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Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.
Fish eye disease (FED) is an extremely rare familial disorder characterized by severe HDL deficiency and extensive corneal opacities. This disorder appears to be a variant of familial lecithin: cholesterol acyltransferase (LCAT) deficiency in which the enzyme remains partly active yet the ability of the enzyme to esterify cholesterol in high-density lipoprotein (HDL) has been lost. The rarity of this disorder has limited advances in our understanding of the pathophysiology of the HDL deficiency. However, we here describe the clinical and biochemical presentation of a family with FED who are of Dutch descent. The proposition presented with HDL deficiency and corneal opacity. Subsequently, they were diagnosed as having FED by the absence of LCAT activity against a small proteoliposome substrate despite the presence of half-normal LCAT mass and a near-normal ratio of unesterified to total cholesterol in plasma. Heterozygotes presented with half-normal LCAT activity, but not with decreased HDL. With the identification of this three-generation family, renewed investigation of this intriguing disorder of HDL is now possible.
Specular microscopy provides a level of magnification and differentiation of detail which approaches that of a histological examination, and has the advantage of being a noninvasive procedure. This makes specular microscopy useful not only in examining the corneal endothelium, but also in identifying deep corneal opacities, which fall into two broad groups: 1) exogenous materials deposited in the cornea; and 2) endogenous pathologic corneal changes. Exogenous materials in the cornea have a wide variety of appearances, including the typical appearance of caterpillar hairs, the multifaceted appearance of glass foreign bodies, the regular geometric appearance of cholesterol crystals and cigar-shaped myeloma crystals or the more irregular deposits of chlorpromazine. Endogenous changes include ghost vessels, larger striate corneal nerves, fasciculi of fine parallel lines in keratoconus, criss-cross irregularly running lines in resolved keratitis, and a shagreen or cellophane-like appearance suggesting thickening of Descemet's membrane. While some deep corneal opacities are easily diagnosed clinically, the nature of others may be difficult to determine and specular microscopy is a valuable aid in such cases.
A man and his three daughters had massive corneal opacities called in their home village "fish-eye disease" because of the resemblance of the eyes to those of boiled fish. The two living daughters had the same dyslipoproteinaemia, characterised by normal serum cholesterol but raised serum triglycerides, raised very-low-density lipoproteins, strikingly high levels of low-density lipoprotein (LDL) triglycerides. LDL contained normal sized as well as abnormally large particles and a 90% reduction in the level of high-density lipoprotein (HDL) cholesterol. Lecithin:cholesterol acyltransferase (LCAT) activity and the percentage of plasma cholesterol esters were normal, with excluded LCAT-deficiency. Normal electrophoretic mobility of HDL as well as other lipoprotein findings excluded Tangier disease. The clinical and laboratory abnormalities in fish-eye disease are atherosclerosis at old age, visual impairment, and dense corneal opacification. Fish-eye disease thus differs both clinically and in its lipoprotein abnormalities from LCAT-deficiency and Tangier disease.
We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic of type 3 were noted from early childhood, although the major signs were undeveloped until early adult life. Autopsy disclosed thickened leptomeninges with perivascular fibrosis, non-rheumatic calcified aortic and mitral stenosis with marked fibrosis, and mild infiltration of Gaucher cells in the reticuloendothelial organs. In contrast to the slight accumulation of glc-cer in the liver and spleen, the activity of glc-cer-beta-glucosidase was markedly decreased in the tissues, as much as in a patient with type 2 Gaucher disease. Common mutations were not found in the glucocerebrosidase gene.
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Deficiency of lecithin:cholesterol acyltransferase, LCAT disease, is one of the dyslipoproteinemias with characteristic lipid deposits in the cornea. The present report documents the clinicopathologic abnormalities of one case in which a full-thickness corneal specimen was obtained at the time of corneal transplantation. The characteristic clinical abnormality was a progressive corneal opacification with a peripheral arcus that extended into the sclera. The pathologic abnormality consisted of vacuoles prevalent in the anterior corneal stroma by light microscopy and containing extracellular, membranous deposits by electron microscopy. These observations confirm and supplement the previous six pathologic reports of corneal changes in LCAT disease and demonstrate, for the first time, histopathologic evidence of unesterified cholesterol in the corneal stroma of LCAT disease.
Bilaterally symmetric opacities were detected in the corneal stroma of 78 (14%) of 560 Siberian Huskies, aged 7 months to 12 years, examined in ophthalmology screening clinics. The opacities were round or horizontally oval and consisted of a diffuse gray homogeneous haze in the anterior stroma or an array of fine polychromatic crystals in the posterior stroma, or both. The corneas were not inflamed. The frequency of occurrence and density of the opacities increased with age. Several affected dogs were closely related, but a specific inheritance pattern could not be established. Light and electron microscopy disclosed clusters of extracellular, thin, needle-shaped, crystalline clefts. Histochemical stains on frozen sections identified neutral fats, phospholipids, and cholesterol as components of the crystals.
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Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.
A marginal loss of corneal transparency or 'haze' is a phenomenon commonly experienced after photorefractive keratectomy using excimer lasers (193 nm). The putative causes of this phenomenon are the presence in the surgical site of (1) activated keratocytes, (2) vacuoles and (3) newly synthesized collagen. A CCD camera device was employed in order to measure the corneal transparency. Both scattered and reflected light in the slit image of patients' corneas was measured using polarizing filters and image analysis software. We observed an increase in reflected and scattered light until the second postoperative month, followed by a subsequent decline. However, the combined signal generated by reflected and scattered light showed a second increase at 4 months postoperatively, whereas the signal generated by scattered light alone stayed at lower levels. These objective measures of changes in corneal transparency were correlated with changes in visual performance using psychophysical tests measuring visual acuity at different contrast levels (100%, 20% and 5%). In all patients we observed a good correlation between the signal generated by scattered light alone and the reduction in the 5% contrast visual acuity performance. These disturbances in low contrast visual performance were only significant during the first 3-4 months postoperatively, and thereafter most patients returned to their preoperative value. Eighteen percent of our patients discontinued topical steroids postoperatively. No difference in corneal transparency was observed.
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Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.