POLYPOIDAL CHOROIDAL VASCULOPATHY ASSOCIATED WITH CENTRAL SEROUS CHORIORETINOPATHY: Pachychoroid Spectrum of Diseases.

PURPOSE: To study multimodal imaging features of polypoidal choroidal vasculopathy (PCV) associated with central serous chorioretinopathy (CSC) in the same eye. METHODS: A retrospective observational study of cases of suspected PCV which underwent indocyanine green angiography, fundus fluorescein angiography and optical coherence tomography was done, to look for simultaneous typical CSC-like active leak in the same eye. The relevant history, best-corrected visual acuity, optical coherence tomography, fundus fluorescein angiography, and indocyanine green angiography findings were analyzed. RESULTS: From 226 patients reviewed, 195 patients had PCV from which 6 eyes (3.07%) with features of PCV associated with typical CSC-like active leak in the same eye were identified; 3 men and 3 women with a mean age of 62.6 years. Optical coherence tomography showed notched pigment epithelial detachment in two and irregular peaked pigment epithelial detachment in four cases with subretinal fluid and/or subretinal haemorrhage over a thick choroid with dilated outer choroidal vessels. Fundus fluorescein angiography showed stippled hyperfluorescence at polyp area and a separate typical CSC-like active leak-Inkblot in three and Smokestack in three cases. On indocyanine green angiography, multiple polyps were noted with choroidal hyperpermeability in late phase at the site of CSC leak. CONCLUSION: The coexistence of PCV with typical CSC-like active leaks and a thick choroid in the same eye simultaneously provides strong evidence that these diseases have an association and support the hypothesis that these conditions may originate from predisposed thick choroid.

A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.

PURPOSE: Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also called PNR) gene. The present study proposed to understand the clinical and genetic characteristics of the family of a patient with an ocular phenotype consistent with Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina (VPTRs). METHODS: Twelve family members of the proband from three generations underwent complete ophthalmic examination, including best-corrected visual acuity with Snellen optotypes, tonometry, biomicroscopic examination, indirect ophthalmoscopy after pupillary dilatation, computerized perimetry, optical coherence tomography, fundus photography, intravenous fluorescein angiography, and electroretinography (ERG). All the study subjects underwent genetic analysis of the entire coding region of the NR2E3 gene with the bidirectional DNA sequencing approach. Hundred healthy individuals were screened for the variant. RESULTS: The phenotype of the proband had features of GFS with VPTRs. The tumors showed complete resolution with cryotherapy and transpupillary thermotherapy (TTT). Sequencing of the entire coding region of the NR2E3 gene in the proband revealed a novel homozygous c.1117 A>G variant that led to the amino acid change from aspartic acid to glycine at position 406 (p.D406G). This change was present in the homozygous state in affected family members and in the heterozygous state in unaffected family members, and was undetectable in the control subjects. The identified novel p.D406G homozygous mutation was at an evolutionarily highly conserved region and may possibly affect the protein function (Sorting Intolerant From Tolerant [SIFT] score = 0.00). CONCLUSIONS: Patients with GFS may present with retinal VPTRs that respond to therapy with cryotherapy and TTT. Molecular genetic studies helped to identify a novel p.D406G mutation in the affected members, which will aid in confirming the diagnosis, for genetic counseling of family members and potentially provide some form of therapy for the affected patients.

Multimodal imaging of epiretinal neovascularization associated with type 3 macular neovascularization.

PURPOSE: To report a case of type 3 macular neovascularization presenting with an epiretinal neovascularization. METHODS: Case report. RESULTS: A 65-year-old gentleman presented with complaints of reduced vision in the left eye (LE) having a best corrected visual acuity (BCVA) of 20/200. Based on fundus examination and multimodal imaging findings he was diagnosed with type 3 macular neovascularization (MNV). An additional unusual finding was the presence of an epiretinal membrane (ERM) and epiretinal neovascularization (ERN), with the latter finding being confirmed on optical coherence tomography angiography (OCTA). He underwent three doses of intravitreal ranibizumab injection following which there was reduction in the epiretinal vascularity. CONCLUSIONS: Multimodal imaging of this case highlights the presence of epiretinal neovascularization associated with type 3 MNV, which has not been reported previously.

Natural course of non-center-involving diabetic macular edema progression in patients under initial observation.

