Biomedical subjects
Publications and source records attributed to F H Stefani.
A secondary glaucoma due to an intraocular tumour with retinal detachment in a 16-years-old patient whose brother had died of suspected leucaemia illustrates the difficulties in the clinical diagnosis at this age. Although the ophthalmoscopical appearance was that of Coats's lesion a malignant melanoma of the choroid could not be ruled out. The histopathological examination revealed a retinoblastoma.
Following attacks of maxillary sinusitis and pneumonia ocular signs (epiphora and diplopia) developed in a 39-years-old female patient. An ulceration of the skin over the left lacrimal sac with destruction of the lacrimal bone gave way to a fistula to the nose; and simultaneously a left sclerokeratitis developed. Later a similar fistula on the right side occured together with destruction of the nasal bones, left phthisis bulbi and skin ulcerations on the lower lid. Histologically there was a non-specific chronic inflammation compatible with the diagnosis granuloma gangraenescens nasi ("progressive lethal ulceration of the nose") but no evidence for Wegeners granulomatosis. Under immunosuppressive therapy the condition improved and the patient was able to return to work.
Four young and healthy adults with tortuosity of the retinal arterioles of the posterior pole and recurring superficial retinal haemorrhages are described. Two of them had a suspected mild thrombocytopathy without clinical manifestations in other organs. Inheritance of the syndrome was not demonstrated and the pathogenic mechanism still remains obscure. All the described patients had been at risk of a retinopathy of praematurity. Knowing that familial retinal haemorrhages without retinal tortuosity do occur and retinal tortusity may persist as a minimal change of retinopathy of praematurity, it is suggested that this syndrome might be a combination of two entities.
A report is given on a family wherein two males showed albinism; of the female members, who all had been light blonde in childhood, two were carriers (one of them with pigment changes in the iris and the fundus), a third had no ocular changes, while the fourth showed the typical phenomenon of bilateral idiopathic pigment dispersion without glaucoma. The occurrence of pigment dispersion in a family with albinism has not yet been described. It is regarded as accidental combination.
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An AIDS patient with cytomegalovirus (CMV) retinitis was treated with ganciclovir (10 mg/kg) for four days followed by 5 mg/kg for 69 days. Clinically, CMV retinitis improved during therapy. Two weeks after induction of therapy, the patient became increasingly disoriented, and died 78 days after admission. Microscopically, a necrotizing encephalitis with characteristic cytomegalic cells with intranuclear inclusion bodies was observed. We conclude that ganciclovir therapy did not prevent development or progression of CMV encephalitis in the doses used.