title: The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.
abstract: Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). Moreover, there are virtually no published data on the occurrence and natural course of intraocular lesions in GD3 patients treated with enzyme replacement therapy (ERT). Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T > C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT. At the age of 23 years, a spectral domain optical coherence tomography (OCT) examination was performed which disclosed the presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body. A 3-year follow-up OCT examination has not shown any significant progression of the fundus lesions. Conclusions To the best of our knowledge, this is the first published report describing the occurrence of newly identified retinal and preretinal lesions occurring during long-term ERT in GD3. We recommend that a careful ophthalmic assessment, including a dilated fundus examination, should be included as part of annual follow-up in patients with GD3. Further studies are needed to understand the nature and clinical course of these changes and whether or not these intraocular findings have any predictive value in the context of neurologic and skeletal progression in GD3.
authors.affiliation: a Department of Endocrinology, Metabolism and Internal Medicine , Poznan University of Medical Sciences , Poznan , Poland ;
authors.forename: Nadia
authors.initials: N
authors.lastname: Sawicka-Gutaj
authors.affiliation: b Hematology Center Karolinska and Department of Medicine at Huddinge , Karolinska Institutet, Karolinska University Hospital Huddinge , Stockholm , Sweden ;
authors.forename: Maciej
authors.initials: M
authors.lastname: Machaczka
authors.affiliation: c Heliodor Swiecicki Clinical Hospital, Ophthalmology Outpatient Clinic, Poznan University of Medical Sciences , Poznan , Poland ;
authors.forename: Izabela
authors.initials: I
authors.lastname: Kulińska-Niedziela
authors.affiliation: d Department of Ophthalmology , NZOZ 'OCU SERVICE' , Poznan , Poland ;
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Bernardczyk-Meller
authors.affiliation: e Department of Obstetrics and Women's Diseases , Poznan University of Medical Sciences , Poznan , Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Gutaj
authors.affiliation: a Department of Endocrinology, Metabolism and Internal Medicine , Poznan University of Medical Sciences , Poznan , Poland ;
authors.forename: Jerzy
authors.initials: J
authors.lastname: Sowiński
authors.affiliation: a Department of Endocrinology, Metabolism and Internal Medicine , Poznan University of Medical Sciences , Poznan , Poland ;
authors.forename: Marek
authors.initials: M
authors.lastname: Ruchała
mesh_terms: D000328:Adult; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006720:Homozygote; D006801:Humans; D008297:Male; D011044:Poland; D012164:Retinal Diseases / Q000150:complications / Q000188:drug therapy*; D041623:Tomography, Optical Coherence
chemical_list: D005962:Glucosylceramidase
keywords: Enzyme replacement therapy; Gaucher disease type 3; intraocular lesions; neuronopathic; optical coherence tomography; retina