Sandeep Randhawa

Optical Coherence Tomographic Angiography in Acute Macular Neuroretinopathy.

Importance Acute macular neuroretinopathy (AMN) is a rare, yet increasingly recognized, entity identified predominantly in young healthy females with acute onset of paracentral scotomas. The exact pathophysiology is unknown but an underlying vascular process is suspected. This study used optical coherence tomographic angiography (OCTA) to assess for any evidence of vascular flow abnormality in the retina or choroid in this elusive disease. Observations Three eyes from 2 young female patients with classic features of AMN are presented. Multimodal imaging testing, including near-infrared reflectance, spectral-domain OCT, and OCTA (Carl Zeiss Meditec), were performed. Near-infrared reflectance identified typical hyporeflective tear-drop parafoveal lesions, which corresponded to OCTA flow deficits at the level of the choriocapillaris. Conclusions and Relevance Recognizing that these findings are based only on 3 eyes from 2 patients, lesions in AMN may result from a vascular insult in the choriocapillaris. The evaluation of OCTA was with the knowledge of the AMN diagnosis, which may have biased the interpretation.

RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY

Purpose: To report a novel presentation of dyskeratosis congenita masquerading as familial exudative vitreoretinopathy. Methods: Observational case series involving single family and literature review. Results: A brother and sister were diagnosed with familial exudative vitreoretinopathy at ages 4 and 2, respectively. Both patients were managed with laser photocoagulation. Eight years after the initial presentation, both siblings developed pancytopenia secondary to bone marrow failure. Laboratory work-up revealed severely shortened telomere length in both patients, and genetic testing revealed a missense mutation in the gene that encodes the reverse transcriptase component of telomerase, confirming the diagnosis of dyskeratosis congenita. The father of both children was a carrier of the same mutation, who exhibited marked retinal vascular tortuosity of the second-order vessels. Conclusion: Dyskeratosis congenita is a severe multisystem disorder, which should be considered in cases of pediatric exudative retinopathies with concurrent signs and/or symptoms of bone marrow failure.

Cytomegalovirus retinitis in dyskeratosis congenita.

PURPOSE The purpose of this study was to report a case of cytomegalovirus retinitis in the setting of dyskeratosis congenita. METHODS Case report and literature review. RESULTS A 23-year-old woman who had peripheral occlusive retinal vasculopathy and neovascularization as a result of pancytopenia caused by bone marrow failure also developed cytomegalovirus retinitis. She had been diagnosed with dyskeratosis congenita, which had caused the bone marrow failure and pancytopenia. CONCLUSION Dyskeratosis congenita is a multisystem disorder that causes bone marrow failure. It can have retinal manifestations in the form of peripheral proliferative retinopathy and retinitis.

Peripapillary pachychoroid syndrome

Purpose: To describe the features of peripapillary pachychoroid syndrome (PPS), a novel pachychoroid disease spectrum (PDS) entity. Methods: Medical records of 31 eyes (16 patients) with choroidal thickening associated with intraretinal and/or subretinal fluid in the nasal macula extending from the disk were reviewed (patients with PPS). Choroidal thickness was compared with 2 age-matched cohorts: typical PDS (17 eyes with central serous chorioretinopathy or pachychoroid neovasculopathy) and 19 normal eyes. Results: The patients with PPS were 81% men aged 71 ± 7 years. Peripapillary pachychoroid syndrome eyes displayed thicker nasal versus temporal macular choroids, unlike PDS eyes with thicker temporal macular choroids (P < 0.0001). Peripapillary intraretinal and/or subretinal fluid was often overlying dilated Haller layer vessels (pachyvessels). Fundus autofluorescence and fluorescein angiography illustrated peripapillary pigmentary mottling without focal leakage. Most PPS eyes (70%) exhibited other PDS findings including serous pigment epithelial detachment or gravitational tracks. Indocyanine green angiography illustrated dilated peripapillary pachyvessels and choroidal hyperpermeability. The disk was usually crowded, with edema noted in 4/31 (13%) eyes and mild late fluorescein disk leakage identified in half of the cases. Choroidal folds (77%), short axial lengths (39% less than 23 mm), and hyperopia (86%) were common. Conclusion: Peripapillary pachychoroid syndrome is a distinct PDS variant, in which peripapillary choroidal thickening is associated with nasal macular intraretinal and/or subretinal fluid and occasional disk edema. Recognition of PPS is important to distinguish it from disorders with overlapping features such as posterior uveitis and neuro-ophthalmologic conditions.

Optical Coherence Tomography Angiography of Paracentral Acute Middle Maculopathy Associated With Primary Antiphospholipid Syndrome.

The authors present the first case of paracentral acute middle maculopathy as a manifestation of primary antiphospholipid syndrome (APS) with multimodal imaging, including optical coherence tomography angiography (OCTA). The association between APS and ophthalmic sequela is well-known. Recent advances in multimodal imaging, specifically OCTA, allow for better characterization of the mechanism and extent by which retinal arterial thrombosis can cause vision loss. Using advanced imaging modalities, the authors provide a comprehensive assessment of retinal ischemia, which showed not only localized capillary occlusion, but also ischemia of the deep retinal capillary plexus. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:175-178.].

