Faculty Bibliography

To describe novel findings on fundus autofluorescence (FAF) and high-resolution optical coherence tomography (OCT) in a 27-year-old woman with the Senior-Loken syndrome (SLSN) emphasizing the photoreceptors' cilia appearance in the macula. The patient had renal transplantation early in life and poor visual acuity due to advanced autosomal recessive retinitis pigmentosa. FAF showed diffuse spots of decreased autofluorescence in the mid-periphery and a perifoveal ring of increased autofluorescence suggesting a bull's eye maculopathy. High-resolution OCT revealed a barely detectable inner-outer photoreceptor segment junction in the central macula corresponding to the area inside of the ring of increased autofluorescence, suggesting initial ciliary junction disorganization before photoreceptors death. Non-invasive technologies can monitor central photoreceptors cilliary anatomy enabling early detection of cell disorganization in diseases involving ciliopathy such as the Senior-Loken syndrome are concluded.

PURPOSE:: The purpose of this study was to report long-term results of intravitreal antivascular endothelial growth factor therapy in the management of choroidal neovascularization in patients with angioid streaks associated with pseudoxanthoma elasticum. METHODS:: A consecutive series of patients with pseudoxanthoma elasticum and choroidal neovascularization were managed with intravitreal antivascular endothelial growth factor injections (bevacizumab 1.25 mg/0.05 mL or ranibizumab 0.5 mg/0.05 mL). The main outcome measures were visual acuity and greatest lesion height as measured by optical coherence tomography. RESULTS:: Nine eyes of nine consecutive patients received intravitreal antivascular endothelial growth factor therapy. During the mean follow-up period of 28.6 months, eyes received an average of 8.4 injections. At baseline, the mean visual acuity was 20/368 (median, 20/60) and improved to 20/281 (median, 20/40) at the last visit (P = 0.14). Visual acuity either improved or stabilized in all 9 eyes (100%). Serial optical coherence tomography measurements showed a mean of 353 mum at baseline and decreased to 146 mum at the last visit (P = 0.005). No complications were noted. CONCLUSION:: These long-term results support the use of intravitreal antivascular endothelial growth factor therapy for the management of choroidal neovascularization in patients with pseudoxanthoma elasticum. Continued experience with intravitreal bevacizumab or ranibizumab in this population will help establish long-term efficacy and better define optimal dosing strategies

More than a quarter century has passed since the original description of polypoidal choroidal vasculopathy (PCV) in 1982 as a peculiar hemorrhagic disorder involving the macula characterized by recurrent subretinal pigment epithelial bleeding. In the ensuing years, numerous reports have described the expanded clinical spectrum of this entity. PCV is the principal vascular composition of patients of pigmented races experiencing neovascular maculopathies, particularly African Americans and Asians. This form of neovascularization is now known to occur in white patients with or without concomitant drusen, and the site of involvement has extended from the peripapillary area to the peripheral fundus. Indocyanine green angiography has made detection of these abnormal vascular changes more reliable and definitive. More precise diagnosis has also led to a better understanding of specific clinical features that distinguish PCV from more typical proliferations of abnormal choroidal vessels. We review the nature of PCV, including its genetic basis, demographic features, histopathology, clinical manifestations, natural course, response to treatments, and the histopathological and genetic bases. We emphasize multimodal ophthalmic imaging of these vessels, in particular fluorescein and indocyanine green angiography and optical coherence tomography

PURPOSE: To report the long-term follow-up of a case of enhanced S-cone syndrome (ESCS). METHODS: Retrospective chart review. RESULTS: The patient was misdiagnosed with atypical retinitis pigmentosa at 17 years of age. Twenty-seven years of follow-up showed slow deterioration but relative preservation of vision. The most striking clinical feature was the formation of a ring of heavy round pigment clumping around the vascular arcades. Electroretinogram was reported as extinguished in advanced stages of the condition. Genetic testing revealed the most common mutation of the NR2E3 gene reported in the Goldmann-Favre syndrome/ESCS entity. CONCLUSION: Visual acuity can be relatively preserved over the course of ESCS. In advanced stages, genetic testing can be a valuable diagnostic tool.

