A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.

SUMMARY This report describes a 41-year-old man with an intraocular tumour misinterpreted clinically as choroidal melanoma. The fluorescein angiographic features were not fully characteristic of uveal malignancy, and indeed histopathology revealed the diagnosis of adenocarcinoma of the retinal pigment epithelium. It is suggested that, in cases with the fundus and angiographic findings described here, the rare possibility of adenocarcinoma of retinal pigment epithelium should be kept in mind. Of particular interest were the changing pathological findings in the various parts of the tumour, which paralleled the fluorescein angiographic pattern.Adenocarcinoma of the retinal pigment epithelium is a very rare neoplasm which is notoriously difficult to diagnose clinically and has always prompted enucleation because of its resemblance to choroidal melanoma. '-1 This report describes the case of a male patient who underwent enucleation for a retinal mass that looked like a melanoma and seemed to grow during a follow-up period of one year. The angiographic characteristics were not fully suggestive of melanoma, and indeed the histopathological studies revealed the tumour to be an adenocarcinoma of the retinal pigment epithelium. In such a rare condition, where reports on individual patients constitute the main source of knowledge of the tumour characteristics, it seems worthwhile to publish our case, both for what it illustrates and for the areas of ignorance it exposes. Case reportA 41-year-old male was admitted for investigation following the diagnosis of an intraocular tumour in his left eye. The initial symptoms had appeared six months before admission, when he complained of metamorphopsia and disturbances of visual acuity in his left eye.Ocular examination revealed an entirely normal right eye with 20/20 visual acuity. In his left eye the vision was 20/40, the intraocular pressure was normal, and no anterior segment abnormalities were present, Corrcspondcncc to Victor Godcl, MD,

No abstract

SUMMARY We report a retrospective study of five patients with monocular Fuchs' heterochromic cyclitis associated with an ipsilateral Horner's syndrome. The minimum follow-up was 10 years. The presenting findings were cyclitis in three of the patients and heterochromia iridis associated with blepharoptosis in the other two. The major factors affecting all five patients were cataract and glaucoma. The intraocular pressure was uncontrolled even with maximal therapy, and antiglaucomatous surgery was performed in all cases. A short period of good postoperative control was followed by an intractable ocular hypertension, causing loss of useful vision in all patients. The remarkable combination of Horner's syndrome with glaucoma and their interaction is discussed.Fuchs' heterochromic cyclitis (FHC) is a commoner ocular disorder than has generally been recognised. f It is frequently overlooked when the heterochromia is slight or when all its clinical features are not present at the same time.One of the most serious complications of the disease is glaucoma, which has been observed in 18*6% of the studied cases.6 Although there is no unanimity on the prognosis for the glaucoma in this syndrome,357 recent communications"" suggest that it usually becomes resistant to medical therapy, and surgery is only moderately successful.The purpose of this report is to describe the manifestations of unilateral FHC associated with Horner's syndrome and complicated by ipsilateral glaucoma in five patients. To the best of our knowledge, no similar cases have been previously reported. We discuss the significance of the association and the implications regarding the unfavourable course of the glaucoma in these patients.Case reports CASE 1A 53-year-old male was first seen in May 1970 because of a progressive decrease in visual acuity,

No abstract