This report for the Belgian Ophthalmological Society concerns a number of fundus diseases, which most ophthalmologists only rarely encounter. Still it is of importance that they should be able to recognize them, not only because most of these eye diseases are treatable when they are diagnosed early enough, but also because they are sometimes associated with major visceral and neurological problems. The ophthalmologist may be the first practitioner to suspect a von Hippel-Lindau's disease or a neurofibromatosis. He should realize at that moment that his role is not only to treat the eyes but also to advise his patient, refer him to other specialists and consider the genetical implications of his diagnosis. Clinicopathologic correlations are of great importance and we felt that it was necessary to emphasize the histopathological aspect of these diseases. A report has to overview the literature on a specific topic. The literature on vascular tumors of the fundus is extremely vast and even if we tried to be as complete as possible, we must confess that we did not cite every author who published on such cases. A third aspect, which was considered as important, was to provide sufficient clinical and histopathologic examples of the various disease, which are reviewed. We are indebted to a large number of friends who kindly authorized the publication of their material. In particular we wish thank Prof. A. Brini (Strasbourg), Dr. D. de Wolff-Rouendaal (Leiden), Prof. P.

Inhalt

Choroidal Hemangioma.- I. Pathogenesis.- II. Clinical forms.- II.1. Solitary choroidal hemangioma.- II.2. Sturge-Weber syndrome.- III. Symptoms.- III.1. Solitary choroidal hemangioma.- III.2. Sturge-Weber syndrome.- IV. Complications.- IV. 1. Retinal complications.- IV.2. Claucoma.- V. Diagnosis.- V.1. Ophthalmoscopy.- V.2. Diaphanoscopy.- V.3. Fluorescein angiography.- V.4. Infrared angiography.- V.5. Radiophosphorus uptake test.- V.6. Ultrasonography.- V.7. Radiography.- VI. Histopathology.- VII. Treatment.- VII.1. Photocoagulation.- VII.2. Retinal detachment surgery in diffuse hemangiomas.- VII.3. Radiotherapy.- 2. Retinal Angiomatosis - von Hippel-Lindau's Disease.- I. Pathogenesis.- II. Incidence.- III. Heredity.- IV. Ocular findings.- IV.1. Retinal angiomatosis.- IV.2. Optic disc angiomas.- IV.3. Optic nerve hemangiomas.- IV.4. Ocular symptoms from intracranial manifestations of vHL diseases.- V. Associated neurological and visceral involvement or von Hippel-Lindau's disease.- VI. Association of vHL disease with other diseases.- VI. 1. Association with other phakomatoses.- VI.2. Association with retinitis pigmentosa.- VII. Diagnosis.- VII. 1. Retinal angiomatosis.- VII.2. Von Hippel-Lindau's disease.- VIII. Differential diagnosis.- IX. Pathology.- IX.1. The endothelial cells.- IX.2. The pericytes.- IX.3. Nestes of round to polyhedral cells.- X. Treatment.- X.1. Radiotherapy.- X.2. Transscleral diathermy.- X.3. Cryotherapy.- X.4. Photocoagulation.- X.5. Surgery.- 3. Capillary Hemangioma of the Optic Disc.- I. Classification of angiomatous tumors of the optic disc.- II. Incidence.- III. Clinical features.- IV. Relationship with von Hippel-Lindau's disease.- V. Diagnosis.- VI. Differential diagnosis.- VI.1. Papiledema.- VI.2. Drusen of the optic disc.- VI.3. Peripapillary, choroidal neovascularization.- VI.4. Arterial macro-aneurysms.- VI.5. Inflammatory conditions.- VI.6. Congenital lesions.- VI.7. Tumors.- VII. Histopathology.- VIII. Treatment.- VIII.1. Radiotherapy.- VIII.2. Photocoagulation.- 4. Cavernous Hemangioma of the Retina and of the Optic Disc.- I. Incidence.- II. Clinical features.- II.1. Age at presentation.- II.2. Presenting symptoms.- II.3. Subjective signs.