the retinal pigment epithelium.

Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy.

The eyes of three infants with cerebrohepatorenal disease (Zellweger's syndrome) who died demonstrated ganglion cell loss, gliosis of the nerve fiber layer and optic nerve, optic atrophy, and changes resembling those of retinitis pigmentosa in the retina and pigment epithelium. Ultrastructural examination showed bileaflet inclusions identical to those seen in neonatal adrenoleukodystrophy in the pigment epithelium and in pigmented macrophages, but these were absent in the cornea. Biochemical analysis of tissues demonstrated an excessive amount of very-long-chain fatty acids in the ocular tissues, an abnormality also found in adrenoleukodystrophy. These histopathologic and biochemical results demonstrated that the cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy are similar in regard to ocular abnormalities and the presence of saturated very-long-chain fatty acids.

Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy.

Histopathologic studies of the eyes of one patient (a boy who died at 14 years of age) with childhood adrenoleukodystrophy and two patients (girls who died at 24 and 31 months of age) with neonatal adrenoleukodystrophy showed the accumulation of the characteristic bileaflet inclusions in optic nerve macrophages, retinal neurons, and macrophages and loss of ganglion cell and nerve fiber layer. Additionally, in the two cases of neonatal adrenoleukodystrophy, changes resembling early retinitis pigmentosa were found, with accumulation of characteristic inclusions in the retinal pigment epithelium and pigment-laden macrophages. One of the patients with neonatal adrenoleukodystrophy also had an anterior subcapsular cataract and cystoid macular edema.

Cytopreparatory techniques for eye fluid specimens obtained by vitrectomy.

Methods of processing ocular fluid specimens, mainly from vitreous surgery, are described. Cytopreparatory techniques using Millipore filtration and Papanicolaou staining for cytology, celloidin bags for cell blocks, air-dried and wet smears and electron microscopy are discussed regarding the details of the methods and their role in the pathologic diagnosis of eye disease. Methods of evaluating tissue scrapings from the cornea and conjunctiva are also reviewed.

Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms.

Diagnosis of the neuronal ceroid lipofuscinoses (NCLF), a group of recessively inherited neurolipidoses, must rely on clinical as well as light and electron microscopic histopathologic findings, as a precise biochemical defect has not yet been identified. We have studied the eyes from two patients with the late infantile and juvenile forms of the disease. On electron microscopy, we observed, almost exclusively, inclusions with curvilinear profiles in the late infantile type, while multimembranous and curvilinear bodies were seen in juvenile NCLF. In both forms of the disease, retinal destruction seems to start at the photoreceptor and outer retinal levels and progresses from the macular area to the periphery. Conjunctival biopsy is helpful in the diagnosis of these disorders, as demonstrated in the adult case presented here.

Proliferative vitreoretinopathy. Ultrastructural study of 20 retroretinal membranes removed by vitreous surgery.

The authors studied the transmission electron microscopy characteristics of retroretinal membranes surgically removed from 20 human eyes with proliferative vitreoretinopathy. Retinal pigment epithelium was the predominant cell type. Other cells included fibrocytes, macrophages, fibrous astrocytes, and myofibrocytes. Fibrin and collagen were also present. The cellular and extracellular constituents of these retroretinal membranes are similar to findings in previous reports of retroretinal membranes removed during vitreous surgery, as well as experimentally induced retroretinal membranes in animals.

Vitreous incarceration complicating cataract surgery. A light and electron microscopic study.

Vitreous incarceration in the cataract wound may contribute to development of aphakic cystoid macular edema, vitreoretinal traction and retinal detachment, and corneal decompensation. Thirty-one eyes in which vitreous was incarcerated in the cataract wound were examined postmortem and the corneal, anterior segment, and vitreoretinal changes were reported. Light and electron microscopy specimens demonstrated migration of corneal endothelium onto the adherent vitreous with production of basement membrane (descemetization). Fibrous ingrowth was present in 84% of the eyes. Iridovitreal synechiae were seen in 87% of the eyes. Cystoid macular edema, present in six eyes (19%), was usually accompanied by retinal phlebitis and often by distortion of the pars plicata. Vitreoretinal traction was seen in four eyes (13%), retinal tears were seen in two eyes (6%), and one eye had a total retinal detachment. Preretinal membranes were present in five eyes (16%) without other macular pathology. Persistent cystoid macular edema appears to occur in a minority of eyes with vitreous incarcerated in the cataract wound. If a vitrectomy is to be performed, the surgeon should excise vitreous adherent to the iris and in the anterior vitreous cavity in addition to the vitreous in the region of the wound.

Clinicopathologic studies of age-related macular degeneration with classic subfoveal choroidal neovascularization treated with photodynamic therapy.

BACKGROUND: Photodynamic therapy (PDT) is a relatively new modality that is currently under clinical and experimental evaluation for treatment of subfoveal choroidal neovascularization (CNV). The authors report the case of an 82-year-old woman who underwent verteporfin-mediated PDT for classic subfoveal CNV. Fluorescein angiography performed 2 weeks after treatment disclosed reduction of the initial area of neovascularization and leakage by approximately 60%. Three weeks after PDT, however, the area of leakage was almost the same size as that before treatment. The patient underwent submacular membranectomy almost 4 weeks after treatment. The authors describe the ultrastructural vascular changes after PDT and a clinicopathologic study of classic CNV. METHODS: The submacular membrane was studied by light and electron microscopy and immunohistochemical techniques. RESULTS: Ultrastructural examination of the peripheral vessels showed evidence of endothelial cell degeneration with platelet aggregation and thrombus formation. Occasional occluded vessels were surrounded by macrophages, a phenomenon previously reported to describe the process of resorption of such blood vessels. The vessels in the center of the membrane were unremarkable. CONCLUSION: Photodynamic therapy causes endothelial cell damage, thrombus formation, and vascular occlusion of classic CNV in age-related macular degeneration.

Fucosidosis: ultrastructural study of the eye in an adult.

The ocular histopathological and ultrastructural features of fucosidosis in a man who survived to the age of 25 years are reported. Virtually all of the cells of the eye contained cytoplasmic, membrane-bound, and confluent areas of fibrillogranular and multilaminated material. The most striking accumulations were present within the endothelial cells lining blood vessels and corneal endothelium, and the least amount was present in the uveal melanocytes.

Corneal endothelial overgrowth of angle and iris. Evidence of myoblastic differentiation in three cases.

Corneal endothelialization of the anterior chamber angle was observed in three cases of iris neovascularization and one case of post-contusion deformity. Scanning electron microscopy in two cases revealed a sheet composed of confluent fusiform cells forming a regular mosaic, growing in a tissue culture-like fashion, and extending over the anterior iris surface. Electron microscopy revealed an endothelial lining continuous with the corneal endothelium extending over the fibrovascular membrane which covered the anterior iris surface in the cases of iris neovascularization and partially extended over the trabecular meshwork in an eye with post-contusion deformity. These endothelial cells possess junctional complexes, apical villi, and prominent basement membrane. In addition, myoblastic differentiation with intracytoplasmic microfilaments, measuring 5 to 6 nm in diameter and often marginally located with fusiform densities, were observed. The presence of myoblastic features may play a role in the ability of corneal endothelial cells to migrate and participate in production of peripheral anterior synechia and ectropion of the iris.