PURPOSE: We aim to report the natural course of non-center involving diabetic macular edema (NCIDME) progression to center involving diabetic macular edema (CIDME) and associated risk factors. METHODS: This is a multicenter retrospective comparative study. Data was collected from electronic medical records from 8 centers in India covering. We included patients with type 2 diabetes above 18 years of age with treatment-naïve NCIDME on OCT and best-corrected visual acuity at baseline of 6/12 or better who were under observation for NCIDME and had 2 years follow-up data. RESULTS: Out of 72 patients with NCIDME, 26.38% patients progressed to CI DME by 2 years, and the visit wise proportion was 11.11% at 6 months, 7% at 1st year and 8.3% at 2 years. The change in CST was statistically significant at 2 years in patients who developed CIDME, the mean difference was 137.73 ± 48.56 microns p = 0.045. Duration of diabetes mellitus > 10 years was the only risk factor for conversion to CIDME. CONCLUSION: A quarter of eyes with NCIDME developed CIDME and 15% progressed from NPDR to PDR by 2 years, highlighting the disease burden in these patients with NCIDME.

POLYPOIDAL CHOROIDAL VASCULOPATHY ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA.

PURPOSE: To report a case of polypoidal choroidal vasculopathy associated with sector retinitis pigmentosa. METHODS: Case report. RESULTS: A 63-years-old woman presented with complaints of having painless progressive reduction of vision in the left eye (LE) for the past 6 months. On examination, her best-corrected visual acuity was 20/20 in the right eye and 20/125 in the LE. Based on fundus examination and multimodal imaging findings, both eyes were diagnosed to have sector retinitis pigmentosa, and an associated active extramacular polypoidal choroidal vasculopathy was seen in the LE. Spectral-domain optical coherence tomography also revealed choroidal thinning in both eyes. Patient underwent bevacizumab injection in the LE. At 1-month posttreatment, her best-corrected visual acuity remained stable in the LE, and spectral-domain optical coherence tomography showed reduction in subretinal fluid and size of the polypoidal lesion. CONCLUSION: Polypoidal choroidal vasculopathy, a pachychoroid disease, could occur in association with retinitis pigmentosa, in the setting of thin choroids, and multimodal imaging is important to differentiate it from Type-1 macular neovascularization.

Co occurrance of Macular Telangiectasia type 2 with hemorrhagic polypoidal choroidal vasculopathy and response to anti-vascular endothelial growth factor.

We report the case of a 57-year-old female patient who presented with defective vision in the right eye due to large hemorrhagic pigment epithelial detachment with subretinal hemorrhage near the arcades with scattered retinal pigment epithelium (RPE) alteration at the macula and minimal vitreous hemorrhage inferiorly. The left eye showed right angle perifoveal dipping venule with RPE alteration temporal to the fovea, intraretinal RPE stellate plaque at the macula area. Multimodal imaging features including color fundus photo, red-free photograph, optical coherence tomography (OCT), enhanced depth imaging OCT, fundus fluorescein angiography, indocyanine green angiography, and OCT angiography were studied along with treatment response. One eye showed features of macular telangiectasia Type 2 (MacTel 2) with polypoidal choroidal vasculopathy (PCV) (hemorrhagic type) and the other eye showed features of MacTel 2 with pachychoroid pigment epitheliopathy. This report highlights the hitherto undescribed co-occurrence of MacTel 2 with bilateral pachychoroid and with unilateral hemorrhagic PCV in one eye and its favorable outcome with anti-vascular endothelial growth factor therapy.

PACHYCHOROID DISEASE ASSOCIATED WITH GEOGRAPHIC ATROPHY AND SUBRETINAL DRUSENOID DEPOSITS.

PURPOSE: To report an atypical case of pachychoroid spectrum disease associated with subretinal drusenoid deposits and geographic atrophy. METHODS: Case report. RESULTS: A 67-year-old woman presented for a routine examination. Her best-corrected visual acuity was 20/20 in both eyes. Based on fundus examination and multimodal imaging findings, the presence of subretinal drusenoid deposits and geographic atrophy was seen in the right eye, which was associated with pachychoroid. The left eye revealed two active polypoidal lesions suggestive of polypoidal choroidal vasculopathy with subretinal drusenoid deposits, geographic atrophy, and a thick choroid with dilated outer choroidal vessels. She underwent an intravitreal injection of ranibizumab followed by focal laser to the polypoidal lesion in the left eye. At 3-month posttreatment, her best-corrected visual acuity was maintained at 20/20 in the left eye, with a good anatomical outcome. CONCLUSION: This case highlights a previously unreported unique association of a pachychoroid disease spectrum with geographic atrophy and with subretinal drusenoid deposits.

Full thickness macular hole with subfoveal pigment epithelial detachment in chronic central serous chorioretinopathy: A therapeutic challenge.

