Título / Title

BILATERAL RETINAL ASTROCYTIC HAMARTOMAS: FUNDOSCOPIC EXAM CONTRIBUTING TO TUBEROUS SCLEROSIS DIAGNOSIS

Introdução / Purpose

Tuberous Sclerosis Complex (TSC), although rare, can affect several organs with important morbidity. Combined with clinical, radiological and genetic findings, identification of retinal astrocytic hamartomas is extremely important for clinical suspicious, as well as complementary diagnosis.

Material e Método / Methods

Case report of Retinal Astrocytic Hamartomas in patient with tuberous sclerosis

Resultados / Results

A 7-year-old female patient, with TSC suspicious. Born at term, weight 2990g, without gestational intercurrences. The mother, however, had a fetal echocardiogram showing important myocardial hypertrophy. Echocardiogram performed at birth demonstrated multiple rhabdomyomas. The patient started seizures at 3 years and presented speech delay, facial angiofibromas (>3), confetti skin lesions and hypochromic macules (> 3 and > 0.5mm diameter) in the abdomen, back and limbs and shagreen patch on the back . Abdominal US demonstrated cyst in right kidney and cranial MRI showed bilateral cortical hamartomas. At ophthalmologic examination: BCVA 20/25 in the right eye and 20/30 in the left eye, anterior segment was normal. Fundus examination of the right eye revealed 3 multinodular (“mulberry”) lesions, white and elevated, in the nasal, inferior and temporal regions near the optic disc, and a single lesion with similar characteristics overlying the optic disc in the nasal and superior regions of the left eye.
Based on the findings, with 6 major features and 1 minor feature, TSC was suggested and confirmed.

Discussão e Conclusões / Conclusion

TSC is a rare multisystemic genetic disorder, characterized by hamartomatous tumors in many organs, particularly in the brain, skin and retina. The astrocytic hamartoma of the retina is the characteristic ocular finding of the disease. This report reiterates the need of the Ophthalmologist in contributing for diagnosis of the disease as well as its differential diagnoses.

Palavras Chave

Tuberous Sclerosis Complex, retinal astrocytic hamartoma