Título / Title

RODS AND CONES DYSTROPHY AND JALILI SYNDROME: A CASE REPORT

Introdução / Purpose

This case report describes a 8-year-old girl with an eye diagnosis of Leber congenital amaurosis and a frame of yellow teeth, brittle and pain.

Material e Método / Methods

The dental evaluation detected the presence of generalized imperfect amelogenesis. Due to the presence of a severe visual impairment the child was referred to an ophthalmologist that exclude the diagnosis of Leber congenital amaurosis and diagnose the presence of cone-rod dystrophy, featuring the Jalili syndrome

Resultados / Results

Physical intra oral examination showed yellow and misshapen teeth. Radiographic examination showed incomplete permanent dentition with the delayed eruption. Visual acuity was compatible with bilateral blindness. The color vision test revealed a complete achromatopsia. The fundus photography showed the macula with abnormal pigmentation. The retinal tomography showed a sensorineural retinal atrophy in the foveal region and the electroretinogram showed no activity of the rods and cones compatible with dystrophy.

Discussão e Conclusões / Conclusion

Jalili syndrome (JS) (OMIM #217080), is a recessively inherited characterized by a combination of imperfect amelogenesis with rods and cones dystrophy caused by a mutation in the CNNM4 gene. We emphasize the importance of Ophthalmologist in aid of diagnosis of this rare systemic disease. Genetic counseling and comprehensive ophthalmologic treatment with optic aid for low vision were offered to the patient.

Palavras Chave

Jalili syndrome, Imperfect amelogenesis, Rods and cones dystrophy

Area

CLINICAL RETINA