Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 50-53 |
| Number of pages | 4 |
| Journal | American Journal of Ophthalmology Case Reports |
| Volume | 4 |
| DOIs | |
| State | Published - Dec 1 2016 |
| Externally published | Yes |
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Keywords
- Chromosome microarray
- Epilepsy
- Lysosomal storage disorder
- Neuronal ceroid lipofuscinosis
- Next generation sequencing panel
- Vision loss
ASJC Scopus subject areas
- Ophthalmology
Cite this
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. / Sanchez, Rossana L.; Yan, Jiong; Richards, Sarah; Mierau, Gary; Wartchow, Eric P.; Collins, Christin D.; Shankar, Suma.
In: American Journal of Ophthalmology Case Reports, Vol. 4, 01.12.2016, p. 50-53.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
AU - Sanchez, Rossana L.
AU - Yan, Jiong
AU - Richards, Sarah
AU - Mierau, Gary
AU - Wartchow, Eric P.
AU - Collins, Christin D.
AU - Shankar, Suma
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
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.
KW - Chromosome microarray
KW - Epilepsy
KW - Lysosomal storage disorder
KW - Neuronal ceroid lipofuscinosis
KW - Next generation sequencing panel
KW - Vision loss
UR - http://www.scopus.com/inward/record.url?scp=84988432434&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84988432434&partnerID=8YFLogxK
U2 - 10.1016/j.ajoc.2016.07.005
DO - 10.1016/j.ajoc.2016.07.005
M3 - Article
AN - SCOPUS:84988432434
VL - 4
SP - 50
EP - 53
JO - American Journal of Ophthalmology Case Reports
JF - American Journal of Ophthalmology Case Reports
SN - 2451-9936
ER -