Eyelid tumors are the most common neoplasm in daily ophthalmology practice and encompass a wide variety of benign and malignant tumors. In this retrospective study, we report the clinical and ...histological features of 5504 eyelid skin tumors diagnosed at the Laboratory of Ophthalmopathology of the Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland, between January 1989 and December 2007. Benign tumors largely predominated over malignant ones, representing 84% of cases in this series, and the 5 most frequent subtypes were squamous cell papilloma (26%), seborrheic keratosis (21%), melanocytic nevus (20%), hidrocystoma (8%), and xanthoma/xanthelasma (6%). Basal cell carcinoma was the most frequent malignant tumor (86%), followed by squamous cell carcinoma (7%) and sebaceous carcinoma (3%). For several tumor subtypes, there was a poor correlation between clinical and histological diagnosis, stressing the numerous pitfalls in the diagnosis of eyelid tumors. We further discuss our results with reference to previously published series.
Purpose To describe the clinical and angiographic characteristics of peripheral exudative hemorrhagic chorioretinopathy, an uncommon chorioretinal mass lesion, important for its differential ...diagnosis to choroidal melanoma, but only rarely described in the literature. Design Retrospective, institutional chart review. Methods Institutional chart review of 45 patients (56 eyes) diagnosed with peripheral exudative hemorrhagic chorioretinopathy to describe the clinical findings and those obtained by fluorescein angiography (FA) and indocyanine green angiography (ICGA), in addition to a review of the histologic findings of an enucleated eye. Results Peripheral exudative hemorrhagic chorioretinopathy typically was characterized by increased age of the patient (mean, 77 years; range, 60 to 91 years), female preponderance (69%), frequent pigment epithelium detachment, temporal equatorial location, and a highly hemorrhagic and exudative presentation, sometimes extending to the macula. Bilateral involvement (24%) was associated with multiples lesions in the same eye ( P < .001) and with nasal extension ( P < .001). A neovascular origin was suspected on FA, but was more evident on ICGA. Histologic examination of the enucleated eye did not reveal a neovascular network. Conclusions Peripheral exudative hemorrhagic chorioretinopathy is a characteristic peripheral degenerative disorder, frequently with benign outcome, although it can be vision threatening because of hemorrhage or exudation. Clinical features are helpful for its diagnosis. FA and ICGA contribute valuable evidence to the hypothesis of a neovascular origin, but further histologic studies are needed to prove this hypothesis.
To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog (PTEN) ...and neurofibromin 2 (NF2) genes in this rare intraocular tumor.
Observational case report.
A 10-year-old girl diagnosed with PHTS.
The enucleated specimen underwent histologic, immunohistochemical, and transmission electronic microscopy. The expression of PTEN and NF2 and their protein products were evaluated by reverse transcription-polymerase chain reaction and immunohistochemistry. Somatic mutations of PTEN and NF2, as well as allelic loss, were investigated by direct sequencing of DNA extracted from the tumor. PTEN epigenetic silencing was investigated by pyrosequencing.
Histopathologic and molecular characterization of a choroidal pigmented schwannoma.
Histopathologic, immunohistochemical, and electron microscopic analysis demonstrated features consistent with a pigmented cellular schwannoma of the choroid. We found no loss of heterozygosity at the genomic level for the PTEN germline mutation and no promoter hypermethylation or other somatic intragenic mutations. However, we observed an approximate 40% reduction of PTEN expression at both the mRNA and the protein level, indicating that the tumor was nonetheless functionally deficient for PTEN. Although DNA sequencing of NF2 failed to identify any pathologic variants, its expression was abolished within the tumor.
We report the first description of a pigmented choroidal schwannoma in the context of a PHTS. This rare tumor showed a unique combination of reduction of PTEN and absence of NF2 expression.
To evaluate the histologic features of cellular retinal fragments on the internal limiting membrane (ILM) removed during idiopathic macular epiretinal membrane (MEM) peeling surgery with and without ...the aid of indocyanine green (ICG) diluted in 5% glucose.
ILM specimens removed from 88 eyes during idiopathic MEM surgery between 1995 and 2003 were reviewed retrospectively. Histologic analysis focused on the presence and characteristics of retinal fragments on the retinal surface of the ILM. Statistical analysis compared the results between group I (conventional surgery) and group II (ICG-assisted peeling).
