Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Batten Disease ====== * a.k.a. CLN3-associated disease and Juvenile Ceroid Lipofucinosis * Inherited CNS disorder * Progressive loss of developmental milestones * Movement and Speech dysfunction * Seizures * Psychosis * Retinal degeneration * Vision loss often precedes neurological decline * Most survive into early adulthood ==== Fundus Exam ==== <WRAP round box> {{::batten_disease_fundus.jpg|}}\\ Mild temporal pallor right optic nerve and yellow-orange deposits\\ photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation </WRAP> ==== OCT ==== <WRAP round box> {{::batten_disease_oct.jpg|}}\\ loss of ellipsoid zone in fovea, generalized thinning and distortion of retinal layers, loss of outer retinal layers\\ photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation </WRAP> ==== Fundus Autofluorescence ==== <WRAP round box> {{::batten_disease_fundus_autofl.jpg|}}\\ foveal hypo-fluorescence and ring of hyper-fluorescence in macula\\ photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation </WRAP> ===== Distinguish from Stargardt Disease ===== * More profound and rapid vision loss * Panretinal involvement early in disease seen on ERG * No flecks * Optic atrophy often present early * Neurological symptoms {{tag>syndrome}} syndrome