Angela Schulz1, Simon Dulz2, Yevgeniya Atiskova3, Jan Wildner3, Eva Wibbeler1, Miriam Nickel1, Martin Stephan Spitzer3, Christoph Schwering1. 1. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 2. Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. s.dulz@uke.de. 3. Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Abstract
PURPOSE: Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span. METHODS: Prospective, observational study to assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central retinal thickness (CRT) measured by optical coherence tomography and general disease progression (Hamburg CLN2 motor language score) in non-classical CLN2 patients. RESULTS: All patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. All cases demonstrated a stable Hamburg motor language CLN2 Score and Weill Cornell LINCL Ophthalmic Severity Score. Visual function remained stable in 4/6 patients, 2/6 patients showed a decrease, 4/6 cases had a stable CRT and 2/6 showed a reduction of CRT. One patient showed a massive macular thinning and low vision. A correlation with a specific mutation or age could not be verified. DISCUSSION: The presented longitudinal study characterizes the variable ocular involvement in non-classical CLN2 disease and contributes to the natural history description. The functional and morphologic data outline the necessity of regular ophthalmic examination. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease.
PURPOSE: Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span. METHODS: Prospective, observational study to assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central retinal thickness (CRT) measured by optical coherence tomography and general disease progression (Hamburg CLN2 motor language score) in non-classical CLN2 patients. RESULTS: All patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. All cases demonstrated a stable Hamburg motor language CLN2 Score and Weill Cornell LINCL Ophthalmic Severity Score. Visual function remained stable in 4/6 patients, 2/6 patients showed a decrease, 4/6 cases had a stable CRT and 2/6 showed a reduction of CRT. One patient showed a massive macular thinning and low vision. A correlation with a specific mutation or age could not be verified. DISCUSSION: The presented longitudinal study characterizes the variable ocular involvement in non-classical CLN2 disease and contributes to the natural history description. The functional and morphologic data outline the necessity of regular ophthalmic examination. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease.
Authors: Angela Schulz; Temitayo Ajayi; Nicola Specchio; Emily de Los Reyes; Paul Gissen; Douglas Ballon; Jonathan P Dyke; Heather Cahan; Peter Slasor; David Jacoby; Alfried Kohlschütter Journal: N Engl J Med Date: 2018-04-24 Impact factor: 91.245
Authors: Anton Orlin; Dolan Sondhi; Matthew T Witmer; Matthew M Wessel; Jason G Mezey; Stephen M Kaminsky; Neil R Hackett; Kaleb Yohay; Barry Kosofsky; Mark M Souweidane; Michael G Kaplitt; Donald J D'Amico; Ronald G Crystal; Szilárd Kiss Journal: PLoS One Date: 2013-08-28 Impact factor: 3.240
Authors: Charles M Lourenço; Andre Pessoa; Carmen C Mendes; Carolina Rivera-Nieto; Diane Vergara; Mónica Troncoso; Emily Gardner; Francisca Mallorens; Lina Tavera; Luis A Lizcano; Nora Atanacio; Norberto Guelbert; Norma Specola; Nury Mancilla; Carolina F M de Souza; Sara E Mole Journal: J Paediatr Child Health Date: 2020-12-30 Impact factor: 1.954