Uterine Leiomyosarcoma With Osteoclast-like Giant Cells: Report of 2 Cases and Review of Literature.

Leiomyosarcoma (LMS) with osteoclast-like giant cells (OLGCs) is a rare entity with only 18 reported cases thus far. It is not known whether these OLGCs are a reactive or malignant component of LMS. Herein we describe the clinical, histologic, and molecular characteristics of 2 cases of LMS with OLGCs and perform a brief literature review. In 2 of our cases, the OLGCs, marked with CD68, had a low proliferation index with Ki67 and did not show diffuse positivity for smooth muscle markers by immunohistochemistry. By next-generation sequencing, one case harbored a clinically significant TP53 mutation, which has been reported in a significant subset of conventional LMSs. In this case, based on immunohistochemistry, OLGCs showed different molecular alterations as compared with LMS. Although we did not show a distinct immunophenotype or molecular profile for LMS with OLGCs, this study provides additional data on this rare entity.

Immunohistochemical analysis of glassy cell carcinoma of the cervix reveals robust lymphocyte infiltrate and the expression of targetable inhibitory immune checkpoints.

OBJECTIVE: To validate our previous findings of high-level EGFR expression in GCCC using an expanded cohort of specimens and to further examine the molecular and cellular features of this aggressive malignancy to identify potentially actionable therapeutic targets. METHODS: The SEER database was queried to obtain the epidemiological data regarding the current national survival trends for GCCC. Immunohistochemistry (IHC) was used to examine the expression of EGFR, PD-1, and PD-L1. CiberSort analysis was used to analyze a previously published RNA-sequencing dataset obtained from a single patient diagnosed with GCCC. RESULTS: In comparison to squamous cell carcinomas and adenocarcinoma/adenosquamous carcinomas, GCCC was observed in younger patients (p < 0.001) and demonstrated inferior survival (p < 0.001). All (100%) of the specimens (8/8) exhibited immunoreactivity when stained for CD3ε (T-cell marker), EGFR, PD-1, and PD-L1 whereas CTLA4 expression was not detected. Analysis of RNA-sequencing data revealed that cetuximab and erlotinib altered the chemokine profile, lymphocyte abundance, and expression of inhibitory immune checkpoints in a single patient when combined with cytotoxic chemotherapy in a single patient. CONCLUSIONS: The data from this descriptive study suggests that immune checkpoint blockade, whether single agent or in combination, may be a suitable therapeutic option for a disease for which targeted approaches do not currently exist.

Clinico-pathological significance of suspicious peritoneal cytology in endometrial cancer.

BACKGROUND AND OBJECTIVES: Suspicious peritoneal cytology refers to the result of peritoneal cytology testing that is insufficient in either quality or quantity for a definitive diagnosis of malignancy. This study examined characteristics and survival outcomes related to suspicious peritoneal cytology in endometrial cancer. METHODS: A population-based retrospective study by querying the National Cancer Institute's Surveillance, Epidemiology, and End Results Program was conducted. A total of 41,229 women with Stage I-III endometrial cancer who had peritoneal cytologic sampling at hysterectomy from 2010 to 2016 were examined. A Cox proportional hazard regression model and a competing risk analysis with Fine-Gray model were fitted to assess survival outcome related to suspicious peritoneal cytology. RESULTS: Suspicious peritoneal cytology was seen in 702 (1.7%) cases. In multivariable models, suspicious peritoneal cytology was associated with increased risk of endometrial cancer mortality (subdistribution-hazard ratio [HR] 1.69, 95% confidence interval [CI] 1.29-2.20, p < 0.001) and all-cause mortality (adjusted-HR: 1.55, 95% CI: 1.27-1.90, p < 0.001) compared with negative peritoneal cytology. Sensitivity analysis demonstrated that suspicious peritoneal cytology had discrete overall survival improvement compared with malignant peritoneal cytology in a propensity score weighting model (HR: 0.85, 95% CI: 0.72-0.99, p = 0.049). CONCLUSION: Our study suggests that suspicious peritoneal cytology may be a prognostic factor for decreased survival in endometrial cancer.

Validity and prognostic significance of sperm protein 17 as a tumor biomarker for epithelial ovarian cancer: a retrospective study.