We describe the diagnostic and therapeutic strategies employed in the management of a patient with subfoveal pigment epithelial detachments (PEDs) combined with full-thickness macular hole (FTMH) and discuss the possible pathophysiology of these diseases occurring concurrently. A 38-year-old patient with a history of central serous chorioretinopathy (CSC) presented with FTMH overlying a large subfoveal serous PED. Multimodal imaging confirmed the same and intravitreal anti-vascular endothelial growth factor (VEGF) injections and eplerenone failed to resolve the PED. Spontaneous resolution of the large PED was observed later and pars plana vitrectomy with internal limiting membrane peeling closed the macular hole successfully. However, the PED with fibrinous CSC recurred postoperatively and low fluence photodynamic therapy (PDT) was done to tackle the same. At 10 months' follow-up, the final vision was 6/9, the macular hole remained closed, and the PED had not recurred. Macular hole formation may be the result of choroidal hyperpermeability and leakage in the backdrop of CSC which gives rise to an exudative component causing mechanical stretching and disruption of the overlying sensory retina. Spontaneous uncomplicated resolution of large subfoveal PED in CSCR is rare. This case was managed with a combination of intravitreal anti-VEGF injections, surgery, and PDT. The therapeutic challenge here was the timing of surgery.

Multimodal imaging of Unilateral Idiopathic Macular Telangiectasia Type 2 - A five-year study.

PURPOSE: To report a rare presentation of unilateral macular telangiectasia type 2 (Mac-Tel 2) followed up over 5 years. METHODS: Case report. RESULTS: A 58-year-old gentleman presented to us with complaints of painless progressive reduction of vision in the right eye for the past two years. He had no systemic illnesses. On examination his best corrected visual acuity was 20/40 in the right eye and 20/20 in the left eye. Fundus examination in the right eye revealed loss of foveal reflex along with mild temporal greying of the fovea and the left eye was within normal limits. Both eyes showed the presence of peripapillary myelinated nerve fibres. Multimodal imaging findings included spectral domain optical coherence tomography (SD-OCT), optical coherence tomography angiography (OCTA), fundus autofluorescence and fundus fluorescein angiogram which revealed findings suggestive of exudative preproliferative variant of macular telangiectasia type 2 (Mac-Tel 2) in the right eye whereas the left eye was within normal limits. After a follow up of five years SD-OCT and OCTA revealed no striking differences in both eyes, with no evidence of the disease in his left eye. CONCLUSION: This reports highlights a rare advanced unilateral presentation of Mac-Tel 2 with no evidence of even early signs of the disease in the fellow eye, over a long term follow-up.

Photodynamic therapy for peripapillary pachychoroid syndrome-a case report.

A 76-year-old man presented with reduced visual acuity in both eyes, more severe in the right eye. His previous medical history included anti-vascular endothelial growth factor treatment, with multiple intravitreal injections in both eyes, and repeated focal laser in the left eye. His best-corrected visual acuity was 20/200 in the right eye and 20/40 in the left eye. Based on fundus examination and multimodal imaging, the patient was diagnosed with pachychoroid disease with peripapillary pachychoroid syndrome in the right eye and nasal macular scarring with late cystoid degeneration in the left eye. He underwent low-fluence photodynamic therapy in both eyes. At 6 months' follow-up, best-corrected visual acuity improved to 20/120 in the right eye and was maintained at 20/40 in the left eye, with good anatomical outcome.

ATYPICAL CENTRAL SEROUS CHORIORETINOPATHY WITH CHOROIDAL DETACHMENT: A CASE REPORT.

PURPOSE: We describe long-term follow-up of a patient with atypical chronic central serous chorioretinopathy with inferior bullous retinal detachment and 360° choroidal detachment, findings on multimodal imaging, differential diagnoses, and treatment. METHODS: Case report. RESULTS: A 66-year-old male patient, known case of bilateral chronic central serous chorioretinopathy on follow-up, presented to us with sudden painless worsening of vision in the right eye. The fundus examination, optical coherence tomography, and fundus fluorescein angiography showed an atypical chronic central serous chorioretinopathy with inferior bullous retinal detachment and peripheral choroidal detachment. The patient underwent half-fluence photodynamic therapy in the right eye. At 3 months post-photodynamic therapy, there was resolution of choroidal detachment and minimal subretinal fluid was persisting in the inferior periphery, with improvement in visual acuity. CONCLUSION: Posterior choroidal loculation of fluid is a described entity in central serous chorioretinopathy. The possible explanations for anterior choroidal loculation of fluid in this case are: either a fresh excessive leakage of fluid from the posterior choroid and that fluid may have traversed to the peripheral choroid, or diffuse choroidal leakage extending up to the equatorial region, which resulted in peripheral choroidal thickening and suprachoroidal fluid accumulation.