- II.4. Ophthalmological aspect.- II.5. Evolution.- III. Systemic manifestations - Gass' syndrome.- IV. Differential diagnosis.- V. Histopathology.- VI. Treatment.- 5. Congenital Arteriovenous Communications in the Retina.- I. Pathogenesis.- II. Heredity.- III. Incidence.- IV. Ocular manifestations.- IV.1. Ophthalmoscopic aspects.- IV.2. Anterior segment.- IV.3. Orbit.- V. Wyburn-Mason syndrome.- V.1. Neurological signs.- V.2. Dermatological signs.- V.3. Muscosal involvement.- VI. Evolution of the retinal lesions.- VII. Histopathology.- VII.1. Extraocular AVM.- VII.2. Ocular lesions.- VIII. Diagnosis.- IX. Differential diagnosis.- IX.1. Other phakomatoses.- IX.2. Arteriovenous fistula.- IX.3. Secondary vascular retinal changes.- X. Treatment of the fundus lesions.- 6. Neurofibromatosis or von Recklinghausen's Disease.- I. Pathogenesis.- II. Incidence and heredity.- III. Pathognomonic lesions.- III.1. Pigmentary changes of the skin.- III.2. Neurofibromas.- III.3. Lisch nodules of the iris.- IV. Fundus examinations in von Recklinghausen'Es disease.- IV.1. Choroidal lesions.- IV.2. Retina.- IV.3. Optic disk.- V. Other ophthalmological manifestations.- V.1. Orbit.- V.2. Tumors of the eye (except choroidal and retinal tumors).- V.3. Congenital glaucoma.- V.4. Cataract.- VI. Association with other phakomatoses.- VII. Treatment.- 7. TUBEROUS SCLEROSIS.- I. Incidence and heredity.- II. Diagnostic criteria.- III. Non-ocular manifestations of tuberous sclerosis.- III. 1. Cutaneous manifestations.- III.2. Neurological manifestations.- III.3. Visceral manifestations.- IV. Ocular manifestations of tuberous sclerosis.- IV.1. Clinical aspect.- IV.2. Histopathology.- V. Associations.- 8. Congenital Retinal Telangiectasis.- I. Pathogenesis.- II. Incidence.- III. Heredity.- IV. Clinical aspects.- IV.1. Presenting symptoms.- IV.2. Ophthalmoscopy.- IV.3. Fluorescein angiography.- IV.4. Natural history.- V. Associated conditions.- VI. Differential diagnosis.- VII. Histopathology.- VIII. Treatment.- 9. Idiopathic Juxtafoveolar Retinal Telangiectasis.- I. Incidence.- II. Heredity.- III. Clinical aspects.- III.1. Presenting symptoms.- III.2. Ophthalmoscopic appearance.- III.3. Prognosis.- IV. Differential diagnosis.- IV.1. Diabetic maculopathy.- IV.2. Retinal vein occlusion.- IV.3. Pseudovitelliform macular degeneration.- IV.4. Dominant cystoid macular edema.- IV.5. Other differential diagnosis.- V. Histopathology.- VI. Pathogenesis.- VII. Treatment.- 10. Coats' Syndrome and Retinitis Pigmentosa.- I. Incidence.- II. Clinical characteristics.- III. Differential diagnosis.- IV. Histopathology.- V. Pathogenesis.- VI. Treatment.- 11. Presumed Acquired Retinal Angiomatosis (Adult Coats' Disease).- I. Incidence.- II. Clinical aspects.- III. Differential diagnosis.- III.1. Congenital retinal telangiectasis.- III.2. Von Hippel's disease.- III.3. Peripheral uveitis.- III.4. Malignant melanoma of the choroid.- III.5. Vascular changes in longstanding rhegmatogenous retinal detachment.- IV. Histopathology.- V. Pathogenesis.- VI. Treatment.- 12. Acquired Retinal Macroaneurysms.- I. Incidence.- II. Clinical manifestations.- II.1. Presenting symptoms.- II.2. Ophthalmoscopic findings.- II.3. Fluorescein angiographic findings.- II.4. Classification and evolution.- III. Associated diseases.- III.1 Associated retinal diseases.- III.2. General diseases.- IV. Histopathology.- V. Pathogenesis.- VI. Differential diagnosis.- VI.1. Retinal telangiectasis.- VI.2. Retinal angiomatosis.- VI.3. Retinal cavernous hemangiomas.- VI.4. Congenital vascular anomalies of the optic disc.- VI.5. Disciform macular degeneration.- VI.6. Malignant melanoma.- VI.7. Vitrous hemorrhages from other causes.- VII. Treatment.