Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses.
OBJECTIVE
To characterize the retinal features of neuronal ceroid lipofuscinoses (NCLs) and to determine if retinal abnormalities are detectable in carriers of these autosomal recessively inherited diseases.


METHODS
Carriers of the NCLs and their affected children underwent ophthalmic examination including color fundus photography in all patients and fluorescein angiography in selected patients. Twenty-nine patients with NCL were examined and photographed: 3 with infantile form, 2 with late-infantile form, and 24 with juvenile form. Fourteen patients underwent fluorescein angiography.


RESULTS
Infantile and late-infantile retinal findings include fine retinal pigment epithelium pigment atrophy with no bone spicule changes and disk pallor. Juvenile retinal findings include macular retinal pigment epithelium atrophy and pigment stippling (>50%), epiretinal membrane (33%), bull's eye maculopathy (25%), and peripheral bone spicules (46%) and variable disk pallor. Fluorescein angiography of juvenile patients demonstrated diffuse retinal pigment epithelium atrophy with stippled hyperfluorescence (93%). Heterozygous NCL carriers had no identifying retinal abnormalities.


CONCLUSIONS
Significant variability exists in the retinal appearance of the NCLs, but, in general, ophthalmoscopy and fluorescein angiography distinguish these patients from other more common blinding disorders of childhood such as retinitis pigmentosa and Stargardt disease. Examining retinas of parents of affected children does not aid in the diagnosis of NCL.
Hainsworth
Dean P
DP
Mason Eye Institute, Department of Ophthalmology, University of Missouri, Columbia, Missouri 65212, USA. hainsworthd@health.missouri.edu
Liu
Grace T
GT
Hamm
Charles W
CW
Katz
Martin L
ML
D000293:Adolescent; D000328:Adult; D000368:Aged; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019773:Epiretinal Membrane / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D009887:Ophthalmoscopy; D010781:Photography; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D055815:Young Adult