Título / Title

RETINITIS PIGMENTOSA AND ALSTROM SYNDROME: RARE CASE REPORT

Introdução / Purpose

This case report describes a 24-year-old man with an eye diagnosis of retinitis pigmentosa, cardiomyopathy and congenital deafness.

Material e Método / Methods

Case report.

Resultados / Results

The association of early nystagmus, present early in life, hearing loss and dilated cardiomyopathy comes to investigate Alstrom syndrome. Examination showed a subcapsular cataract in both eyes, a visual acuity was hand motions bilaterally. On fundus examination, periphery pigment epithelium irregularities and pale optic disc, narrowed arterioles and extensive proliferations of the pigment epithelium in form of bone spicules in the periphery could be seen. Fundus autofluorescence was reduced in the affected areas, consistent with a chorioretinal atrophy and shadowing by the diffuse bone-spicule bodies. Spectral-domain optical coherence tomography (SD-OCT) showed significant thinning of the outer retinal layers include marked attenuation of all retinal layers. The DNA analysis showed that heterozygote with two ALMS1 gene (OMIM* 606844) is associated with Alstrom syndrome. .

Discussão e Conclusões / Conclusion

Alström syndrome in the world literature since 1959, is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age. We emphasize the importance of genetic evaluation and identification of ocular signs of systemic diseases with potent comorbidities are very important for early identification and possible curative and preventive treatments.

Palavras Chave

Alström syndrome, retinitis pigmentosa and dilated cardiomyopathy.