Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review.

BACKGROUND

Ocularly, Batten disease is characterized by a rapid deterioration of vision, progressing to blindness within a few years. Onset typically occurs at between 5 and 10 years of age. The fundus shows a bull's eye maculopathy, diffuse pigmentary degeneration, arteriolar attenuation and optic atrophy, and an extinguished ERG.

CASE REPORT AND LITERATURE REVIEW: The visual acuity and ocular health findings of a 7-year-old child, eventually diagnosed with Batten disease, are reviewed. Additionally, a review of the literature concerning the ocular and systemic manifestations of the various ceroid lipofuscinoses is presented.

CONCLUSION

Batten disease is the most likely of the ceroid lipofuscinoses to be manifested in an ophthalmic practitioner's office before the diagnosis of the underlying condition. Although there currently is no treatment for this condition, making the correct diagnosis is important for appropriate low-vision management, educational planning, and genetic counseling.