PURPOSE: To report a case of bullous retinal detachment complicated by peripheral retinal ischemia and neovascularization in a patient with chronic central serous chorioretinopathy (CSC). RESULTS: Focal laser photocoagulation to the active retinal pigment epithelial leaks in the posterior pole resulted in resolution of the bullous detachment and regression of the retinal neovascularization. CONCLUSIONS: Patients with chronic CSC and a large, dependent serous detachment with peripheral retinal ischemia and neovascularization may be managed by focal treatment to active pigment epithelial leaks alone. This could spare patients of the adverse effects associated with widespread laser treatment and reduce the risk of visual loss due to vitreous hemorrhage and/or more severe complications resulting from progressive retinal ischemia.

PURPOSE: To report additional data on a pattern of the fundus described in 2002 as unilateral, idiopathic leopard-spot lesion of the retinal pigment epithelium (RPE). DESIGN: Observational, consecutive case series. METHODS: The fundus characteristics, natural history, and prognosis of 9 patients are described after examining them by means of diagnostic adjuncts not previously available, including optical coherence tomography (OCT) and fundus autofluorescence (FAF) photographs. RESULTS: Nine patients, 6 male and 3 female, aged 14 to 42, presented with a large area, usually contiguous to the optic nerve, characterized by a distinct scalloped margin of reticular RPE hyperplasia, mid-lesion lacunae of RPE hyperplasia, and central thinning and atrophy of the RPE. FAF of the lesion showed a pattern that is inverted relative to fluorescein hyperfluorescence with a distinctive dark reticular pattern. OCT revealed fibroglial changes of the above retina in some cases. Two cases that have been documented up to 10 years showed enlargement of the affected area, one slightly and one significantly. Associated lesions included retinal folds (4 cases), retinal vascular tortuosity (4 cases), and progressive localized hyperplasia of the RPE (1 case). Related complications included choroidal neovascularization (2 cases) and localized retinal detachment (1 case). CONCLUSION: The inverted scalloped patterns of hyperfluorescence and hypofluorescence on fluorescein angiography and FAF with the newly described OCT features may help in the diagnosis of this rare condition of the RPE. Vision-threatening complications may be observed. Based on the present updated review of this condition, we suggest changing the name of this entity to 'unilateral RPE dysgenesis.'

Variations in the morphology of the aneurysm and its serosanguineous complications serve to make a retinal arteriolar macroaneurysm, a common masquerading entity, particularly if it is accompanied by another un-associated retinal vascular abnormality. The authors present a patient who had an unusually large retinal arteriolar macroaneurysm in conjunction with a congenital retinal macrovessel

OBJECTIVE: To describe the phenotypes of 5 patients with NR2E3 mutations. METHODS: Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared. RESULTS: Three different mutations in NR2E3 were identified: R311Q and 2 novel mutations--missense change Q350R and an in-frame deletion of phenylalanine at position 71 (delF71) in exon 2. Three patients who were homozygous for R311Q had posterior subcapsular cataracts and a concentric ring of round pigment clumps. Electroretinograms were extinguished. A fourth patient, a 24-year-old man who was heterozygotic for R311Q and Q350R, had Goldmann-Favre syndrome. A fifth patient, a 10-year-old boy with heterozygotic mutations R311Q and delF71, had diminished foveal reflexes and subtle pigmentary changes, perhaps a forme fruste of Goldmann-Favre syndrome. Both of these patients had an identical spectral electroretinographic pattern characteristic of enhanced S-cone syndrome. CONCLUSIONS: Molecular genetic testing is essential for establishing the correct diagnosis in patients with NR2E3 mutations because of the variable phenotype associated with these degenerations. Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome

OBJECTIVE: To describe cases of acute zonal occult outer retinopathy (AZOOR) in patients previously diagnosed as having multiple evanescent white dot syndrome (MEWDS). METHODS: In a retrospective case series, we studied fundus photographs, fundus autofluorescence images, optical coherence tomographic scans, fluorescein and indocyanine green angiograms, visual fields, and results of electroretinography. RESULTS: Three patients diagnosed as having MEWDS developed clinical, angiographic, autofluorescence, visual field, and/or electrophysiologic evidence of AZOOR. Spectral domain optical coherence tomographic findings disclosed attenuation of the photoreceptor inner segment-outer segment junction in areas of AZOOR involvement. In 1 patient, hyperautofluorescence on fundus autofluorescence images during the MEWDS episode coincided with the area of involvement of AZOOR. CONCLUSIONS: Development of AZOOR may occur in patients with MEWDS, suggesting that the conditions may share a common genetic susceptibility and/or pathogenetic factor. Although the typical visual prognosis after MEWDS is excellent, subsequent diagnosis of AZOOR may portend a worse outcome