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David L Rogers, Hilliary E Inger, Emily C De Los Reyes; Optic Atrophy as an Early Manifestation of Ocular Disease in CLN2-Associated Batten Disease. Invest. Ophthalmol. Vis. Sci. 2018;59(9):4141.
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Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative disorders of childhood. Late-infantile NCL (LINCL), caused by mutations in the CLN2 gene, presents around age three. Progressive retinal degeneration has been cited as the process responsible for the vision loss in these patients. The Weill Cornell LINCL Ophthalmic Severity Score (WCLOSS) classifies the degree of retinal pathology of LINCL patients on a scale from one (least severe) to five (most severe). Optic atrophy is graded based on observational findings from the dilated fundus exam; severe optic atrophy equates to a score of five on this scale. This study describes optic nerve and macular findings in our series of patients with LINCL.
A retrospective chart review of all patients with CLN2-associated LINCL seen at Nationwide Children’s Hospital was performed. Data collected included macula and optic nerve SD-OCTs, fundus photos, and presenting ophthalmologic exam findings.
Six patients were identified (4 female, 2 male). Age range was 4-6 years. The average OCT retinal nerve fiber layer (RNFL) thickness was 78.6 microns for right eyes and 73.5 microns for left eyes. All patients were found to have either normal or mild optic nerve pallor on clinical exam. All patients had bulls-eye maculopathy. No patient had a WCLOSS greater than three.
CLN2-associated LINCL patients in this study demonstrate RNFL thinning on OCT without apparent disc pallor on clinical exam. This was earlier than expected based on their WCLOSS. The etiology of the optic atrophy is unknown. Early onset optic atrophy may contribute to the vision loss seen in these patients in conjunction with the more obvious retinal pathology. This early finding may aid clinicians in making a clinical diagnosis and assist in differentiating CLN2 patients from other subtypes of the disease. Further study is needed to determine the visual impact and stability of these structural optic nerve changes. OCT RNFL analysis may be a useful addition in the assessment of these patients.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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