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  • Title: High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis.
    Author: Kiribuchi K, Uchida Y, Fukuyama Y, Maruyama H.
    Journal: Brain Dev; 1986; 8(5):509-17. PubMed ID: 3799919.
    Abstract:
    A detailed ophthalmological study was performed on a consecutive series of 100 cases with tuberous sclerosis (TS). A fundus score was given to each patient according to the size and number of fundus hamartomas to correlate them with other clinical symptoms. TS-Specific fundus hamartomas were detected in 87% of the subjects. There were no significant differences in the distribution of the scores with age, and considerably high scores were given even for younger infants and children. The fundus scores were higher in sporadic cases or the complete type than in heredofamilial cases or the incomplete type. On fluorescein fundus angiography in 25 patients with 72 hamartomas, various degrees of hyperfluorescence were found in 87% of the lesions, while no leakage was found in the rest. Other ocular findings included depigmented iris sectors in 12 cases, punched-out chorioretinal defects in 9, and unilateral visual impairment due to either primary or secondary effects of the hamartomas in 3.
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