Intraretinal and subretinal fluid in exudative nonproliferative macular telangiectasia type 2.

A 62-year-old man presented with complaints of decreased vision in BE. His best-corrected visual acuity (BCVA) was 6/12 in both eyes (BE). Based on his fundus examination and imaging findings, he was diagnosed with BE Macular Telangiectasia type 2 (MacTel 2) and was advised of regular follow-up. Over the course of follow-up, he developed further reduction in vision in the right eye (RE) to 6/24. Spectral-domain optical coherence tomography (SD-OCT) showed the presence of a subfoveal detachment (SFD) with intraretinal cystoid edema. He was diagnosed to have an exudative variant of preproliferative MacTel 2 and underwent three intravitreal injections of bevacizumab in the RE following which there was an improvement in BCVA to 6/12 along with the complete resolution of SFD and IRF on SD-OCT. This report describes a rare case of exudative nonproliferative macular telangiectasia type 2 presenting with the presence of intraretinal fluid.

An extended phenotype of RP1L1 maculopathy - case report.

BACKGROUND: To report the ophthalmological findings of a new phenotypical variant of RP1L1 maculopathy in an Indian patient with a homozygous variant in the RP1L1 gene. MATERIALS AND METHODS: A 39-year-old male presented with complaints of disturbance in the central field of vision in both eyes (BE) for a duration of 6 months. He underwent ophthalmic examinations and diagnostic imaging. A complete retinal degeneration panel consisting of 228 genes was evaluated for pathologic variations using next-generation sequencing (NGS), which showed a variant in the RP1L1 gene. RESULTS: On fundus examination, he was found to have ill-defined foveal mottling in BE. Spectral domain optical coherence tomography (SD-OCT) showed sub-foveal hyper-reflective deposits and outer retinal layer disruption. A provisional diagnosis of the atypical variant of adult-onset foveomacular vitelliform dystrophy (AOFVD) was made on the basis of clinical, OCT, Fundus autofluorescence (FAF) and electrophysiological features. Genetic assessment of the proband revealed the presence of a homozygous base pair deletion in exon 4 of RP1L1 gene (chr8:g.10468194_10468195del), which results in frameshift and premature truncation of the protein 24 amino acids downstream to codon 1138 (p.Lys1138SerfsTer24). This variant was confirmed in the proband's parents by Sanger sequencing. The diagnosis was revised to RP1L1 maculopathy, as the RP1L1 gene variant is most commonly associated with this entity. CONCLUSION: This report presents the multimodal imaging of a previously unreported phenotype of RP1L1 maculopathy associated with a genetic variant of RP1L1 gene, thereby expanding the spectrum associated with RP1L1 maculopathy.

Real world outcomes of sutureless and glueless sclerally fixated intraocular lens implantation.

PURPOSE: To report the outcomes of sutureless intrascleral fixation of a 3-piece intraocular lens in the ciliary sulcus, in a large cohort of patients with aphakia of various aetiology METHODS: Retrospective, non-comparative, single centre interventional study of 250 aphakic eyes of various causes, which underwent sutureless and glueless intrascleral fixation of 3-piece intraocular lens (IOL). All patients were required to have at least 3 months of follow up post procedure to be included in the study. Anatomical and functional outcomes obtained were statistically analysed for significance. RESULTS: A total of 250 eyes of 246 patients were included in the study population. The average age was 56.5 years ± 16.4 (range 6-86 years). The mean best-corrected visual acuity (BCVA) significantly improved from 0.74 ± 0.6 logMAR (approx. Snellen equivalent 20/110) to 0.48 ± 0.36 logMAR (approx. Snellen equivalent 20/60), (p < 0.001) following surgery. Early postoperative complication (<2 weeks) included hypotony (n = 10, 4%), ocular hypertension (n = 38,15.2%) and vitreous haemorrhage (n = 50, 20%). Late complications included retinal detachment (n = 14, 5.6%%), cystoid macular oedema (n = 24, 9.6%), scleral erosion (n = 1, 0.4%), haptic extrusion to subconjunctival space (n = 3, 1.2%) and IOL subluxation or dislocation (n = 5, 2%) CONCLUSION: This cost-effective and easier technique of sutureless scleral fixated 3-piece IOL implantation provided good visual acuity outcomes in a large cohort of patients and was well tolerated.