BACKGROUND: Prior small studies have shown increased expression of sperm protein 17 (Sp17) in epithelial ovarian cancer (EOC) tissue and suggest Sp17 as a potential biomarker for EOC. However, how Sp17 expression varies with histology, grade, and stage of EOC and its expression in other ovarian neoplasms has not been defined. It is unknown whether patients with EOC have elevated serum Sp17 levels or if Sp17 expression is associated with survival outcomes. METHODS: The study included 982 patients with benign, borderline, and malignant ovarian neoplasms and normal ovary. There were 878 patients with tissue only, 39 with serum only, and 65 with matching serum and tissue. Immunohistochemical (IHC) staining with anti-Sp17 antibody was performed on tissue specimens and the intensity scored as weak, moderate, or strong. A sandwich enzyme-linked immunosorbent assay (ELISA) was performed to measure Sp17 sera concentrations. RESULTS: Sp17 expression was most commonly seen in serous cystadenomas (83%) and serous borderline tumors (100%). Of the 773 EOC specimens, 223 (30%) expressed Sp17. Grade and histology were significantly associated with Sp17 expression among EOC specimens (p < 0.001) on both univariate and multivariable analysis, with grade 1 serous adenocarcinomas showing the highest expression (51%). Sp17 expression was limited in other benign and non-epithelial malignant neoplasms. Neither Sp17 tissue expression nor serum concentration correlated with survival outcomes. Serum concentrations were higher in patients with Sp17 tissue expression, and the highest concentrations were noted among patients with serous and clear cell adenocarcinomas. CONCLUSIONS: Sp17 is highly expressed in benign, borderline, and low grade malignant serous ovarian neoplasms and can be quantified in serum. Sp17 expression may have diagnostic significance in this subset of patients.

Microfocus of Anaplastic Carcinoma Arising in Mural Nodule of Ovarian Mucinous Borderline Tumor With Very Rapid and Fatal Outcome.

A 36-yr-old woman presented with abdominal discomfort. A computed tomography scan revealed a large left cystic and solid pelvic mass without evidence of metastatic disease. Total hysterectomy with bilateral salpingo-oophorectomy and tumor staging was performed. Grossly, the ovarian mass measured 20×18 cm and the cut surface was multiloculated with 1 single mural nodule measuring 2×1.5 cm. The histologic diagnosis of ovarian mucinous borderline tumor with a microfocus of anaplastic carcinoma arising in sarcoma-like mural nodule, FIGO Stage IA was rendered. After 3 mo, the patient returned with symptomatic anemia. A computed tomography scan showed enlarged retroperitoneal and pelvic lymph nodes. Image-guided biopsy of the pelvic lymph node showed a metastatic anaplastic carcinoma from her primary ovarian carcinoma. Chemotherapy was initiated, but the patient developed fulminant disseminated intravascular coagulation within <1 wk of her presentation which was fatal.

Consistency of endometrial receptivity array and histologic dating of spatially distinct endometrial samplings: a prospective, blinded study.

Objective: To compare the consistency of endometrial receptivity array (ERA) and histologic dating among 3 spatially distinct endometrial samples obtained during a cycle of exogenous estrogen and progesterone. Design: Prospective blinded study. Setting: University practice. Patients: Twelve patients undergoing a mock frozen embryo transfer cycle. Intervention: Endometrial biopsy was performed in a manner that provided a spatially organized endometrial specimen, corresponding to the fundus, middle, and lower segment. Each of these 3 sections was further divided into immediately adjacent specimens for ERA and histology. Main Outcome Measure: Consistency of the ERA and histology results among fundal, mid, and lower endometrial biopsy specimens. Results: The ERA showed variability in outcome among different patients but dated all specimens originating from the same patient identically. Histologic dating showed variability between patients as well as between different locations within the uterus. When comparing average dating results for each patient, we saw a positive correlation between histologic and ERA dating (Spearman Rho = 0.45); however, this did not reach statistical significance. The ERA results from upper, mid, and lower uterine biopsy specimens were identical for each autologous biopsy, whereas histologic dating showed variability with an average standard deviation of 0.71 days. Conclusions: The increased heterogeneity of histologic dating is likely to be attributed to the subjectivity of the test. Furthermore, we did not observe a consistent lag or advancement in histologic or ERA dating between the fundal or lower uterine biopsies. Overall, clinicians should be reassured that endometrial tissue will return consistent ERA results independent of the location within the uterus in which it was obtained.

