Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome.
OBJECTIVE
To report a newly identified syndrome of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma (MPPC).


METHODS
Noncomparative case series.


METHODS
Eight patients with MPPC syndrome.


METHODS
Clinical data collected retrospectively included visual acuity, findings on office examination as well as examination under anesthesia, and, in some cases, fluorescein angiography. Intraoperative findings and postoperative visual acuity and clinical findings were recorded when surgical intervention was performed.


METHODS
Clinical description, intraoperative findings, and surgical outcomes.


RESULTS
All patients were found to have microcornea with corneal diameters of less than 8 mm. In all cases, the crystalline lens was found to be retrodisplaced with massive enlargement and a dramatic posterior lenticonus (posterior megalolenticonus), and the ciliary processes frequently were drawn to the lens capsule. A stalk of persistent fetal vascular tissue extended from the posterior pole of the lens to the optic disc. Posterior chorioretinal coloboma was present in all cases. Some cases also exhibited grossly dysplastic retina. Presentation frequently was asymmetric. Eight eyes of 6 patients underwent lensectomy, vitrectomy, membrane peeling, and fluid-Healon exchange (Healon OVD [sodium hyaluronate]; Advanced Medical Optics, Santa Ana, CA) with functional vision in at least 4 of the 5 patients with postsurgical follow-up.


CONCLUSIONS
Bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma syndrome is a distinct syndrome previously unreported, to the authors' knowledge, and appropriate surgical intervention may result in significantly improved visual function.
Ranchod
Tushar M
TM
Associated Retinal Consultants, Royal Oak, Michigan 48073, USA. tranchod@yahoo.com
Quiram
Polly A
PA
Hathaway
Nolan
N
Ho
Lawrence Y
LY
Glasgow
Ben J
BJ
Trese
Michael T
MT
D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities* / Q000601:surgery; D003103:Coloboma / Q000209:etiology* / Q000601:surgery; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007223:Infant; D007908:Lens, Crystalline / Q000002:abnormalities* / Q000601:surgery; D008297:Male; D054514:Persistent Hyperplastic Primary Vitreous / Q000209:etiology* / Q000601:surgery; D012160:Retina / Q000002:abnormalities* / Q000601:surgery; D012189:Retrospective Studies; D013577:Syndrome; D014792:Visual Acuity; D014821:Vitrectomy