Multimodal imaging including optical coherence tomography angiography of benign familial fleck retina.

A 44-year-old woman presented with complaints of pain in the right eye (RE). Fundus examination revealed disc edema in the RE along with retinal flecks sparing the macula in both eyes (BE). Fundus autofluorescence demonstrated a symmetrical pattern of white flecks in BE. Spectral-domain optical coherence tomography (SD-OCT) revealed the lesions at the level of retinal pigment epithelium with impingement onto the outer retina. SD-OCT angiography through the flecks revealed hyperreflective lesions at the level of avascular retina. RE B-scan revealed a T-sign. Based on these findings, she was diagnosed with BE benign familial fleck retina (BFFR) with RE posterior scleritis. We describe the multimodal imaging features in a middle-aged patient with BFFR and provide an insight into the probable pathogenesis.

Multimodal imaging of pigmented paravenous retinochoroidal atrophy.

AIM: To describe the multimodal imaging findings of pigmented paravenous retinochoroidal atrophy. METHODS: A 23-year-old female presented to us for a routine ocular examination. She had a best-corrected visual acuity of 6/6 in both eyes. Anterior segment examination was unremarkable. Fundus examination showed pigmentary changes along the retinal vasculature extending from mid periphery to post-equatorial retina suggesting a diagnosis of pigmented paravenous retinochoroidal atrophy. Swept-source optical coherence tomography of the macula showed choriocapillaris thinning at the mid periphery whereas coherence tomography angiography at the mid periphery showed a relatively normal choriocapillaris vasculature in the early stage of the disease. CONCLUSION: A relatively normal choriocapillaris structure was seen on ocular coherence tomography angiography which could have been due to a milder form of the disease in a young patient.

Posterior choroidal fluid loculation in central serous chorioretinopathy presenting as a choroidal elevation: A rare Pachychoroid phenotype.

PURPOSE: To describe an unusual variant of central serous chorioretinopathy (CSC) presenting as a choroidal elevation with subretinal fluid and its response to accepted treatment modalities of CSC. DESIGN: A retrospective case series. SUBJECTS: Six eyes of three patients, two males and one female, with a mean age of 55.3 years, were included in the study. All of them had Pachychoroid features, solitary choroidal elevation and subretinal fluid on optical coherence tomography (OCT); none of the patients had a previous episode of CSC. METHODS: Patients were studied with biomicroscopy, ultrasonography, fluorescein angiography and indocyanine green angiography. Systemic evaluation to rule out inflammatory and infective pathologies, and an oncologist referral also was done. Patients were managed in the line of central serous chorioretinopathy, using conservative treatment, focal laser and oral eplerenone. MAIN OUTCOME MEASURES: Resolution of subretinal fluid and choroidal elevation. RESULTS: Complete resolution of choroidal elevation and subretinal fluid was noted in all the three patients. There was no recurrence till the end of follow-up. CONCLUSION: Pachychoroid disease may present as solitary choroidal elevation with subretinal fluid due to exaggerated posterior choroidal fluid loculation and has a favourable outcome. However, it should be considered after exclusion of other differential diagnoses.

Pediatric choroidal neovascularization: Etiology and treatment outcomes with anti-vascular endothelial growth factors.

PURPOSE: To describe the etiology and treatment outcomes of choroidal neovascularization (CNV) in a pediatric population with intravitreal anti-vascular endothelial growth factors (VEGF). METHODS: Retrospective single center interventional case series. A total of 26 eyes of 23 consecutive pediatric patients with CNV of various etiologies were treated with intravitreal injection of anti-VEGF agents. RESULTS: There were 15 males (65.2%) and eight females (34.8%), diagnosed with CNV during the study period. The mean age at presentation with CNV was 11.7 ± 3.3 years, (range 4-16 years) and the mean follow was 28.1 ± 18 months, (range 8-72 months). Inflammatory CNV was the most common etiology. The mean best corrected visual acuity (BCVA) and mean central macular thickness (CMT) at presentation, were logMAR 0.8 ± 0.3 and 367.6 ± 134.8 µm respectively. At the final visit, CNV in all eyes remained regressed with significant improvement in mean BCVA to logMAR 0.4 ± 0.4 (p < 0.0001) and mean CMT to 242.5 ± 82.4 µm (p < 0.0001). A mean of two intravitreal injections per eye was required for CNV regression. CONCLUSION: Intravitreal anti-VEGF therapy for pediatric CNV is an effective treatment in majority of affected eyes.