Comparison of low-light nonmydriatic digital imaging with 35-mm ETDRS seven-standard field stereo color fundus photographs and clinical examination.

PURPOSE: To compare agreement between diagnosis of clinical level of diabetic retinopathy (DR) and diabetic macular edema (DME) derived from nonmydriatic fundus images using a digital camera back optimized for low-flash image capture (MegaVision) compared with standard seven-field Early Treatment Diabetic Retinopathy Study (ETDRS) photographs and dilated clinical examination. Subject comfort and image acquisition time were also evaluated. SUBJECTS AND METHODS: In total, 126 eyes from 67 subjects with diabetes underwent Joslin Vision Network nonmydriatic retinal imaging. ETDRS photographs were obtained after pupillary dilation, and fundus examination was performed by a retina specialist. RESULTS: There was near-perfect agreement between MegaVision and ETDRS photographs (κ=0.81, 95% confidence interval [CI] 0.73-0.89) for clinical DR severity levels. Substantial agreement was observed with clinical examination (κ=0.71, 95% CI 0.62-0.80). For DME severity level there was near-perfect agreement with ETDRS photographs (κ=0.92, 95% CI 0.87-0.98) and moderate agreement with clinical examination (κ=0.58, 95% CI 0.46-0.71). The wider MegaVision 45° field led to identification of nonproliferative changes in areas not imaged by the 30° field of ETDRS photos. Field area unique to ETDRS photographs identified proliferative changes not visualized with MegaVision. Mean MegaVision acquisition time was 9:52 min. After imaging, 60% of subjects preferred the MegaVision lower flash settings. CONCLUSIONS: When evaluated using a rigorous protocol, images captured using a low-light digital camera compared favorably with ETDRS photography and clinical examination for grading level of DR and DME. Furthermore, these data suggest the importance of more extensive peripheral images and suggest that utilization of wide-field retinal imaging may further improve accuracy of DR assessment.

Borderline Brenner Tumor of the Ovary Coexisting With an Ovarian Mucinous Cystadenoma With Focal Atypical Epithelial Proliferation: A Rare Case With Review of the Literature.

Ovarian Brenner tumors, accounting for ∼5% of overall ovarian epithelial neoplasm, are often reported in association with mucinous neoplasm. Histogenetically, the two tumors are thought to arise from similar precursors. To date, fewer than 60 borderline Brenner tumors alone have been reported, and the concomitant presence of atypical proliferative components in Brenner and mucinous tumors is even rarer. Therefore, the clinicopathological characteristics and prognosis of patients with the borderline Brenner tumors alone or coexisting with mucinous neoplasm are extremely limited. Herein, we report a unique case of a 53-year-old woman with a unilateral ovarian borderline Brenner tumor associated with focal atypical mucinous epithelial proliferation and her clinical presentations. The clinicopathological features of the tumor are documented and the literature review along with the clinical molecular advances are summarized in this study.

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PURPOSE: To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes. DESIGN: Multicentered retrospective observational study. PARTICIPANTS: After exclusion of 28 subjects, 169 patients with the diagnosis of LCA and 27 patients with early childhood-onset RP were included in the study because the underlying mutations in AIPL1, GUCY2D, RDH12, RPE65, CRX, CRB1, RPGRIP1, CEP290, LCA5, and TULP1 genes could be identified in this cohort of patients. METHODS: We collected data on best-corrected visual acuity as recorded at the time of the patient's most recent visit to one of the participating ophthalmology departments. The median and range of visual acuities for each genetic subtype were calculated separately for the LCA and early childhood-onset RP groups. MAIN OUTCOME MEASURES: The range and median best-corrected visual acuities for each genetic subtype and age-related mean visual acuities for each genetic subtype. RESULTS: A wide variation in visual acuity was observed in patients with LCA and RPE65, RDH12, and CRB1 mutations, whereas AIPL1, GUCY2D, CRX, and RPGRIP1 gene mutations were associated with severely decreased visual acuities beginning within the first year of life. It was also noted that patients with either an RPE65 or CRB1 mutation have progressive visual loss with advancing age. Onset of visual symptoms after infancy was associated with a relatively better visual prognosis. CONCLUSIONS: The data obtained from this study will help clinicians provide counseling on visual prognosis to patients with known mutations in LCA genes and be of value in future studies aimed at the treatment of LCA and early childhood-onset RP.

