Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Joanna Karolina Purzycka-OlewieckaKatarzyna Hetmańczyk-SawickaTomasz KmiećDominika SzczęśniakJoanna TrubickaMaciej R KrawczyńskiMaciej PronickiAgnieszka ŁugowskaPublished in: Metabolic brain disease (2022)
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of 'fingerprints' and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the CLN3 gene, among which the most frequently found is the large deletion 1.02 kb spreading on exons 7 and 8. We present 4 patients from 2 families, in whom the deterioration of visual quality and acuity was observed as first clinical sign, when they were a few years old and it was successively accompanied by symptoms of neurologic deterioration (like generalized convulsions with consciousness impairment). In all patients the 1.02 kb deletion in the CLN3 gene was detected in homo- or heterozygosity with other CLN3 pathogenic variant. Ultrastructural studies revealed abnormal structures corresponding to 'fingerprint' profiles (FPPs) in conjunctival endothelial cells. It should be emphasized that in patients with blindness of unknown cause the diagnosis of ceroid lipofuscinosis should be considered and in older children-especially CLN3. The facility of the analysis for the presence of 1.02 kb deletion and economic costs are a solid argument for intensive use of this test in the diagnostic procedure of CLN3.
Keyphrases
- end stage renal disease
- endothelial cells
- ejection fraction
- newly diagnosed
- prognostic factors
- chronic kidney disease
- peritoneal dialysis
- genome wide
- physical activity
- multiple sclerosis
- gene expression
- mild cognitive impairment
- dna methylation
- copy number
- minimally invasive
- autism spectrum disorder
- high resolution
- peripheral blood
- community dwelling