Seventy-one eyes underwent MEM surgery without the aid of ICG (group I) and seventeen underwent MEM ICG-assisted surgery (group II). The amount of Müller cell debris on the retinal surface of the ILM was more significant in the group I than in the group II (40.8 vs. 11.8; P = 0.024). Large fragments of Müller cells were more frequently observed in the group I (no ICG) than in the group II (ICG) (63.4 vs. 23.5%; P = 0.003).
The use of ICG diluted with 5% glucose in ILM removal during MEM surgery was associated with less retinal debris attached to the retinal face of the ILM compared with surgery in which ICG was not used.
To examine eyes that underwent vitrectomy and peeling of epimacular membrane and to correlate the functional results with the presence or absence of an internal limiting membrane (ILM) in the ...histologic specimens.
Seventy-one eyes underwent vitrectomy and peeling of an epimacular membrane. These membranes were examined with a transmission electron microscope. Best-corrected visual acuities were recorded before macular surgery, 1 month after surgery, and at the final examination and were compared between group 1 (ILM removed) and group 2 (ILM not removed). The age, gender, status of the lens preoperatively, type of epimacular membrane (idiopathic or secondary), intraoperative and postoperative complications, and elapsed time between vitrectomy and cataract operation were recorded. All 71 eyes were pseudophakic at the final examination. The mean follow-up was 21 months.
Long segments of ILM were found in the specimens from 55 (77%) of the cases. Final visual acuities were better in group 1 (ILM removed) than in group 2 (ILM not removed, P = 0.004). The visual gain was 3.1 lines on the Early Treatment of Diabetic Retinopathy Study chart in group 1 and 0.9 lines in group 2. At the last examination, a recurrent epimacular membrane was observed in 5 (9%) eyes of group 1 and 9 (56%) eyes of group 2.
ILM removal during surgery for epimacular membrane is associated with better final vision and a lower risk of recurrent epimacular membrane.
To describe the clinical and histologic features of a particular form of macular epiretinal membrane.
The charts of all patients operated for macular epiretinal membrane by a single surgeon (E.H.B.) ...between June 2001 and January 2005 were retrospectively reviewed. Patients with macular epiretinal membrane associated with tearing and folding of the internal limiting membrane (ILM) were identified and the following parameters were recorded when available: age, gender, best-corrected visual acuity before and after vitrectomy; optical coherence tomography; pre-, intra-, and postoperative macular status; intraoperative staining by indocyanine green; histology.
Twenty-three of 268 eyes (8.6%) with macular epiretinal membrane were associated with tearing and folding of the ILM, forming a whitish prominent band on the surface of the retina. The mean age of the patients was 68.6 years with a significant female predominance (78.3%). The vitreous was completely detached in 21 eyes. After surgical peeling, the mean visual gain was 3.2 Early Treatment Diabetic Retinopathy Study lines. No recurrence was observed.
Tearing and folding of the ILM was associated with macular epiretinal membranes in 8.6% of cases. The ILM was probably torn during posterior hyaloid detachment, but the pathogenesis has not been clearly elucidated. The surgeon should begin to peel the macular epiretinal membrane by grasping the folded ILM to ensure complete removal of the ILM together with the epiretinal membrane. The postoperative visual prognosis was good.
To determine the types and incidence of caruncular lesions and to investigate the correlation between clinical and histologic diagnosis.
Retrospective, observational case series.
Records of patients ...with a lesion of the caruncle that was excised and submitted to our ocular pathology department between January 1979 and May 2005 were reviewed. Lesions were classified by histologic type and correlated with patient age, gender, and preoperative clinical diagnosis.
A total of 195 consecutive caruncular lesions from 191 patients were identified. Twenty-four different types of lesions were identified; the most common were nevi (n = 92, 47%) and papillomas (n = 29, 15%). One keratoacanthoma was identified. One hundred eighty-three lesions (93.8%) were benign, six (3.1%) were premalignant, and five (2.6%) were malignant. Preoperative clinical diagnosis corresponded to postexcision histologic diagnosis in 73 cases (37.4%). Suspected malignancy was a common reason for excision (61 cases, 31.3%), but malignancy was confirmed in only three (4.9%) of 61 cases. Two of the five malignant lesions were clinically thought to be benign.