Utility of rapid on-site evaluation for needle core biopsies and fine-needle aspiration cytology done for diagnosis of mass lesions of the liver.

BACKGROUND: Fine-needle aspiration (FNA) and core biopsy (CB) are used to diagnose liver lesions. Rapid onsite evaluation (ROSE) can improve the adequacy of the procedures and help triage diagnostic material appropriately. There are very few studies evaluating the role of ROSE for CB and FNA of mass lesions of the liver. METHODS: Liver cases with ROSE material from 2007 to 2017 were retrieved and reviewed. The ROSE material was re-evaluated by 2 cytopathologists who were blinded to the final diagnosis. Data including age, number of lesions, number of passes, adequacy assessed at time of procedure, and diagnosis made by cytopathologist on ROSE material at time of re-review was compiled. RESULTS: A total of 82 cases were identified; 33 were primary lesions (group A) and 49 were metastatic lesions (group B). ROSE done by cytotechnologist at time of procedure showed an adequacy rate of 84%. During re-review of ROSE material by cytopathologists, the overall adequacy rates were similar, although the adequacy rates in group B increased (to 100% from 92%) and it dropped in group A (from 73% to 52%). The overall accuracy rate was 90%. Hepatocellular adenoma, regenerative nodules, well-differentiated hepatocellular carcinoma, and angiosarcoma were not possible to diagnose on smears alone during ROSE. CONCLUSIONS: ROSE for liver lesions is useful for assessing adequacy. Certain lesions cannot be accurately diagnosed on ROSE alone. ROSE material when assessed by cytopathologist can improve adequacy rate and possibly decrease number of nondiagnostic specimens in group A, though the cost effectiveness needs to be assessed.

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

OBJECTIVE: To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disease. METHODS: The 2 brothers underwent complete ophthalmic examination that included best-corrected visual acuity, slitlamp biomicroscopy, and detailed fundus examination. Visual field recording using Goldmann kinetic perimetry and a full-field electroretinogram were also obtained in both patients. Mutational screening was performed for RPGR because of an X-linked pattern of inheritance indicated by pedigree analysis. RESULTS: One brother had a phenotypic expression of cone-rod dystrophy, while the other exhibited X-linked retinitis pigmentosa. A 1-nucleotide deletion was identified in the 3' region of exon ORF15 of RPGR (ORF15 + 1339delA). CONCLUSIONS: An identical mutation in RPGR-ORF15 manifested distinct clinical phenotypes in individuals of the same family. Our data provide strong evidence in support of additional modifier genes that can produce diverse disease phenotypes in patients with RPGR mutations. CLINICAL RELEVANCE: The clinical observation of different retinal phenotypes in a family with the same mutation in exon ORF15 of RPGR implicates the potential importance of modifier genes for the phenotypic expression of this form of X-linked retinal disease.

Overexpression of HOMER2 predicts better outcome in low-grade endometrioid endometrial adenocarcinoma.

We have previously shown that HOMER2 (Homer scaffolding protein 2), a protein coding gene, was highly expressed in low grade (LG) endometrioid adenocarcinoma (EAC) of the uterus. The role of HOMER2 in endometrial cancer (EC) is widely unknown; therefore, the aim of this study was to determine the expression and the predictive value of HOMER2 protein expression in series of patients with EC. HOMER2 protein expression was detected on paraffin-embedded tissues from 336 cases using immunohistochemistry (IHC). Tumours were categorised in two groups; group 1 (EAC, FIGO grade 1 and 2; n = 191) and group 2 (all other subtypes including grade 3 EAC; n = 145). Statistical analysis was performed to evaluate associations between HOMER2 protein expression and pathological parameters (histological type, grade, stage, lymphovascular invasion, myometrial depth of invasion) and patient outcome [progression-free survival (PFS) and cancer-specific survival (CSS)]. HOMER2 was significantly overexpressed in group 1 compared to group 2 cancers (67% versus 30%; p < 0.001) and with low tumour grade (p < 0.001). In group 1, HOMER2 overexpression was an independent prognostic factor for improved CSS (adjusted-hazard ratio 0.28; 95% confidence interval 0.08-0.96; p = 0.042). HOMER2 expression was not associated with survival in group 2 (p > 0.05). This is the first study of HOMER2 protein expression in EC. We speculate that HOMER2 may be involved in tumourigenesis of endometrioid uterine tumours and suggest that HOMER2 should be studied further for potential clinical and therapeutic applications.

