Título / Title

RETINITIS PIGMENTOSA WITH GIANT DRUSEN OF OPTIC DISC: CASE REPORT

Introdução / Purpose

Retinitis Pigmentosa is the most common form of hereditary dystrophy reaching 4% of the world population. It is marked by a progressive loss of photoreceptors and dysfunction of the retinal pigment epithelium, leading to retinal dystrophy. In the typical key findings we have bone spicules, optic nerve waxy pallor and retinal arteriolar attenuation. Also there exist drusen of the optic disc with incidence reaching 10%.The clinic is characterized by initial difficulty of adaptation to the dark, leading to night blindness, loss of the peripheral visual field that can happen in the adolescence and lead to blindness. There is no effective treatment for the disease and the goal is to slow the progression of the disease.

Material e Método / Methods

Analysis of a clinical case and literature review.

Resultados / Results

Male, 17 years old with scotomas in both eyes for 1 year. Negative ophthalmologic or background in the family. In fundoscopic examination bone spicules were observed throughout the posterior pole associated with retinal arteriolar atenuation, giant drusen of optic disc. Ocular coherence tomography (OCT) shown the presence of thinning of the retinal inner layers and irregularity of the retinal outer layer in macula of both eyes. Papillary OCT showed elevation of the disc overall, increased nerve fiber layer thickness and increased disk area. Fundus autofluorescence was notice hyperautofluorescenct points in macula associated with hyperautofluorescenct optic disc.

Discussão e Conclusões / Conclusion

Pigmentary retinitis is the major cause of blindness in the economically active population in Brazil and worldwide. This case describe a patient with no family history of pigmentary retinitis as well as no syndromic features, presenting, in addition, giant drusen of optic disc. Because of this characteristics and anamnesis, it is not possible to afirm that is retinitis pigmentosa, requiring a genetic study for better evaluation and other exams do exclude other retina diseases.

Palavras Chave

Retinitis Pigmentosa; Giant Drusen; Optic Disc