Abstract
BackgroundWe report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).Case presentationA 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects.ConclusionsThis is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.
Highlights
We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).Case presentation: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia
This is the first description of ocular changes in a patient with GSD Ia and DGS
The presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway
Summary
The association between GSD I and cataract is known in literature [6], instead it has not been previously reported cases of GSD I and DGS associated with ONHD. Our genetic study on the patient and her parents had the objective of verifying whether cataract and/or ONHD had genetic causes, but no specific causative mutation was found. In the case reported the presence of ONHD could be a coincidence, it will be interesting in the future: a) to assess their incidence in patients suffering from DGS and hypocalcemic diseases to check whether they can be caused by metabolic disorders; b) to do NGS studies on patients with ONHD and their parents to examine whether the drusen could be caused by mutations of recessive genes not yet known
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