The Spatial Profile of Macular Pigments Is Related to the Topological Characteristics of the Foveal Avascular Zone.

PURPOSE: Macular pigments are preferentially concentrated in the central fovea, an area devoid of vasculature. We hypothesized that there may be a link between the macular pigment profile and the size and structural characteristics of the foveal avascular zone (FAZ). METHODS: Two-wavelength autofluorescence method was used to quantify macular pigment optical density (MPOD) and the radius at half peak of MPOD, which was defined as the retinal eccentricity where the MPOD value was 50% of the peak value. Volumetric spectral-domain optical coherence tomography (OCT) images of the macula were obtained from 32 subjects. The equivalent radius of the FAZ was determined using data generated from OCT angiography. Generalized estimating equations were used to test the hypothesis that there are interrelationships among the central foveal thickness, peak MPOD, the radius at half peak of MPOD and the equivalent radius of the FAZ. RESULTS: The equivalent radius of the FAZ was highly correlated with the radius at half peak of MPOD (P < .001). The equivalent radius of the FAZ was a significant predictor for central foveal thickness (P < .001). The significant predictor for peak MPOD was central foveal thickness (P = .004). Eyes with larger FAZs were more likely to have a secondary peak in their MPOD spatial profile in a zone ranging from 0.5 to 1.0 degrees from the foveal center. CONCLUSIONS: The spatial distribution of macular pigment is related to the size of the FAZ, in addition to the central foveal thickness. It is possible that xanthophyll pigment accumulation in the macula serves functions, such as attenuation of shorter wavelengths of light, that would have been provided by the light-filtering characteristics of blood vessels.

Achromatopsia: a review.

PURPOSE OF REVIEW: The purposes of this article are to examine the literature published on achromatopsia and provide a comprehensive review of the clinical disease, genetic characteristics, and potential for therapy. Specifically, this article will describe recent advances in gene therapy in animal models, clinical features in human, and barriers to human translation. RECENT FINDINGS: Building on prior success with adeno-associated virus (AAV) therapy in mice models for achromatopsia with mutations in the CNGB3, CNGA3, or GNAT2 genes, multiple cone-specific promoters have recently been developed and shown success in mice and nonhuman primates. A sheep CNGA3 model has also been characterized. Two clinical trials are under way: one to better characterize humans with achromatopsia and another to study a ciliary neurotrophic factor (CNTF) implant as a treatment for patients with the CNGB3 mutation. SUMMARY: Genetic understanding and disease characterization of achromatopsia continues to evolve, as do gene therapy tools and animal models. The potential for the treatment of achromatopsia in humans with gene therapy shows great promise.

Primary transpupillary thermotherapy for choroidal melanoma in 391 cases: importance of risk factors in tumor control.

PURPOSE: To report the long-term outcome of primary transpupillary thermotherapy (TTT) for choroidal melanoma. DESIGN: Retrospective review of medical records. PARTICIPANTS: We included 391 patients with choroidal melanoma treated between 1995 and 2012 at the Oncology Service, Wills Eye Hospital, Philadelphia. METHODS: We delivered TTT with an infrared diode laser. MAIN OUTCOME MEASURES: Local tumor recurrence, Snellen visual acuity after TTT, and distant metastasis. RESULTS: Of 391 patients, 311 (80%) were treated from 1995 to 2000 and 80 (20%) from 2001 to 2012. Tumors in the 2001 to 2012 group were ultrasonographically thinner (2.2 vs. 2.7 mm), more distant from the optic disc (3.2 vs. 2.5 mm) and foveola (4.0 vs. 2.0 mm), were less often located in the macular area (14% vs. 40%), and had lower rates of acoustic hollowness on B-scan ultrasonography (63% vs. 84%), subretinal fluid (58% vs. 90%), and orange pigment (50% vs. 70%). Kaplan-Meier estimates for tumor recurrence in the 1995 to 2000 group were 29% at 5 years and 42% at 10 years, whereas estimates for tumor recurrence in the 2001-2012 group were 11% at 5 years and 15% at 10 years. Of 108 recurrent tumors 20 were controlled with additional TTT and 62 required plaque radiation (n=60) or proton beam radiation (n=2), with enucleation necessary in 26 patients. Tumor recurrence correlated with the number of high-risk tumor features: 10-year recurrence was 18% in those with 1 or 2 risk factors, 35% in those with 3 to 5 factors, and 55% in those with 6 or 7 factors. On multivariate analysis, features predictive of tumor recurrence were presence of symptoms (P<0.001), shorter distance between the tumor and the optic disc (P=0.026), subretinal fluid (P=0.035), thickness of residual tumor scar (P<0.001), and elevation of residual tumor scar (P<0.001). The only factor predictive of extraocular tumor extension was intraocular tumor recurrence after TTT treated with additional TTT (P=0.007). Presence of orange pigment before TTT (P=0.019), tumor recurrence (P=0.002), and extraocular tumor extension (P=0.017) were predictive of distant metastasis. CONCLUSION: This study shows a direct correlation between a larger number of high-risk tumor features and higher rates of tumor recurrence after primary TTT of (small) choroidal melanoma. We advise that, when possible, small choroidal melanomas with multiple risk factors be treated with methods other than TTT.

Giant leiomyoma of the ciliary body.

Leiomyoma is a rare intraocular tumor that arises from uveal smooth muscle. Herein, we report a large leiomyoma that occupied nearly 50% of the globe, closely resembling melanoma. A 40-year-old female presented with a 17 × 15 × 11 mm amelanotic ciliochoroidal mass causing visual defect in her right eye (OD). Based on transillumination features of tumor shadow and ultrasonographic features of acoustically solid mass, there was low clinical suspicion for leiomyoma or schwannoma, and a preliminary diagnosis of ciliochoroidal melanoma was rendered. Following enucleation, histopathology revealed a paucicellular tumor comprised of spindle cells, with positive immunostaining for smooth muscle actin and negative stains for melanoma markers (S-100 protein, HMB45, and MITF-2). These features were consistent with ciliochoroidal leiomyoma. Benign uveal leiomyoma can achieve an unusually large size and block light transmission on transillumination, features that simulate malignant melanoma.