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.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


Total: 9

                       


(per page)
PMID (PMCID)
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.
17933676
 MIXED_SAMPLE
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.
Kutzbach B, Mendelsohn N, Rath P, Summers CG.
J AAPOS. 2007;11(5):513-5.
Typical ocular associations include retinoblastoma, microphthalmia, and colobomas.
14746602
 MALE Infant
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome.
Wilson GA, Devaux A, Aroichane M.
Clin Exp Ophthalmol. 2004;32(1):101-3.
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome.
9527342
 FEMALE
Retinoblastoma which developed in microphthalmia.
Lee JS, Shin YK, Geun J, Oum BS.
Acta Ophthalmol Scand. 1997;75(6):730-1.
We report a rare case of retinoblastoma which developed in unilateral microphthalmia.
9527342
 FEMALE
Retinoblastoma which developed in microphthalmia.
Lee JS, Shin YK, Geun J, Oum BS.
Acta Ophthalmol Scand. 1997;75(6):730-1.
A 4-year-old girl presented with a large, intraocular mass in microphthalmia without a family history of retinoblastoma.
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.
A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia.
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) case we report, the findings include colobomas and apparent microphthalmia, although the retinoblastoma sometimes associated with this condition was not observed.
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.