Oculocutaneous manifestations in xeroderma pigmentosa.

Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiarity (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), and carcinoma of the tongue (20%). Among the ocular features, 50% of patients presented with photophobia. Lid freckles or atrophic skin lesions were seen in all patients. Lower lid tumours were seen in 30%, chronic conjunctival congestion in 40%, corneal opacification in 40%, squamous cell carcinoma of limbus in 20%, bilateral pterygium in 40%, and visual impairment in 50%. The clinical features (ocular and cutaneous) of the cases are discussed.     

The corneal endothelium in xeroderma pigmentosum

The corneal endothelia of 8 xeroderma pigmentosum patients were evaluated by means of a specular microscope. All cases but 1 showed decreased cell density and all cases of this series showed an increased coefficient of variation in cell area, compared to that of normal persons. The regression analysis between the cell density and age revealed a close affinity to that of the normal aging process when the ultraviolet-survival lethal dose of each patient was taken into consideration. The loss of corneal endothelial cells in the xeroderma pigmentosum patients may be caused at an extraordinary high rate, in proportion to their clonogenic ultraviolet-survival rate.     

Management of corneal complications in xeroderma pigmentosum.

Xeroderma pigmentosum is an uncommon, recessively inherited disorder characterized by hypersensitivity to ultraviolet (UV) radiation, with defective repair of DNA damage caused by short-wavelength radiation. Patients with this disease experience progressive and precancerous changes in sun-exposed areas of the skin and mucous membranes. Some patients develop progressive neurologic degeneration. Eye involvement includes lid, conjunctiva, and corneal disorders. We report clinical, histopathologic findings, and complex management strategies used for a 33-year-old woman with xeroderma pigmentosum and recurrent corneal ulcerations that required corneal transplantation, topical cyclosporin, perilimbic conjunctival resection followed by topical mitomycin C, and corneal dye-laser photocoagulation of neovascularization in the left eye.     

Superficial involvement in lattice corneal dystrophy

Twenty-one corneas with lattice dystrophy were studied histologically to evaluate the magnitude of superficial lesions. The compromise included epithelium disarray and atrophy, degenerative pannus, disruption and absence of Bowman's layers, amyloid deposits, and elastotic deposits. These changes were progressive according to patients' age at time of keratoplasty. Oxytalan fibers, an elastic component, were found in affected corneas. The relation of these fibers to elastotic deposition and abnormal fibrillogenesis in lattice corneal dystrophy is discussed.     

Maxillary zoster with corneal involvement

A case, of maxillary zoster with corneal involvement in a young patient is described. Corneal involvement in maxillary zoster (Medline search) is rare.     

Hidrotic ectodermal dysplasia with corneal involvement

BACKGROUND: Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms. METHODS: We describe a father and son with hidrotic ectodermal dysplasia. RESULTS: Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities. CONCLUSIONS: A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described.     

Crystalline chorioretinopathy with marginal corneal involvement

The authors describe central and peripapillary chorioretinal dystrophies seen in 3 patients. In 2 of them a crystalline chorioretinal dystrophy was found. This is compared to the "simple" chorioretinal dystrophy of the third patient. Crystalline deposits in the limbus corneae were found in both patients with crystalline chorioretinopathy. Higher serum cholesterol levels and more widespread chorioretinal dystrophy are associated with greater corneal involvement. Visual acuity, central scotomata and the changes in the electroretinograms correlate with the chorioretinal dystrophy. The crystalline chorioretinopathy found in these patients is associated with Fredriksen's phenotype II, whereas the "simple" form of chorioretinal dystrophy is associated with multiple lipoprotein-type hyperlipidemia.     

Surgical induction of corneal astigmatism

Summary The aim of all ocular surgery is to preserve or restore optimal visual function. Reduction of excessive postoperative astigmatism after keratoplasty, cataract extraction, or other anterior segment operations has been obtained in clinical surgery by corneal wedge resection. The purpose of this experimental investigation was to quantify and evaluate the results of different microsurgical techniques in crescentic resection of a corneal wedge. Twenty-five rabbits were operated and the induced changes of corneal curvature measured by keratometry. The immediate and long-term results are presented. The effect of wedge resection was a steepening of the meridian perpendicular to the resection and a flattening of the meridian parallel to the resection. The astigmatism induced was less pronounced than the changes obtained in human surgery. There were no postoperative ocular complications and all corneas remained clear. It is suggested that the operation be performed in all cases of severe corneal astigmatism uncorrected by lenses.     

Surgical correction of corneal astigmatism after corneal graft]

We performed Troutman's technique of corneal wedge resection in 6 patients who had substantial astigmatism after penetrating corneal grafts. The astigmatism was reduced by 5 to over 15 dioptres, and was stable for up to 36 months. The visual acuity was considerably improved in 5 of the 6 cases. However we could not neither predict the amount of correction nor the axis of the residual astigmatism with this technique. We stress the importance of using a keratometer when performing a penetrating corneal graft.     

视网膜色素变性患者手术治疗45名

目的:评估视网膜色素变性患者的手术疗效。方法:对45名视网膜色素变性患者90眼进行手术治疗,术前和术后分别对这些患者进行了视锐度、自动视野计和三种视觉电生理指标(F-ERG、EOG和P-VEP)的检测。结果:术后3～22月,患者的视锐度得到了明显的改善,视野显著扩大,视野缺损减低。术前在90眼中有73眼(81.1%)的暗视F-ERG为熄灭型,在术后3～22月期间进行复查时,有些曾消失的F-ERG波复现,暗视F-ERG为熄灭型的眼下降至66(73.3%)只(P <0.05, t检验),一些原来残存的F-ERG波的波幅增加,峰潜伏期也缩短。EOG曲线变得更为弯曲,某些EOG的参数(如Arden比和G比值)也明显的增加(P <0.05, t检验)。用棋盘格翻转刺激中央6о视野时能够记录到P-VEP的患者数目,在45例中由术前的22例在术后增加到31例。这45例的残存P100波的平均振幅由术前的1.007μV增加到术后的2.236μV,有显著的统计学差异(P<0.005, t检验)。结论:手术治疗RP是有效和安全的,并能改善患者的视觉和阻止RP病程的发展。     

Surgical treatment of large corneal dermoid

Corneal and limbal dermoids are uncommon choristomatous corneal tumors. They clinically present as round or oval, whitish or yellowish cones protruding on the anterior surface of the eyeball. They are composed of ectodermal (keratinized epithelium, hairs, sebaceous and sudoriferous glands, nerves, smooth muscles and, less frequently, teeth) and mesodermal elements (fibrous tissue, fat, blood vessels and cartilage) combined in different proportion. If fat dominates in histology of the tumor, it is called a lipodermoid. A case of a two-year old boy with a large corneal dermoid on the right eye is presented. Dermoid covered almost the whole cornea and was associated with adherence of the atrophic iris to the posterior corneal surface and partial congenital cataract. Surgical therapy included excision of dermoid together with the superficial lamellae of the corneal stroma and penetrating keratoplasty. Satisfactory tectonic and esthetic outcome was achieved and has been maintained for four postoperative years now.