PMID- 29503925
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220331
IS  - 2451-9936 (Electronic)
IS  - 2451-9936 (Linking)
VI  - 4
DP  - 2016 Dec
TI  - Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair 
      and review of the eye findings and neurological features.
PG  - 50-53
LID - 10.1016/j.ajoc.2016.07.005 [doi]
AB  - PURPOSE: To report atypical presentation of neuronal ceroid lipofuscinoses type 8 
      (CLN8) to the eye clinic and review clinical features of CLN8. OBSERVATIONS: 
      Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, 
      optical coherence tomography, visual fields and electroretinogram (ERG). 
      Molecular genetic testing using Next Generation Sequencing panel (NGS) and array 
      Comparative Genomic Hybridization (aCGH).The siblings in this study presented to 
      the eye clinic with retinitis pigmentosa and cystoid macular edema, and a history 
      of seizures but no severe neurocognitive deficits or regression. Genetic testing 
      identified a c.200C > T (p.A67V) variant in the CLN8 gene and a deletion 
      encompassing the entire gene. Electron microscopy of lymphocytes revealed 
      fingerprint inclusions in both siblings. CONCLUSIONS: and Importance: Pathogenic 
      variants in CLN8 account for the retinitis pigmentosa and seizures in our 
      patients however, currently, they do not have regression or neurocognitive 
      decline. The presentation of NCL can be very diverse and it is important for 
      ophthalmologists to consider this in the differential diagnosis of retinal 
      disorders with seizures or other neurological features. Molecular genetic testing 
      of multiple genes causing isolated and syndromic eye disorders using NGS panels 
      and aCGH along with additional complementary testing may often be required to 
      arrive at a definitive diagnosis.
FAU - Sanchez, Rossana L
AU  - Sanchez RL
AD  - Department of Human Genetics, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
FAU - Yan, Jiong
AU  - Yan J
AD  - Department of Ophthalmology, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
FAU - Richards, Sarah
AU  - Richards S
AD  - Department of Human Genetics, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
FAU - Mierau, Gary
AU  - Mierau G
AD  - Department of Pathology, Children's Hospital Colorado, 13123, E 16th Ave, Aurora, 
      CO, USA.
FAU - Wartchow, Eric P
AU  - Wartchow EP
AD  - Department of Pathology, Children's Hospital Colorado, 13123, E 16th Ave, Aurora, 
      CO, USA.
FAU - Collins, Christin D
AU  - Collins CD
AD  - Department of Human Genetics, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
FAU - Shankar, Suma P
AU  - Shankar SP
AD  - Department of Human Genetics, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
AD  - Department of Ophthalmology, Emory University School of Medicine, 615 Michael 
      Street, Suite 301, Atlanta, GA 30322, USA.
LA  - eng
GR  - P30 EY006360/EY/NEI NIH HHS/United States
PT  - Case Reports
DEP - 20160827
PL  - United States
TA  - Am J Ophthalmol Case Rep
JT  - American journal of ophthalmology case reports
JID - 101679941
PMC - PMC5757465
OTO - NOTNLM
OT  - Chromosome microarray
OT  - Epilepsy
OT  - Lysosomal storage disorder
OT  - Neuronal ceroid lipofuscinosis
OT  - Next generation sequencing panel
OT  - Vision loss
EDAT- 2016/08/27 00:00
MHDA- 2016/08/27 00:01
PMCR- 2016/08/27
CRDT- 2018/03/06 06:00
PHST- 2016/02/03 00:00 [received]
PHST- 2016/07/08 00:00 [revised]
PHST- 2016/07/25 00:00 [accepted]
PHST- 2018/03/06 06:00 [entrez]
PHST- 2016/08/27 00:00 [pubmed]
PHST- 2016/08/27 00:01 [medline]
PHST- 2016/08/27 00:00 [pmc-release]
AID - S2451-9936(16)30023-8 [pii]
AID - 10.1016/j.ajoc.2016.07.005 [doi]
PST - epublish
SO  - Am J Ophthalmol Case Rep. 2016 Aug 27;4:50-53. doi: 10.1016/j.ajoc.2016.07.005. 
      eCollection 2016 Dec.