Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.


Total: 6

                       


(per page)
PMID (PMCID)
25383853
 FEMALE Infant
Choroid plexus in the eye: a case study.
Todorich B, Cummings TJ, Freedman S.
Retin Cases Brief Rep. 2015;9(1):78-82.
Orbital imaging ruled out retinoblastoma, and posterior coloboma was identified.
20814946
 MIXED_SAMPLE Adult
Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD.
Am J Med Genet A. 2010;152A(10):2634-9.
Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including hypospadias and cryptorchidism.
10646753
 FEMALE Infant
Retinoblastoma in an eye with congenital uveal coloboma.
Mills MD, Syed N.
J AAPOS. 1998;2(5):303-4.
Retinoblastoma in an eye with congenital uveal coloboma.
10646753
 FEMALE Infant
Retinoblastoma in an eye with congenital uveal coloboma.
Mills MD, Syed N.
J AAPOS. 1998;2(5):303-4.
This report describes a unique case of unilateral congenital uveal coloboma and ipsilateral retinoblastoma in a patient with no family history of either abnormality and normal cytogenetic analysis.
1416626
 MALE Infant
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
Mauger TF, Makley TA, Davidorf FH, Rogers GL.
Ann Ophthalmol. 1992;24(8):290-4.
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
6771381
 FEMALE Infant, Newborn
Cytogenetic analysis of a case of "13q- syndrome" (46,XX,del 13) using banding techniques.
Wilson L, Hodes BL, Martin AO, Elias S, Ogata E, Simpson JL.
J Pediatr Ophthalmol Strabismus. 1980;17(2):63-7.
In the del(13q) syndrome retinoblastoma, coloboma, and microphthalmia may be present.