Want to take quizzes and track your credits?
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.
Please finish quiz first before checking answer.
Read the answer below and download your certificate.
Read the discussion below and retake the quiz.
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.2- 4 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
Sign in to take quiz and track your certificates
JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC
CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Audina M. Berrocal, MD, 900 NW 17th St, 2nd Floor, Miami, FL 33136 (firstname.lastname@example.org).
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.
You currently have no searches saved.
You currently have no courses saved.