Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features.

Incontinentia pigmenti (IP) (Bloch-Sulzberger syndrome) is an X-linked dominant condition usually fatal in males. Shortly after birth affected girls present with a rash followed by pigmentary changes. Abnormalities of the central nervous system and dentition are often present, and ophthalmic problems develop in approximately one-third of patients. The authors present the pathological findings in the skin and eye in a young woman who required enucleation as a result of long-standing retinal detachment and closed-angle glaucoma. A review of published ocular pathology reports indicates that retinal detachment and a fibrovascular retrolental membrane are the commonest intraocular abnormalities in IP. Changes in the retinal pigment epithelium are also prominent, although whether these are primary or secondary remains to be established.

Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2.

We present a case of partial duplication of the short arm of chromosome 2 (karyotype 46,XX, dup [2p21-2p25]) in a newborn girl. The infant was born at 41 weeks of gestation and died approximately 3 hours after birth. At autopsy the characteristic dysmorphic features (hypertelorism, high, prominent forehead, micrognathia and low-set, malformed ears) and numerous other congenital malformations were observed. Bilateral microcornea with opacities was noted. Histopathological examination of the eyes showed dysgenesis of Bowman's membrane, with glycosaminoglycan deposition and a series of structural anomalies that form part of the anterior segment mesenchymal dysgenesis (ASMD) complex. To our knowledge this is the first case of partial duplication of the short arm of chromosome 2 in which the ocular histopathological features have been studied. Our case provides a further example of the association of ASMD with a chromosomal abnormality.

Leiomyoma of the iris.

A 77-year-old white woman presented with a lightly pigmented iris lesion assumed clinically to be an iris melanoma. Light microscopy of the excised tumour showed it to be a spindle-cell tumour. Electron microscopy confirmed the diagnosis of leiomyoma of the iris.

Plasma cell granuloma of the lacrimal sac.

A 31-year-old man with a 2-year history of recurrent dacryocystitis underwent dacryocystorhinostomy. An unexpected operative finding was a polyp in the lacrimal sac. Histopathological examination revealed a plasma cell granuloma. The nature of this uncommon inflammatory pseudotumour of the lacrimal sac is discussed.

Lattice dystrophy of the cornea: a clinicopathological case report.

The clinical and pathological corneal findings in a patient with lattice dystrophy of the cornea type I are presented. Amyloid, the corneal stromal deposit in this dystrophy, has been shown to be heterogeneous by means of immunohistochemical techniques despite uniform ultrastructural features. The possible sources of amyloid include leakage from serum, extracellular breakdown of corneal collagen and, most probably, localized intracellular production.

Effects of dimethyl sulfoxide on a model of corneal alkali injury.

The potential role of dimethyl sulfoxide in minimizing early structural damage to the eye following corneal alkali injury was examined. Corneal alkali injury was induced in rabbits and treated with topical applications of 20% dimethyl sulfoxide. At day 3 the rates of corneal opacification (p less than 0.01) and corneal ulceration (p less than 0.05) were significantly lower in the treatment group than in the control group, but this effect was not sustained during the rest of the study period. Further work is required to determine the therapeutic value of topical dimethyl sulfoxide in combination with other agents, such as cycloplegics, corticosteroids, ascorbic acid and citric acid, in corneal alkali injury.

Oncocytoma of the lacrimal caruncle.

Two cases of oncocytoma of the lacrimal caruncle are presented. This benign tumour is characterized by a uniform population of epithelial cells with abundant, finely granular, eosinophilic cytoplasm. The granules stain blue with Mallorys phosphotungstic acid hematoxylin and can be identified as mitochondria by electron microscopy. An additional 35 cases from the literature are reviewed. The tumour usually occurs in people over the age of 60 years and is more common in women (male:female ratio of 1:5).

Giant papillary conjunctivitis from an exposed prolene suture.

We document an example of unilateral giant papillary conjunctivitis (GPC) following division of a fine-gauge prolene suture employed several months earlier to close a cataract incision. Release of surgically induced astigmatism required relaxation of the suture. The conjunctival response abated with removal of the retained suture fragments. The conjunctival reaction was biopsied and shown to be similar histopathologically to that seen in GPC associated with vernal conjunctivitis and contact lens wear.

Nocardia keratitis.

Unilateral keratitis developed in a 31-year-old man following superficial corneal injury with vegetable foreign material. The corneal inflammation progressed to perforation and endophthalmitis. Nocardia asteroides was eventually identified in an aspirate from the anterior chamber. Aggressive medical and surgical treatment resulted in salvage of the globe and a visual acuity of 6/15. Controversial aspects of the management of this problem are considered.

Sodium hyaluronate for postoperative aphakic choroidal detachment.

Collapse of the anterior chamber, choroidal and ciliary body detachments and ocular hypotony developed without explanation 2 weeks after uneventful intracapsular cataract extraction in a 60-year-old woman. Following an unsuccessful attempt to maintain an adequate chamber depth with air, sodium hyaluronate was injected into the chamber after surgical drainage of suprachoroidal fluid, allowing for spontaneous recovery of aqueous production while protecting the anterior segment from the ravages of chamber collapse.

Benign intracranial hypertension without papilledema: role of 24-hour cerebrospinal fluid pressure monitoring in diagnosis and management.

Nine patients whose history suggested increased intracranial pressure (ICP), but whose funduscopic examination did not reveal papilledema, are described. Cerebrospinal fluid monitoring in seven of the cases showed abnormal pressure waves ranging from 22 to 40 mm Hg. The findings of computed tomography and isotope cisternography and the response to therapy supported the clinical diagnosis of benign intracranial hypertension (BIH). Fluorescein angiography, which was performed in five cases, was normal. None of the patients had enlargement of the blind spot; all had normal intraocular pressure. The clinical spectrum of BIH may need to be enlarged to include cases of increased ICP without clinically evident papilledema. (Neurosurgery, 7: 326-336, 1980).

Malignant glaucoma - the long and short of it.

Malignant glaucoma is a serious complication of surgery for angle-closure glaucoma. We describe three cases which exemplify important aspects of the onset and the management of the condition. It may develop soon after the original operation or only after many years, when it can be difficult to recognize. Simmon's approach to management is highly recommended, and intra-vitreous surgery is only employed if a five-day trial of intensive medical therapy fails.

Eye signs of neurological disorders.

The author discusses common neurologic abnormalities as they involve the visual pathway and the ocular motor system. Mention is also made of the corneal reflex, eyelid closure and the pupillary response. Emphasis is placed on routine examination techniques that would assist the family physician in his office. The importance of early diagnosis is stressed and criteria for referral reviewed.