Units

PubMed

Doi

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Citation

Type

Journal

Publication Date

Issn Print

Pages

Brief description/objective

BACKGROUND
Tuberous sclerosis is a relatively rare disease, but it often takes a progressive and severe course. We wish to demonstrate the typical changes in a patient with tuberous sclerosis and their relevance for the ophthalmologist.

FINDINGS
Ophthalmologic evaluation including funduscopy, 30 degree perimetry and fundus photography and clinical course of a 40-year-old man are described. We observed an elevated, multinodular, opaque hamartoma resembling mulberries, approximately (1/3)-(1/2) PD large, at the temporal superior arc with corresponding visual field defects.

CONCLUSIONS
An ophthalmologist should always think of a tuberous sclerosis as a differential diagnosis when confronted with a retinal hamartoma. Other characteristic ophthalmological findings include facial and eyelid angiofibromas, coloboma of the iris, lens and choroid, strabismus, poliosis of the eyelashes, papilloedema and sector iris depigmentation. Clinical diagnosis of tuberous sclerosis is in most cases relatively easy; however, an interdisciplinary cooperation is needed.