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Progressive Vision Loss in a Child With Cognitive Impairments

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 9-year-old girl was referred to the pediatric retina service to evaluate progressive vision loss. Her medical history included neonatal seizures. She was initially evaluated at an outside institution and was found to have bilateral symmetric vision loss with nyctalopia. The onset of the symptoms was unknown. At that time, her best-corrected visual acuity (BCVA) was 20/70 OU. The patient did not receive any ophthalmological care until 2 years later, when she was seen for marked vision loss and was noted to have a BCVA of light perception in both eyes.

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Juvenile neuronal ceroid lipofuscinosis

B. Genetic testing

Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a group of autosomal recessive lysosomal storage diseases characterized by lipofuscin accumulation in neural tissues including the brain and retina, causing progressive neurodegeneration and premature death.1,2 It can present during childhood or adulthood with progressive vision loss, optic nerve pallor, retinal degeneration, seizures, dementia-like symptoms, and psychomotor regression.24 Vision loss is the most common reason for seeking ophthalmological care.3

Although several genes have been implicated, its pathophysiology is not entirely understood. Most of these genes encode for lysosomal proteins. It is hypothesized that tissues with high mitochondrial turnover are the most affected, such as the retina and optic nerve.5,6 There is no approved treatment for most types of NCL, but several are under investigation.4

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Article Information

Corresponding Author: Audina M. Berrocal, MD, 900 NW 17th St, 2nd Floor, Miami, FL 33136 (aberrocal@med.miami.edu).

Published Online: June 2, 2022. doi:10.1001/jamaophthalmol.2022.1015

Conflict of Interest Disclosures: Dr Berrocal has financial interests in Aerie Pharmaceuticals, ProQR Therapeutics, Oculus Surgical, Alcon, Allergan, DORC, Zeiss, and Novartis. No other disclosures were reported.

Additional Contributions: We thank the patient’s guardian for granting permission to publish this information.

References
1.
Mole  SE , Cotman  SL .  Genetics of the neuronal ceroid lipofuscinoses (Batten disease).   Biochim Biophys Acta. 2015;1852(10 Pt B):2237-2241. doi:10.1016/j.bbadis.2015.05.011PubMedGoogle ScholarCrossref
2.
Schulz  A , Kohlschütter  A , Mink  J , Simonati  A , Williams  R .  NCL diseases.   Biochim Biophys Acta. 2013;1832(11):1801-1806. doi:10.1016/j.bbadis.2013.04.008PubMedGoogle ScholarCrossref
3.
Bohra  LI , Weizer  JS , Lee  AG , Lewis  RA .  Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis.   J Neuroophthalmol. 2000;20(2):111-115. doi:10.1097/00041327-200020020-00010PubMedGoogle ScholarCrossref
4.
Wright  GA , Georgiou  M , Robson  AG ,  et al.  Juvenile Batten disease (CLN3).   Ophthalmol Retina. 2020;4(4):433-445. doi:10.1016/j.oret.2019.11.005PubMedGoogle ScholarCrossref
5.
Katz  ML , Gao  CL , Prabhakaram  M , Shibuya  H , Liu  PC , Johnson  GS .  Immunochemical localization of the Batten disease (CLN3) protein in retina.   Invest Ophthalmol Vis Sci. 1997;38(11):2375-2386.PubMedGoogle Scholar
6.
Sappington  RM , Pearce  DA , Calkins  DJ .  Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis.   Invest Ophthalmol Vis Sci. 2003;44(9):3725-3731. doi:10.1167/iovs.03-0039PubMedGoogle ScholarCrossref
7.
Lambertus  S , van Huet  RA , Bax  NM ,  et al.  Early-onset Stargardt disease.   Ophthalmology. 2015;122(2):335-344. doi:10.1016/j.ophtha.2014.08.032PubMedGoogle ScholarCrossref
8.
Kuper  WFE , Talsma  HE , van Schooneveld  MJ ,  et al.  Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.   Acta Ophthalmol. 2021;99(4):397-404. doi:10.1111/aos.14630PubMedGoogle ScholarCrossref
9.
Beltrán  L , Valenzuela  GR , Loos  M ,  et al.  Late-onset childhood neuronal ceroid lipofuscinosis.   Epilepsy Res. 2018;144:49-52. doi:10.1016/j.eplepsyres.2018.05.005Google ScholarCrossref
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