Szemészet, 1992 (129. évfolyam, 1-4. szám)

1992-12-01 / 4. szám

Szemészet, 129 (1992) 105—107

A Martin Luther Orvosegyetem Szemklinikájának (Halle-Wittenberg) közleménye (igazgató: Dr. med. habil. M. Tost egyetemi tanár)

Angiogliomatosis retinocerebellaris gyakorisága, kórlefolyása és kezelése

Albrecht Krause és Horst Fuhrmeister

A szerzők 1966 és 1991 között 10 beteget kezeltek angiogliomatosis retinocerebellarissal (von Hippel Lindaubetegség) a Martin Luther Orvostudományi Egyetem Szemklinikáján, Halle-Wittenbergben. A kezdeti kórtünetek megbeszélése után ismertetik véleményüket a lehetséges kezelés, különösen a photocoagulatioval kapcsolatban. Súlyos komplikációk ritkán kísérik ezt a kezelési módot. Előrehaladott esetekben a cryo-therápiát és újabban az izotópterápiát is javasolják (ez utóbbit szemészeti tumor centrumban).

A szerzők ismertetik saját terápiás eredményeiket, rámutatnak, hogy a másodlagos maculopathia a sikeres photocoagulatio után javulhat. Nagyon fontos, hogy ismertessük a beteggel betegségét és a kiterjedt, hosszú ideig tartó kezelést, ami a terápiás siker eléréséhez szükséges. Fontos, hogy minden esetben térjünk ki a humángenetikai tanácsadásra.

Kulcsszavak: Angiogliomatosis retinocerebellaris, photocoagulatio, cryotherapia, radiotherapia

Angiogliomatosis retinocerebellaris - its frequency, course and therapy

From 1966 to 1991 ten patients suffering from angiogliomatosis retinocerebellaris (von Hippel-Lindau disease) have been treated in the Department of Ophthalmology at Martin Luther University in Halle-Wittenberg. After having discussed the initial pathological findings, the authors give their opinion on possible therapy, especially photocoagulation. Accompanying heavy complications are rare. In advanced cases cryotherapy and recently also isotope therapy (in an ophthalmological tumour centre) is recommended, too.

The authors report on their therapeutical results. They emphasize that secondary maculopathies can improve after successful photocoagulation. It is very important to inform the patient about the disease and the extensive, protracted treatment necessary for good success of the therapy. In every case humangenetic advice has to be given.

Keywords: Angiogliomatosis retinocerebellaris, photocoagulation, cryotherapy, radiotherapy

Retinal changes as a result of angiogliomatosis retinocerebellaris (HIPPEL, 1904; LINDAU, 1927) have been first described by FUCHS (1882) and COLLINS (1884). In 1911,

Eugen von HIPPEL gave a complete survey of the ocular forms of this disease and also pointed out some pathological anatomical peculiarities found by him in impressive histological investigations.

Angiogliomatosis retinocerebellaris is a blastomatous dysplasia as defined by hamartomas and according to van der HOEVE (1921,1923), it belongs to phacomatoses. The disease is characterized by a polytopical, angioblastic malformation of the organism with dominantly autosomal heredity.

LINDAU (1927) has drawn our attention to the parallel participation of the cerebellum found in 20 per cent of the total amount of cases. At the same time there can occur capillary haemangiomas in the spinal cord and in the medulla oblongata, too. Hence we have to do with a systemic disease to be treated by specialists of several branches commonly.

Concomitant phenomena of this disease are capillary hemangiomas of different degree in the retina. Besides large spherical swellings there can be found hemangiomas in the retinae which are only in statu nascendi. These angiomas cause secondary retinal changes as, for instance, fatty degenerations, splashes of light deposits and tractions of the retina. Later on you can observe bleeding of the eye bulb followed by opacity. In advanced stages the eyes concerned become blind from ablatio retinae or secondary glaucoma. The clinical picture of the retinal vasculature can be very much like that of tortuositas vasorum. Near the angioma, however, the veinous vessels which get in immediate contact with the angioma are often locally blown up.

The differential diagnosis allows to distinguish retinitis exudativa externa (COATS) and retinitis of miliary aneurysms (LEBER) related to one another (THIEL and HOLLWICH, 1970; HENKES, 1983). Furthermore there are morbus EALES, racemose aneurysms (HENKES, 1983) and retinoblastoma (VAIL, 1958). The angioma node occassionally occurring on the optic nerve may feign papillitis or papilledema (PAU, 1979; HUBER and WILDBERG, 1991).

If the disease is treated in an early stage, i.e. in stage I and II according to MEYER-SCHWICKERATH (1959, 1960) when the angioma has the size of up to two papillas diameter, and there are no secondary changes, then the prognosis of recovery is quite good. WESSING (1967) reports on 80 per cent of successful treatment in these stages.

Therapy of angiogliomatosis retinae with radium or X-ray is almost ineffective (literature see WESSING, 1967), whereas diathermic treatment and photocoagulation are more promising (MEYER-SCHWICKERATH, 1956; MEYER-SCHWICKERATH, 1957; WESSING, 1967). Recently some authors also recommend using cryotherapy (APPLE and NAUMANN, 1980; SPALTON et al., 1987; GERKE et al., 1989). In advanced stages, GERKE et al. (1989) recommend vitrectomy combined with endocryotherapy and point out that isotope radiotherapy of angiomas can be successful, too. Nevertheless, photocoagulation remains dominant in the therapy of angiogliomatosis retinae (GERKE et al., 1989). In our opinion one should apply photocoagulation in stage MI according to MEYER-SCHWICKERATH.

Complications caused by photocoagulation are not rare. Small bleedings on the surface of angiomas and ablatio fugax are considered to be comparatively harmless. On the other hand, the so-called large bulb bleeding is always a serious complication (WESSING, 1967; GERKE et al., 1989). By this reason, too, nowadays, one cannot accept primary diathermic coagulation (GERKE et al., 1989).