Retinal nerve fiber layer defects in RP patients.

PURPOSE: To determine, with the use of optical coherence tomography (OCT), the peripapillary retinal nerve fiber layer (RNFL) thickness among patients with retinitis pigmentosa (RP) of different degrees of disease severity. METHODS: One eye in each of 25 RP patients was included. All patients underwent complete ocular examination, including the measurement of intraocular pressure, corneal thickness, and detailed fundus examination. Visual fields were evaluated by Goldmann perimetry. An RNFL thickness protocol was used to acquire circular scans of 3.46 mm in diameter around the optic nerve. For each eye, RNFL thickness was studied in the temporal (316 degrees -45 degrees ), superior (46 degrees -135 degrees ), nasal (136 degrees -225 degrees ), and inferior (226 degrees -315 degrees ) quadrants. Three smaller segments were also measured within each quadrant, all automatically calculated by the existing OCT software. The severity of damage to the peripapillary nerve fiber layer was compared with the clinical appearance of the optic disc, severity of field loss, and mode of inheritance for RP. RESULTS: The mean age of patients included in the study was 48.6 years (range, 23-73 years). Of the 25 patients examined, 10 had abnormal thinning of the peripapillary RNFL in 2 or more segments, and 7 of those had abnormal thinning in at least 1 quadrant. The number of patients with abnormal thinning of the RNFL was considerably greater in those with clinically observed moderately severe or severe pallor of the optic disc than in those with normal appearance or mild pallor of the optic disc. No consistent association was noted between the remaining visual field and the presence of a RNFL defect (P > 0.05). CONCLUSIONS: Patients with retinitis pigmentosa may have a measurable degree of RNFL thinning as determined by OCT. These observations could have an impact on future treatment strategies and imply that patients considered for various treatment options would benefit by an evaluation of nerve fiber layer thickness.

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

OBJECTIVE: To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. METHODS: Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA. RESULTS: At the initial visit, 14 patients had measurable chart VA in the better-seeing eye, 25 patients had nonmeasurable chart VA, and 4 young patients did not have VA assessed. At the most recent visit, 15 patients had measurable chart VA and 28 had nonmeasurable chart VA. The average interval between the 2 visits was 10.4 years (range, 2-47 years). For patients with measurable chart VA, the median logMAR value at the initial visit (0.75; range, 0.10-2.30) and at the most recent visit (0.70; range, 0.10-2.00) did not differ significantly (P> .05). There was no significant relationship between VA and age. CONCLUSIONS: Patients with LCA and CEP290 mutations had a wide spectrum of VA that was not related to age or length of follow-up. Severe VA loss was observed in most, but not all, patients in the first decade. These data will help clinicians provide counseling on VA changes in patients with CEP290 mutations and could be of value for future treatment trials.

Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked retinoschisis.

OBJECTIVE: To determine the efficacy of sustained topical therapy with dorzolamide hydrochloride, 2%, on visual acuity and cystic macular lesions in patients with juvenile X-linked retinoschisis (XLRS). DESIGN: Retrospective analysis. SETTING: University hospital, tertiary care referral center. PATIENTS: Twenty-nine eyes of 15 patients with XLRS receiving treatment with the topical dorzolamide formulation for 4 to 41 months were enrolled. MAIN OUTCOME MEASURES: Changes in visual acuity, cystic macular lesions, and central foveal zone thickness on optical coherence tomography during follow-up for the duration of treatment. RESULTS: Among the 15 patients with XLRS, 20 eyes (69%) of 11 patients showed a positive response to treatment. Five of the 20 eyes (25%) in 3 of the 11 patients showed an initial response and a subsequent rebound of macular cysts. In 4 eyes (14%) of 3 patients, there was no response to treatment, but the macular cysts did not worsen compared with the baseline level. In 5 additional eyes (17%) of 4 patients, there was no response to treatment, and the macular cysts worsened when compared with the baseline level. Sixteen eyes (55%) of 12 patients had improvement in best-corrected visual acuity by at least 7 letters in at least 1 eye at the most recent follow-up visit. Seventeen eyes (59%) of 10 patients showed a reduction in the central foveal zone thickness in at least 1 eye when compared with the pretreatment level. CONCLUSION: Patients with XLRS have the potential to experience a beneficial effect from sustained treatment with dorzolamide, 2%.

