RT Journal Article
SR Electronic
T1 A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 838
OP 843
DO 10.1136/bjophthalmol-2020-316826
VO 105
IS 6
A1 Malena Daich Varela
A1 Wadih M Zein
A1 Camilo Toro
A1 Catherine Groden
A1 Jean Johnston
A1 Laryssa A Huryn
A1 Alessandra d’Azzo
A1 Cynthia J Tifft
A1 Edmond J FitzGibbon
YR 2021
UL http://bjo.bmj.com/content/105/6/838.abstract
AB Aim To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated ‘macular cherry-red spot’.Methods Seven patients with sialidosis type I (mutations in NEU1) and one with galactosialidosis (mutations in CTSA) were included. All patients underwent detailed ophthalmological examinations. The reflectivity of macular optical coherence tomography (OCT) was measured using greyscale analysis (Fiji) and compared with age-matched healthy volunteers. Four patients were evaluated over a time of 1.5+0.5 years.Results The mean age of the patients at their first visit was 27.5+9.8 years. All patients had a macular cherry-red spot, clear corneas and visually non-significant lenticular opacities. The mean visual acuity was LogMar 0.4 (20/50)+0.4 (20/20 to 20/125). Six patients had good visual function. Optic atrophy was present in two individuals with reduced acuity. A significant increase in macular reflectivity was present in all patients compared to age-matched controls (p<0.0001).Conclusion Most of our patients (75%) have preserved visual acuity, even in adulthood. The presence of optic atrophy is associated with poor visual acuity. Increased macular reflectivity by OCT greyscale measurements is noted in all patients, although the underlying biological basis is unknown. These findings complement the current methods for examining and monitoring disease progression, especially in patients for whom visualisation of the cherry-red spot is not entirely clear.Trial registration number NCT00029965.