[Three adult siblings of Gaucher's disease with corneal opacities, deafness, valvular heart disease, deformed toes, communicating hydrocephalus and leptomeningeal thickening].
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Lumican, a prototypic leucine-rich proteoglycan with keratan sulfate side chains, is a major component of the cornea, dermal, and muscle connective tissues. Mice homozygous for a null mutation in lumican display skin laxity and fragility resembling certain types of Ehlers-Danlos syndrome. In addition, the mutant mice develop bilateral corneal opacification. The underlying connective tissue defect in the homozygous mutants is deregulated growth of collagen fibrils with a significant proportion of abnormally thick collagen fibrils in the skin and cornea as indicated by transmission electron microscopy. A highly organized and regularly spaced collagen fibril matrix typical of the normal cornea is also missing in these mutant mice. This study establishes a crucial role for lumican in the regulation of collagen assembly into fibrils in various connective tissues. Most importantly, these results provide a definitive link between a necessity for lumican in the development of a highly organized collagenous matrix and corneal transparency.
Naturally occurring, oval opacities at the junction of the middle and inferior thirds of the cornea were found in an experimental beagle dog colony and were examined by light and electron microscopy. Abnormalities were limited to the anterior stroma and consisted of extracellular rhomboid crystalline spaces. Spherical or elliptical vacuolar spaces, sometimes containing electron-dense amorphous debris, distorted stromal lamellae. Stromal keratocytes in affected areas revealed a range of changes from hyperplasia of organelles to degeneration and necrosis.
Resistance to the action of blinding brightnesses has been studied with the help of a quantitative photo-stress test in 6 patients (10 eyes) subjected to anterior radial keratotomy 6 month-2 years before and in 40 healthy persons (59 eyes). All patients after anterior radial keratotomy showed statistically significant longer time for restoration of visual acuity after bright light's application as compared with norm. Therefore, it is recommended, besides obligatory examination of persons after anterior radial keratotomy, when selecting persons for occupations connected with the action of bright light's application, to use additionally a photo-stress test, and if the time for restoration of visual acuity is longer as compared with norm, to consider them unsuitable for the occupation.
A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hypercholesterinemia with concommitant arcus cornealis and biliary concrements. Renal lithiasis caused by calcio-oxalate was additionally present. Endocrinological screening revealed growth hormone deficiency in the 1.55 m tall man-(secondary) osteoporosis was observed. The clinical symptomatology indicates that this case cannot be considered as a subtype of the inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity.
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