Vitreous proteomics and diabetic retinopathy.

Diabetic retinopathy is the major cause of acquired blindness in working-age adults. Studies of the vitreous proteome have provided insights into the etiology of diabetic retinopathy and suggested potential molecular targets for treatments. Further characterization of the protein changes associated with the progression of this disease may suggest additional therapeutic approaches as well as reveal novel factors that may be useful in predicting risk and functional outcomes of interventional therapies. This article provides an overview of the various techniques used for proteomic analysis of the vitreous and details results from various studies evaluating vitreous of diabetic patients using the proteomic approach.

Natural history of phenotypic changes in Stargardt macular dystrophy.

Stargardt macular dystrophy is the most common form of juvenile onset macular degeneration. This article reviews the four stages through which this dystrophy may progress. Also, reviewed here are the variations that may be observed in the visual acuity of patients with Stargardt disease.

Flecked-retina syndromes.

A number of retinal disorders may present with fleck-like lesions in the retina. We describe the case of a 13-year-old girl who presented with a complaint of decreased vision and prior diagnosis of "fleck-retina." Further examination revealed that the patient had an autosomal recessive disorder associated with systemic manifestations. In the current article, the authors describe the case report and briefly review the various autosomal-recessive disorders that may present with "retinal flecks."

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

PURPOSE: To determine if a positive response of macular cysts to treatment with dorzolamide eye drops in patients with juvenile X-linked retinoschisis (XLRS) can occur with mutations that result in different types of retinoschisin protein dysfunction. DESIGN: Retrospective case series. METHODS: Thirteen eyes of seven patients seen at the University of Illinois at Chicago with a known diagnosis of XLRS were included. Each patient had received or currently was receiving treatment with topical dorzolamide. One patient from each family was screened for a genetic mutation. Using the method of cell transfection and protein preparation, the mutation in each patient was analyzed further and was categorized into one of three groups: 1) total absence of retinoschisin protein secretion, 2) decreased expression of the secreted protein, or 3) secretion of a nonfunctional protein. The response to dorzolamide was observed using optical coherence tomography. RESULTS: Significant improvement in the foveal zone thickness was observed with the use of dorzolamide in three of four patients with absence of protein secretion, in two patients with a lack of protein expression, and in one patient with a nonfunctional protein secretion. CONCLUSIONS: This study showed that the response of macular cysts to dorzolamide in patients with XLRS may be observed independent of the mechanism responsible for retinoschisin protein dysfunction. Hence, treatment with dorzolamide may be effective in patients with different mechanisms of dysfunction in retinoschisin.

Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT.

PURPOSE: To determine peripapillary retinal nerve fiber layer thickness (RNFL) abnormalities in patients with retinitis pigmentosa (RP) using Fourier-domain optical coherence tomography (Fd-OCT) and to evaluate the potential effect of cystoid macular edema (CME) or axial length on RNFL measurements in such patients. METHODS: Ninety-seven eyes of 52 patients with diagnoses of retinitis pigmentosa or Usher syndrome type II underwent complete ocular examination. Peripapillary RNFL thickness was measured using Fd-OCT in 16 segments from 4 quadrants--temporal (316 degrees -45 degrees ), superior (46 degrees -135 degrees ), nasal (136 degrees -225 degrees ), and inferior (226 degrees -315 degrees ). These measurements were compared with age- and disc size-adjusted control values. Further analyses were performed to determine the correlation of axial length or CME with RNFL thickness. RESULTS: Thinning of the RNFL was observed in 37 eyes (38.14%) of 23 patients (44.23%). A maximum number of eyes had thinning in the nasal quadrant followed by the inferior quadrant; the superior and temporal quadrants were abnormally thin in fewer eyes. No correlation was found between axial length and RNFL thickness in the total cohort (correlation coefficient, 0.039). An abnormal increase in RNFL thickness was observed in 21.65% eyes, but no association was found between the presence of CME and increased RNFL thickness. CONCLUSIONS: RP eyes may show abnormal thinning or increased thickness of RNFL measurements on testing with Fd-OCT. RNFL defects observed by OCT testing document the presence of anatomic defects in more anterior structures within the retina in a notable number of patients with RP.