Diagnosis of retinoblastoma: how good are referring physicians?

[coats disease]

To evaluate accuracy of the referring diagnoses of retinoblastoma to a tertiary cancer referral center .Retrospective chart review of 352 retinoblastoma -related patients seen by the ophthalmic oncology service during a 4 -year period from January 1 , 2004 to October 21 , 2008 . Of these , 111 were referred with a suspicion of new retinoblastoma and were included in the study . Fundus photographs , gender , family history of retinoblastoma , initial symptoms , age , initial and referring physicians ' specialty (eg , pediatrician , general ophthalmologist , retinal specialist ) and their suspected diagnoses were recorded . The main outcome measure was accuracy of diagnosis given by referring providers .Of 111 patients , 62 % had retinoblastoma and 38 % did not . Persistent fetal vasculature (PFV ) and Coats ' Disease were the most common simulating lesions accounting for 31 % and 29 % of the simulating lesions respectively . Other simulating lesions included infrequent cases of rare conditions such as primary ocular teratoma , a retinal pigment epithelial tumor , and astrocytic hamartoma .Retinoblastoma continues to present a diagnostic dilemma . There has been limited improvement in the rate of correct diagnosis in the United States in the last 15 years . There has however been a change in the composition of misdiagnosed lesions with rare conditions accounting for more than 1 /3 of cases . Attention to age , family history , laterality and presenting signs such as globe size can aid diagnosis of retinoblastoma .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated