Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype.

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a "new" syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita may provide a clue to the molecular aetiology of this multisystem disorder.

Macular oedema with associated uveitis and cataract following presentation of Type 1 diabetes mellitus in severe ketoacidosis.

We present a case of cystoid macular oedema presenting in a newly diagnosed diabetic teenager. She had developed anterior uveitis prior to diabetes and whether this contributed to the subsequent ocular complications remains speculative. The macular changes resolved spontaneously over 6 months without the use of grid laser photocoagulation.

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.

We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has in addition distinct retinal angiomas in one eye. This combination of clinical findings has not been reported previously and is probably due to an autosomal recessive gene defect. Laser photocoagulation and cryotherapy has preserved good function in one eye of each child.

Haematoporphyrin photosensitisation treatment of experimental choroidal melanoma.

Greene amelanotic melanoma transplanted to pigmented rabbit choroid provided the experimental model for studying photosensitisation treatment of choroidal melanoma. Administration of haematoporphyrin derivative (HPD) and subsequent photoradiation with green laser light destroyed much of the melanoma with minimal side effects to normal uvea. The results of treatment were documented by fundus photography and fluorescein angiography. By 24 hours, the irradiated melanoma and surrounding retina appeared whitened and necrotic, with complete non-perfusion of the area. Over the course of one week, the clinical appearance did not alter. Histopathology at 24 hours and 8 days confirmed massive central tumour necrosis, but in all cases this was subtotal. Viable cells were evident at the periphery and also along the base of the tumour. Experimental evaluation of treatment parameters is required before this technique can be recommended for human choroidal melanoma.

Periodic exophthalmos associated with the blue rubber bleb naevus syndrome: a case report.

A 71-year-old woman with the blue rubber bleb naevus syndrome experienced 4 episodes of self-limiting unilateral exophthalmos. Is is suggested that a vascular malformation in the orbit is responsible for this phenomenon. A biopsy sample was taken of one of the cutaneous lesions and studied by light and transmission electron microscopy. The histological appearances are discussed in relation to possible mechanisms causing this periodic exophthalmos.