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Celia S Chen

Publications and source records attributed to Celia S Chen.

10 recordsLinked to original sources
PubMed2006

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.

BACKGROUND AND AIM: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a pigmented fundus lesion associated with familial adenomatous polyposis (FAP). CHRPE prevalence has been reported to be increased in subjects with familial or sporadic non-polyposis colorectal cancer (CRC), suggesting that some individuals with non-polyposis CRC have an attenuated form of FAP. Other studies have not confirmed these clinical observations and have failed to identify mutations in the gene responsible for FAP, but the reason for the discrepancy in relation to CHRPE prevalence has not been resolved. We determined the prevalence of CHRPE in subjects without CRC (negative control cohort), subjects with FAP (positive control cohort), and subjects with familial non-polyposis CRC (test cohort). METHOD: A cohort study consisting of 37 negative control subjects, 9 positive control subjects with documented APC gene mutations, and 36 test subjects with familial non-polyposis CRC but no identified pathogenic APC gene mutation. The diagnosis of hereditary non-polyposis colon cancer was excluded in the test cohort by testing for microsatellite instability in tumour tissue. RESULTS: None of the 37 people in the negative control group had CHRPE. Five of nine (56%) patients with FAP had multiple CHRPE lesions. None of the 36 subjects in the test cohort had CHRPE lesions. CONCLUSIONS: Ophthalmoscopy may contribute to risk assessment in families with FAP but not in familial non-polyposis CRC. Care must be exercised when interpreting pigmented fundus lesions because 8-13% of subjects in each of the cohorts had pigmented retinal lesions that were not CHRPE. Bilateral lesions and lesions with a depigmented halo were the hallmarks of CHRPE associated with FAP.

Adenomatous Polyposis Coli↗
PubMed2006

Practical clinical approaches to functional visual loss.

Functional visual loss (FVL) refers to subnormal vision or altered visual fields where no underlying pathology of the visual system can be found. It may be seen in a continuum from frank malingering to hysteria. FVL may first present to the general practitioner or physician and the financial burden of evaluation and potential disability-related claims may be substantial. Diagnosis relies on a high index of suspicion and demonstration with a few simple tests that the patient has better vision than alleged. The aim of this review is to provide a practical approach to examination of patients with suspected functional visual loss. An accurate and early diagnosis of FVL starts with a high index of suspicion. Only a few of the tests need to be learned well, performed smoothly and confidently. These clinical tests obviate the need to perform expensive imaging such as magnetic resonance imaging and if used in the correct setting have the potential to reduce further the cost of diagnosis. Management requires an understanding approach and confrontation is seldom helpful. It is important to stress to the patient that FVL has a good prognosis, thereby providing "a way out" and giving the patient the opportunity to recover.

Blindness↗
PubMed2005

Malignant fibrous histiocytoma of the eyelid: differential diagnosis and management.

PURPOSE: Malignant fibrous histiocytoma (MFH) is a pleomorphic soft tissue sarcoma that occurs rarely in the periocular region. The purpose of this study was to present a case series of periocular MFH and to discuss the differential diagnosis and management. METHODS: This is a retrospective case review of patients diagnosed with periocular MFH from tertiary hospitals and private practices. RESULTS: Four patients, two women and two men with periocular MFH, had a mean age of 81 years (range, 72 to 85 years). All tumors were <5 cm in diameter and of storiform pleomorphic histologic subtype. One was located deep and 3 presented superficially. The initial diagnoses were sarcomatoid carcinoma, atypical fibroxanthoma, and leiomyosarcoma that were subsequently reclassified as MFH. One patient had a frozen section, 1 had fast track paraffin section margin control, and 2 had no frozen section margins at the initial excisions. Histology showed 2 negative margins, 1 close margin, and 1 positive margin that were cleared with wide local excision. Local recurrence occurred in 3 cases, and of these, 1 required orbital exenteration. Adjuvant radiotherapy was given to 3 patients. One had regional node metastases. There were no distant metastases or tumor-related deaths. Mean follow-up period was 36 +/- 35 months (median, 30; range, 1 to 84 months). CONCLUSIONS: This study highlights the difficulties in the clinicopathologic diagnosis of periocular MFH and in particular the distinction of more superficial tumors from atypical fibroxanthoma. The mainstay of treatment is complete surgical excision with wide margins, and consideration should be given to histologic margin control in addition to adjuvant radiotherapy.

Aged↗
PubMed2004

Topical prostaglandin F(2alpha) analog induced poliosis.

PURPOSE: To report poliosis as a side effect associated with topical prostaglandin F(2alpha) (PGF(2alpha)) analogs. METHOD: Case series. RESULTS: Seven patients treated with different topical PGF(2alpha) analogs for primary open angle glaucoma developed bilateral poliosis, either alone or in combination with other adverse effects of PGF(2alpha) analog therapy. CONCLUSION: Poliosis is a possible adverse effect of topical PGF(2alpha) analog therapy which is previously unreported. Topical PGF(2alpha) analog therapy should be included in the differential diagnosis of patients with poliosis.

Administration, Topical↗
PubMed2004

Juvenile arthritis-associated uveitis: visual outcomes and prognosis.