Free-Floating Pigmented Vitreous Cyst: Optical Coherence Tomography Findings.

Senior Secretary for Education, and Association of University Professors in Ophthalmology Member. S.F.: Consultant and Executive Vice President of AUPO. D.P.: Chief Executive Officer of the AAO. S.P.: Stock/stock options with DigiSight Technologies. Author Contributions: Conception and design: none Data collection: none Analysis and interpretation: Oetting, Alfonso, Arnold, Cantor, Carter, Cruz, Feldon, Mondino, Parke, Pershing, Uhler, Volpe Obtained funding: None Overall responsibility: Oetting, Alfonso, Arnold, Cantor, Carter, Cruz, Feldon, Mondino, Parke, Pershing, Uhler, Volpe

Retinal vascular tortuosity in DiGeorge syndrome complicated by solar retinopathy.

PURPOSE To report a case of vascular tortuosity associated with DiGeorge syndrome that was complicated by solar retinopathy. METHODS Case report and literature review. RESULTS A 56-year-old woman with DiGeorge syndrome with secondary schizophrenia and developmental delay presented with decreased vision that was worse in her left eye. Ocular examination revealed bilateral retinal vascular tortuosity involving both the arteries and veins. Both eyes had an abnormal foveal light reflex with a central yellowish hue, which was more pronounced in the left eye. Optical coherence tomography showed disruption of the photoreceptor inner segment-outer segment junction and retinal pigment epithelium centrally, which was also more prominent in the left eye. CONCLUSION DiGeorge syndrome is associated with retinal vascular tortuosity in a large percentage of patients. The patients decreased vision is likely caused by solar retinopathy (prolonged sun gazing as a result of the secondary schizophrenia and developmental delay).

Autofluorescence and spectral domain Oct findings in Alport syndrome.

PURPOSE The purpose of this study was to report novel autofluorescence and spectral domain optic coherence tomography findings in a case of Alport syndrome. METHODS Case report and literature review. RESULTS A 30-year-old woman with a history of Alport syndrome presented with a full-thickness macular hole in her right eye and evidence of vitreofoveal traction in her asymptomatic left eye. Both eyes had temporal macular thinning. She had anterior lenticonus and perimacular flecks characteristic of Alport syndrome. In addition, fundus autofluorescence revealed an interesting pattern of splotchy hypoautofluorescence in the periphery (in the absence of any peripheral retinopathy on examination), which has not been described previously. CONCLUSION Macular hole in Alport syndrome results from basement membrane weakness and an abnormal vitreoretinal interface. Although this makes surgery in these cases challenging, careful separation of the posterior hyaloid and internal limiting membrane peeling with fluid gas exchange can lead to successful closure. Alport syndrome can also cause abnormalities in the retinal pigment epithelium/Bruch membrane leading to abnormal autofluorescence.

Hemorrhagic Ischemic Retinal Vasculitis and Alopecia Areata as a Manifestation of HLA-B27

A 12-year-old Indian boy presented with acute and severe vision loss in his right eye. He was being treated for scalp alopecia areata and rashes behind the ears and above the brow. The eye examination revealed unilateral hemorrhagic retinal vasculitis. The lab work was normal except for a positive HLA-B27 result. The patient was treated with intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA) and systemic immunosuppression. The retinal vasculitis improved with treatment, but visual acuity only mildly improved. The alopecia areata also improved with systemic immunosuppression. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:60-63.].

Anatomic and Visual Outcomes Following Surgical Repair of Retinoschisis-Related Retinal Detachments

Purpose: The purpose of this article is to report the characteristics of patients with retinoschisis-related retinal detachments and to summarize their clinical outcomes after surgical repair. Methods: A single-center interventional case series of 37 eyes from 35 patients who underwent surgery to repair a retinoschisis-related retinal detachment between January 1, 2009 and January 1, 2017 was conducted. Results: The mean ± SD age at the time of the first retinal detachment repair was 63 ± 13 years. As the initial surgery, scleral buckle was performed in 14 eyes, scleral buckle + vitrectomy in 14 eyes, and vitrectomy in 9 eyes. The single-operation success rate for the entire cohort was 65% (24/37), and the final anatomic success rate was 97% (36/37). Among eyes requiring more than 1 surgery, 46% (6/13) developed proliferative vitreoretinopathy. Best-corrected visual acuity improved or remained stable after 1 year of follow-up in the majority (n = 27, 73%) of eyes. The mean (SD) number of surgeries required to achieve the final anatomic and visual result was 1.8 (1.2) for all eyes (range, 1-5 surgeries). Conclusion: The single-surgery success rate for retinoschisis-related retinal detachments was lower than that reported for typical rhegmatogenous retinal detachments, and the incidence of proliferative vitreoretinopathy was higher. When counseling patients with retinoschisis-related retinal detachments, it is important to caution them that they may require more than 1 surgery to achieve anatomic success.