Título / Title

CONGENITAL LEBER AMAROUSIS ASSOCIATED WITH MUTATION IN CBR1 GENE

Introdução / Purpose

To describe funduscopic changes and imaging findings in patients with Congenital Leber Amaurosis associated with mutation in CRB1 gene.

Material e Método / Methods

Male, 16 a, brown, with progressive low visual acuity, since childhood, worse at night, associated with involuntary vertical movements in (AO). He denies consanguinity in the family. The mother did not perform prenatal care and used alcohol and cigarettes during pregnancy. Sisters without ocular and systemic alterations. At birth, the cephalic perimeter was above the 97% percentile and normal neuropsychomotor development. It presents obesity and brachydactyly. Ophthalmic examination 20/80 OD and 20/50 OE, bilateral pseudofacia. At the fundoscopy AO they present optic disk drusen, areas of yellow /whitish and blackish pigmentation in posterior pole and periphery, increase in vascular tortuosity and in extreme periphery vascular lesion (Coats).

Resultados / Results

FAF shows hyperautofluorescent area AO. FA shows delay of arterial filling and hyperfluorescence by extravasation in the periphery in vascular injury region AO. OCT shows attenuation of the differentiation of the internal layers of the retina, thinning of the outer plexiform, thickening of the external nuclear layer, loss of differentiation of the most hyperreflective outer layers and atrophy of the choriocapillar. ERG with absence of rods and 95% decrease in cones. Complementary audiometry and ultrasound examinations of urinary tract were normal. Genetic test identified mutation in CRB1 gene.

Discussão e Conclusões / Conclusion

There are descriptions of mutations in approximately 11 genes, among them CRB1 in Congenital Leber Amaurosis. This gene is responsible for the phototransduction and structuring of the photoreceptors. The fundoscopy and OCT findings, such as increased thickness and loss of retinal layer differentiation, increase suspicion of mutation in this gene. However, genetic test is required for confirmation.

Palavras Chave

Amaurose Congenita de Leber, Gene CRB1, OCT, ERG