BACKGROUND: The current issues in the management of uveitis associated with juvenile arthritis revolve mainly around the treatment of mild disease and how to treat patients with more severe disease. The aims of this study were to determine the incidence of uveitis in a cohort of patients with juvenile arthritis as well as the nature of treatment and the risk factors for visual loss. METHODS: Review of the charts of 71 patients with juvenile arthritis, as defined by the American Academy of Rheumatology, seen between 1992 and 2001 at a combined rheumatology and ophthalmology clinic. Information collected included the patient's sex, age at diagnosis of arthritis and uveitis, and date of diagnosis of arthritis and uveitis. The rheumatologic diagnosis, results of serologic testing, and details of systemic and topical treatments were also recorded. RESULTS: There were 47 girls and 24 boys ranging in age from 16 months to 13 years. The median age at diagnosis of juvenile arthritis was 4 years and 1 month. Twenty-seven patients (38%) had uveitis. The median age at uveitis onset was 5.9 years, with an average interval of 18 months from the diagnosis of arthritis; 11 patients had uveitis at the time of arthritis diagnosis. There was a positive relation between anti-nuclear antibody positivity and the development of uveitis (p < 0.05). Thirteen (48%) of the 27 patients with uveitis had mild anterior segment inflammation, with fewer than 25 cells in the anterior chamber. This group had spontaneous resolution of uveitis without topical therapy. All the patients without uveitis had a final visual acuity of 6/9 or better. Five of the patients with uveitis had a final visual acuity of 6/36 or worse. Cataract was the most common complication affecting visual outcome. Cataract extraction initially improved the visual acuity, but posterior segment complications and glaucoma compromised the final visual outcome. INTERPRETATION: We found an incidence of uveitis of 38% with long-term follow-up of patients with juvenile arthritis; the uveitis was diagnosed an average of 18 months after the arthritis. Almost half of the patients with uveitis had minor anterior segment inflammation. These patients did not receive topical treatment and had good visual outcomes. Patients with uveitis at the time of diagnosis of arthritis tended to have a worse visual prognosis and experienced persistent uveitis despite treatment. In this series, cataract extraction was beneficial in improving visual acuity immediately postoperatively, but posterior segment changes and glaucoma may compromise final visual outcomes.

Adolescent↗
PubMed2003

Morning glory syndrome and basal encephalocele.

BACKGROUND: Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele. Clinical presentations are varied and often occult. CASE REPORT: We describe a case of bilateral MGS associated with basal encephalocele that was detected by chance when treatment was sought for respiratory distress. CONCLUSIONS: MGS and basal encephalocele should always be suspected in cases of midline deficiencies, particularly when ophthalmic signs of strabismus or poor vision are present. CT and MRI should be performed to delineate the extent of the lesion and a complete hormone screening should be carried out to exclude pituitary deficiency. The pathogenesis of MGS and basal encephalocele are unknown; however, it is thought to occur during the 5th week of embryonic development.

Encephalocele↗
PubMed2003

Discoid lupus erythematosus presenting as madarosis.

PURPOSE: Discoid lupus erythematosus (DLE) is an autoimmune disorder that usually affects the sun-exposed skin. Periocular involvement occurs uncommonly and may progress from eyelid erythema to scarring and madarosis. METHODS: Observational case report. RESULT: A case of DLE that presented with madarosis alone in the absence of preceding skin erythema and scarring. CONCLUSION: Our case demonstrates that DLE may present with madarosis alone in the absence of a history of preceding erythema and scarring. Discoid lupus erythematosus should therefore be considered as a differential diagnosis in chronic blepharitis that persists despite usual medical management and eyelid hygiene. Biopsy should be considered in the presence of clinical features such as erythematous scale on the face and alopecia and sent for direct immunofluorescence staining.

Diagnosis, Differential↗
PubMed2003

Sarcoma and familial retinoblastoma.

BACKGROUND: Retinoblastoma is the most common malignant ocular tumour of childhood. It results from mutations in the retinoblastoma gene, RB1, which may be sporadic or heritable. Only 10-25% of patients have a family history of retinoblastoma and can be assumed to have a heritable RB1 mutation. A small proportion of the remaining patients may have a heritable mutation despite the lack of relatives with retinoblastoma. Heritable RB1 mutations are associated with an increased risk of sarcoma. Described herein are three patients with a past history of retinoblastoma, no family history of retinoblastoma, and a first-degree relative with sarcoma. Mutation analyses were performed on DNA samples from these patients to test for heritable RB1 mutations. METHODS: A genomic DNA analysis of RB1 gene. RESULTS: Heritable mutations in the RB1 gene were identified in two of the three cases. In these two cases, Bayesian risk calculation indicated that the chance of the affected relatives having the familial RB1 mutation was greater than 90%. In the case without an identified mutation, Bayesian risk analysis indicated that the chance of there being an unidentified familial RB1 mutation was low (16%) but could still be clinically significant in managing the family. CONCLUSION: The risk of non-ocular malignancies and the availability of genetic testing for heritable RB1 mutations have important clinical implications for the management of children with retinoblastoma.

Adult↗
PubMed2002

Orbital foreign body misdiagnosed as superior orbital rim fracture.

Orbital foreign bodies may be difficult to diagnose clinically and radiologically. In cases where a foreign body is suspected, both the mechanism of injury and the composition of the offending material need to be taken into account. A case is described of an orbital foreign body misdiagnosed as a superior orbital rim fracture, resulting in persistent ptosis and diplopia, and leading to delayed recovery for the patient, a commercial airline pilot.

Adult↗