PMID- 27099847
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160421
LR  - 20201001
IS  - 2277-9175 (Print)
IS  - 2277-9175 (Electronic)
IS  - 2277-9175 (Linking)
VI  - 5
DP  - 2016
TI  - Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye.
PG  - 34
LID - 10.4103/2277-9175.178798 [doi]
LID - 34
AB  - Chorioretinal coloboma is a congenital defect of the eye caused by improper 
      closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white 
      calcareous deposits that are generally asymptomatic. We report a very rare 
      association of both in a healthy patient with no any systemic syndrome. A 
      16-year-old man was referred to our clinic from suffering blurred vision. Best 
      corrected visual acuity of the right eye was 6/10 and 10/10 in the left one. 
      External ocular and slit lamp examination were normal. Dilated ophthalmoscopy 
      showed marked swelling in both optic nerves and chorioretinal coloboma in the 
      right eye inferiorly. Ultrasonography showed an echodense structure with acoustic 
      shadowing in both eyes consistent with buried ONHD. Visual field testing showed 
      normal field in the left eye and moderate superior field depression in the right 
      eye corresponding to inferior coloboma in funduscopy. Results of general medical 
      and neurologic, cardiologic, and other examinations were normal. To the best our 
      knowledge combination of bilateral ONHD and unilateral chorioretinal coloboma in 
      a healthy patient with no any systemic syndrome has not been published in the 
      literature. We reported this very rare association and recommended examine eyes 
      and other body organs. In such cases that coloboma is associated with ONHD, we 
      should keep in mind Noonan syndrome. The diagnosis of Noonan syndrome is clinical 
      and confirm by the consultant pediatricians and clinical geneticists.
FAU - Dehghani, Ali Reza
AU  - Dehghani AR
AD  - Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, 
      Iran.
FAU - Rezaei, Leila
AU  - Rezaei L
AD  - Emam Khomeini Eye Research Center, Kermanshah University of Medical Sciences, 
      Kermanshah, Iran.
FAU - Ghanbari, Heshmatollah
AU  - Ghanbari H
AD  - Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, 
      Iran.
LA  - eng
PT  - Case Reports
DEP - 20160316
PL  - India
TA  - Adv Biomed Res
JT  - Advanced biomedical research
JID - 101586897
PMC - PMC4815522
OTO - NOTNLM
OT  - Coloboma
OT  - optic nerve head drusen
OT  - retinal detachment
EDAT- 2016/04/22 06:00
MHDA- 2016/04/22 06:01
PMCR- 2016/03/16
CRDT- 2016/04/22 06:00
PHST- 2015/03/03 00:00 [received]
PHST- 2015/08/19 00:00 [accepted]
PHST- 2016/04/22 06:00 [entrez]
PHST- 2016/04/22 06:00 [pubmed]
PHST- 2016/04/22 06:01 [medline]
PHST- 2016/03/16 00:00 [pmc-release]
AID - ABR-5-34 [pii]
AID - 10.4103/2277-9175.178798 [doi]
PST - epublish
SO  - Adv Biomed Res. 2016 Mar 16;5:34. doi: 10.4103/2277-9175.178798. eCollection 
      2016.