PMID- 28659124
OWN - NLM
STAT- MEDLINE
DCOM- 20171004
LR  - 20181113
IS  - 1471-2415 (Electronic)
IS  - 1471-2415 (Linking)
VI  - 17
IP  - 1
DP  - 2017 Jun 28
TI  - Cataract and optic disk drusen in a patient with glycogenosis and di George 
      syndrome: clinical and molecular report.
PG  - 107
LID - 10.1186/s12886-017-0499-y [doi]
LID - 107
AB  - BACKGROUND: 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. 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. 
      CONCLUSIONS: This 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.
FAU - Allegrini, D
AU  - Allegrini D
AD  - Eye Unit, Humanitas Gavazzeni Hospital, Humanitas University, Bergamo, Italy. 
      davideallegrini@yahoo.it.
FAU - Penco, S
AU  - Penco S
AD  - Medical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.
FAU - Pece, A
AU  - Pece A
AD  - Eye Unit, Melegnano Hospital, Vizzolo Predabissi, Milan, Italy.
FAU - Autelitano, A
AU  - Autelitano A
AD  - Eye Unit, San Paolo Hospital, University of Milan, Milan, Italy.
FAU - Montesano, G
AU  - Montesano G
AD  - Eye Unit, San Paolo Hospital, University of Milan, Milan, Italy.
FAU - Paci, S
AU  - Paci S
AD  - Pediatric Department, San Paolo Hospital, University of Milan, Milan, Italy.
FAU - Montanari, C
AU  - Montanari C
AD  - Pediatric Department, San Paolo Hospital, University of Milan, Milan, Italy.
FAU - Maver, A
AU  - Maver A
AD  - Clinical Institute for Medical Genetics, University Medical Center Ljubljana, 
      Ljubljana, Slovenia.
FAU - Peterlin, B
AU  - Peterlin B
AD  - Clinical Institute for Medical Genetics, University Medical Center Ljubljana, 
      Ljubljana, Slovenia.
FAU - Damante, G
AU  - Damante G
AD  - Medical Genetics Unit, University of Udine, Udine, Italy.
FAU - Rossetti, L
AU  - Rossetti L
AD  - Eye Unit, San Paolo Hospital, University of Milan, Milan, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170628
PL  - England
TA  - BMC Ophthalmol
JT  - BMC ophthalmology
JID - 100967802
SB  - IM
MH  - Adult
MH  - Cataract/diagnosis/*etiology
MH  - Comparative Genomic Hybridization
MH  - DiGeorge Syndrome/*complications/diagnosis
MH  - Female
MH  - Glycogen Storage Disease/*complications/diagnosis
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Optic Disk Drusen/diagnosis/*etiology
MH  - Tomography, Optical Coherence
MH  - Visual Acuity
MH  - *Visual Fields
PMC - PMC5490087
OTO - NOTNLM
OT  - DiGeorge syndrome
OT  - Glycogen storage disease type IA
OT  - Hypocalcemic cataract
OT  - Hypoglycemic cataract
OT  - Microdeletion 22q11.2
OT  - Optic disk drusen
COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Not applicable. CONSENT FOR 
      PUBLICATION: Written informed consent was obtained from the patient for 
      publication of this case report and any accompanying images. The patient has 
      consented to the submission of the case report for submission to the journal. The 
      patient is legally and ethically capable of providing consent for herself 
      according to Italian law. COMPETING INTERESTS: The authors declare that they have 
      no competing interests. PUBLISHER'S NOTE: Springer Nature remains neutral with 
      regard to jurisdictional claims in published maps and institutional affiliations.
EDAT- 2017/07/01 06:00
MHDA- 2017/10/05 06:00
PMCR- 2017/06/28
CRDT- 2017/06/30 06:00
PHST- 2016/06/08 00:00 [received]
PHST- 2017/06/20 00:00 [accepted]
PHST- 2017/06/30 06:00 [entrez]
PHST- 2017/07/01 06:00 [pubmed]
PHST- 2017/10/05 06:00 [medline]
PHST- 2017/06/28 00:00 [pmc-release]
AID - 10.1186/s12886-017-0499-y [pii]
AID - 499 [pii]
AID - 10.1186/s12886-017-0499-y [doi]
PST - epublish
SO  - BMC Ophthalmol. 2017 Jun 28;17(1):107. doi: 10.1186/s12886-017-0499-y.