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: 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.'

PURPOSE: To compare optical coherence tomography with fluorescein angiography in 11 patients (21 eyes) with central foveal damage from solar retinopathy. METHODS: Retrospective, observational case series of 11 patients with solar retinopathy. Dilated funduscopic examination was performed as well as photographic, fluorescein angiography, optical coherence tomography, and Humphrey visual field assessment. RESULTS: Significant foveal pathology was identified in each of the 21 eyes (11 patients). Visual acuity in affected eyes ranged from 20/25 to 20/200. Optical coherence tomography demonstrated foveal atrophy associated with a characteristic defect at the level of the inner and outer segment junction of the photoreceptors in all 21 affected eyes, whereas fluorescein angiography identified classic window defects in 19 eyes (10 of 11 patients). There was a modest correlation between foveal thickness and visual acuity. CONCLUSION: Fluorescein angiography did not detect lesions characteristic of solar retinopathy in all patients with a definitive history of sungazing and visual loss. Conversely, optical coherence tomography did detect significant foveal atrophy in all affected eyes and a characteristic defect at the photoreceptor-retinal pigment epithelium junction. Optical coherence tomography improves the diagnosis and assessment of the degree and nature of foveal damage in patients with solar retinopathy and may be an important tool in identifying foveal damage not detected by standard fluorescein angiography

PURPOSE: To describe fundus autofluorescence (FAF) finding in a case of cone dystrophy. METHODS: Interventional case report. RESULTS: A 23-year-old woman presented with increasing photophobia and decreasing vision in both eyes for 2 years. Fundus examination showed several drusen-like dots. FAF revealed hyper-autofluorescence in the foveola. Electroretinogram (ERG) demonstrated a pure 'cone' dystrophy. CONCLUSION: Hyper-autofluorescence in the foveola is a non-specific manifestation of photoreceptor-retinal pigment epithelium dysfunction. ERG studies are essential for accurate diagnosis

PURPOSE: To explore the incidence of complications after bilateral same-day intravitreal injections of antivascular endothelial growth factor pharmacotherapies in this retrospective interventional case series. METHODS: An electronic review of billing records was performed to identify all bilateral same-day intravitreal antivascular endothelial growth factor injections performed within a single group retina practice between January 6, 2006 and June 1, 2009. The charts were reviewed to identify the complications of endophthalmitis, intraocular inflammation, retinal tear, and retinal detachment. RESULTS: A total of 1,534 bilateral intravitreal injections (326 bevacizumab and 1,208 ranibizumab: 3,068 injections total) were performed in 367 patients. Three complications were identified. Two cases of unilateral culture-proven endophthalmitis occurred after bilateral intravitreal ranibizumab, and one case of unilateral acute intraocular inflammation occurred after bilateral intravitreal bevacizumab. In all three of these eyes, visual acuity returned to its preinjection level. No cases of retinal tear or retinal detachment were identified. The incidence of culture-proven endophthalmitis was 0.065%, and the incidence of acute intraocular inflammation was 0.033%. CONCLUSION: The complication rates after bilateral same-day intravitreal antivascular endothelial growth factor injections seem to be similar to those after unilateral injections. Severe acute intraocular inflammation can occur unilaterally after same-day bilateral injections of bevacizumab

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

PURPOSE: To evaluate vitreomacular relations in different stages of age-related macular degeneration (AMD) without the influence of genetics and environmental factors. DESIGN: Retrospective, observational case series. METHODS: This was a multicenter study consisting of 29 previously untreated subjects with active exudative (wet) AMD in one eye and active nonexudative (dry) AMD in the fellow eye who were compared with 10 previously untreated subjects with end-stage geographic atrophy in one eye and an end-stage fibrotic (disciform) scar in the fellow eye. All subjects were studied with ultrasonography to identify the presence of posterior vitreous detachment (PVD) and by optical coherence tomography to detect vitreomacular adhesion (VMA). RESULTS: The incidence of PVD in eyes with nonexudative AMD was 20 (69%) of 29, compared with 6 (21%) of 29 with active exudative AMD (P = .002). VMA was present in 11 (38%) of 29 of eyes with exudative AMD and in only 3 (10%) of 29 eyes with nonexudative AMD (P = .008). The incidence of PVD in geographic atrophy was 7 (70%) of 10, compared with 4 (40%) of 10 with disciform scar (P = .44). VMA was present in 2 (20%) of 10 eyes with disciform scars and in 0 (0%) of 10 eyes with geographic atrophy (P = .48). CONCLUSIONS: PVD may protect against exudative AMD, whereas VMA may promote exudative AMD. This phenomenon is not evident in end-stage disease because of an increased incidence of PVD and a decreased incidence of VMA in eyes with disciform scars. Genetic and environmental factors do not seem to influence these observations

OBJECTIVE: To determine whether there is an increased prevalence of systemic autoimmune diseases in both patients with white spot syndromes (WSS) and their family members. METHODS: Patients with WSS at participating institutions were asked to complete a questionnaire reporting their own medical histories as well as any autoimmune diseases among their first- and second-degree relatives. RESULTS: As of January 1, 2008, 114 questionnaires had been collected, providing medical histories of 114 patients with WSS and 1098 family members. The number of patients with WSS with self-reported systemic autoimmune diseases was 26 (23%). Of 1098 relatives, 106 (10%) had at least 1 autoimmune disease. Systemic autoimmunity was more prevalent in female relatives (13%) as compared with male relatives (6%). In addition, the prevalence of autoimmunity was significantly higher among first-degree relatives (13%) than second-degree relatives (8%). Patients who themselves had systemic autoimmune diseases showed a greater prevalence of systemic autoimmunity among their families as compared with the families of patients without systemic autoimmune diseases. CONCLUSIONS: Our data indicate that there is an increased prevalence of systemic autoimmunity in both patients with WSS and their first- and second-degree relatives. This suggests that WSS occur in families with inherited immune dysregulation that predisposes to autoimmunity

PURPOSE: To analyze the retinal structure underlying the hyperautofluorescent ring visible on fundus autofluorescence in patients with retinitis pigmentosa. METHODS: Twenty-four eyes of 13 patients with retinitis pigmentosa, aged 13 years to 67 years, were studied. The integrity of the photoreceptor cilia, also known as the inner/outer segment junction of the photoreceptors, the outer nuclear layer, and retinal pigment epithelium, was evaluated outside, across, and inside the ring with spectral-domain optical coherence tomography (OCT). RESULTS: Inside the foveal area, fundus autofluorescence did not detect abnormalities. Outside the ring, fundus autofluorescence revealed hypoautofluorescence compatible with the photoreceptor/retinal pigment epithelium degeneration. Spectral-domain OCT inside the ring, in the area of normal foveal fundus autofluorescence, revealed an intact retinal structure in all eyes and total retinal thickness values that were within normal limits. Across the ring, inner/outer segment junction disruption was observed and the outer nuclear layer was decreased in thickness in a centrifugal direction in all eyes. Outside the hyperautofluorescent ring, the inner/outer segment junction and the outer nuclear layer appeared to be absent and there were signs of retinal pigment epithelium degeneration. CONCLUSION: Disruption of the inner/outer segment junction and a decrease in outer retinal thickness were found across the central hyperautofluorescent ring seen in retinitis pigmentosa. Outer segment phagocytosis by retinal pigment epithelium is necessary for the formation of an hyperautofluorescent ring