結節性硬化症100例からみた眼底腫瘤の頻度に関する考察

Incidence of hamartoma of the retina in 100 cases with tuberous sclerosis

　結節性硬化症160例の眼科的精査を行い，眼底腫瘤の大きさと数により算定した眼底scoreを用いて検討したところ，眼底腫瘤が従来の報告より高頻度（87％）に合併し，診断の遅れが著明な不全型例の早期診断に極めて有用なことを示し，た．

We evaluated the eye involvement in a consecutive series of 100 cases with tuberous sclerosis during the past 12-year period. The ages ranged from 2 months to 50 years, average 12.7 years. Both sexes were equally involved.

Epilepsy was present in 94% of the cases, adenoma sebaceum in 81% and mental retardation in 64%. Cases who manifested all the three cardinal signs were classi-fied as complete type. Cases manifesting only one or two cardinal signs were classified as incomplete type. Significantly, cases with incomplete type tended to be diagnosed as tuberous sclerosis at the age of 7 years or later than complete type (p<0.001). The condition occurred sporadically in 77 cases, while the other 23 cases were familial ones from 12 families.

Hypopigmented skin lesions were found in 91 % of the series. Intracranial calcification was detected by CT scanning in 95 %.

The characteristic hamartoma of the retina was detected in 87 % of the series. A `fundus score' was given to each patient according to the size and number of fundus lesions. There was no correlation between the score and the age of the subject. Sectorial depigmenta-tion of the iris and punched-out chorioretinal defects were also seen as further eye involvement of tuberous sclerosis. Unilateral visual impairmant was seen in 3 % of the cases. It was due to primary or secondary effects of hamartoma.

Rinsho Ganka (Jpn J Clin Ophthalmol) 40(2) : 173-176, 1986