We hereby report the first caruncular keratoacanthoma. The rarity and variety of caruncular lesions make clinical diagnosis difficult. Malignancy is clinically overestimated, and some malignant lesions can take a benign aspect, justifying close photographic follow-up of all lesions. Because caruncular malignant melanoma is associated with poor prognosis, pigmented lesions should be monitored carefully. In the absence of clear criteria for malignancy, any change in color, size, or vascularization of a caruncular lesion should hasten excision.
BIGH3 Mutation Spectrum in Corneal Dystrophies Munier, Francis L; Frueh, Beatrice E; Othenin-Girard, Philippe ...
Investigative ophthalmology & visual science,
04/2002, Volume:
43, Issue:
4
Journal Article
Peer reviewed
To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity.
Sixty-one index patients with CDs were subjected to ...phenotypic and genotypic characterization. The corneal phenotypes of all patients were assessed by biomicroscopy and documented by slit lamp photography. The BIGH3 gene was amplified exon by exon from constitutional DNA to perform single-strand conformation polymorphism (SSCP) analysis, followed by direct bidirectional sequencing of abnormal conformers.
The phenotypes of CDs were classified as lattice CD in 30 patients, Groenouw type I in 12 (CDGGI), Avellino in 7 (CDA), Reis-Bückler in 8 (CDRB), and Thiel-Behnke in 4 (CDTB). Fifty occurrences of 16 distinct mutations were identified, including 8 novel mutations responsible for lattice type IIIA in three patients (CDLIIA), intermediate type I/IIIA (CDLI/IIIA) in four patients, and atypical CDL with deep deposits in one patient (CDL-deep).
Disease-causing mutations were identified in 80% of the patients (50/61). All mutations localize in two regions of kerato-epithelin: the amino acid R124 and BIGH3 fasc domain 4. This study also confirms the mutation hot spot at positions R124 and R555 with nearly 50% of the mutations targeting these two amino acids (24/50). In addition the corneal phenotypes induced by changes at R124 and R555 are amino acid specific: R124C in CDLI, R555W and R124S in CDGGI, R124H in CDA, R124L in CRRB, and R555Q in CDTB. In CDLIIIA, CDLI/IIIA, and CDL-deep the genotype-phenotype correlation is domain specific, with all changes occurring at the boundary or within the fasc4 domain.
In the presence of pigmented iris lesions evocative of malignant melanoma and implying oncological treatment, a foregoing biopsy to exclude a benign lesion may seem a reasonable approach. After ...examining patient files, the utility of such a diagnostic approach was explored.
Retrospective, consecutive histopathologic case series of 10 pigmented iris tumor specimens excised since 1993. Histopathologic diagnosis was compared with final diagnosis and outcome in the patient's medical chart.
Five biopsies had only nevus cells, whereas ulterior clinical data or histopathologic examinations were compatible with the diagnosis of malignant melanoma. One biopsy contained insufficient sample tissue. Four biopsies confirmed clinical suspicion of iris melanoma.
In the current case series, 6 out of 10 biopsies provided a falsely reassuring negative or an inconclusive result. Modern management techniques such as ultrasound biomicroscopy and proton therapy of the whole anterior segment have equally diminished indications for a biopsy. In cases clinically evocative of iris melanoma, a biopsy has only a relative value.
To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family.
Family history and clinical data were recorded. The phenotype was documented ...by both slit lamp and Scheimpflug photography. One cortical lens was evaluated by electron microscopy after cataract extraction. Lenticular phenotyping and genotyping were performed independently with short tandem repeat polymorphism. Linkage analysis was performed, and candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing.
Affected individuals had a congenital nuclear lactescent cataract in both eyes. Linkage was observed on chromosome 17 for DNA marker D17S1857 (lod score: 3.44 at theta = 0). Direct sequencing of CRYBA3/A1, which maps to the vicinity, revealed an in-frame 3-bp deletion in exon 4 (279delGAG). This mutation involved a deletion of glycine-91, cosegregated in all affected individuals, and was not observed in unaffected individuals or in 250 normal control subjects from the same ethnic background. Electron microscopy showed that cortical lens fiber morphology was normal.
The DeltaG91 mutation in CRYBA3/A1 is associated with an autosomal dominant congenital nuclear lactescent cataract. A splice mutation (IVS3+1G/A) in this gene has been reported in a zonular cataract with sutural opacities. These results indicate phenotypic heterogeneity related to mutations in this gene.
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