Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

BACKGROUND: To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family. DESIGN: Interventional family study. RESULTS: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness. CONCLUSION: Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.

Central Retinal Vein Occlusion with Three-Retinal Quadrant Involvement: Another Focus on Optic Disc Head Vascular Anatomy Variations.

A 50-year-old male patient with sudden visual acuity loss in his right eye came to our clinic. Visual acuity at presentation was 1/10 in right eye and 10/10 in left. The patient was otherwise healthy Caucasian man without any history of previous systemic or ophthalmic disease. There was not any history of amblyopia and refractive error. Anterior segment findings were unremarkable. Three quadrants of retina were fully involved with central retinal vein occlusion (CRVO) features including retinal hemorrhages, retinal edema obscuring retinal details, and cotton wool spots while sparing inferior temporal quadrant. Inferior temporal quadrant sparing in this patient is due to a specific retinal vascular anatomical variation. In conclusion, in unusual presentations of retinal vascular branch obstructions, considering retinal vascular anatomy variations would help us to explain the clinical presentation more precisely in some cases.

Conventional and Pattern Scanning Pan-Retinal Photocoagulation Laser in Diabetic Patients' Visual Field.

Introduction: In this study, we aimed to compare visual field defects in two different laser methods, namely conventional pan-retinal photocoagulation (PRP) and pattern scanning PRP, in patients with either proliferative diabetic or very severe non-proliferative diabetic retinopathy. Methods: This study was a randomized, single-blind, prospective clinical trial. Twenty patients with either proliferative or very severe non-proliferative diabetic retinopathy were enrolled in this study. Notably, only those patients with the same severity scores in both eyes were included. One eye underwent the conventional PRP laser and another eye underwent the pattern scanning PRP laser simultaneously. Swedish interactive threshold algorithms (SITA) standard perimetry was performed at baseline and one month after the treatment, and visual field defects were evaluated. Results: The pattern standard deviation (PSD) significantly increased in both the pattern and conventional PRP laser groups after one month. The change of the PSD at baseline and after the treatment was not significant between the groups. The mean deviation (MD) level significantly decreased in the conventional group after one month. The change in the MD level at baseline and after the treatment was not significant between the pattern and conventional groups. The change in the mean best corrected visual acuity (BCVA) between the groups was not significant. Conclusion: Changes in visual acuity and visual fields of the patients between the pattern and conventional PRP laser methods showed no significant difference; however, the pattern PRP method caused a smaller reduction in overall sensitivity in the patient's visual field.

Analysis of Retinal Layers' Thickness and Vascular Density after Successful Scleral Buckle Surgery.

PURPOSE: To investigate retinal layers' thickness and vascular density after successful scleral buckle surgery using the optical coherence tomography angiography (OCTA) method. METHODS: In this prospective interventional case-control study, 24 patients with macular-off rhegmatogenous retinal detachment (RRD) were included after performing successful reattachment by scleral buckling. Retinal layers' thickness and vascular density were assessed in the patients using the OCTA method compared to normal fellow eyes as controls 10 months postoperation. RESULTS: Inner retinal layers showed no significant difference, but there was a significant reduction in outer central 1-mm retinal layers' thickness. Outer plexiform-Bruch's membrane (153.1 ± 24.3 µm vs. 166.2 ± 15.1 µm, P = 0.003) and ellipsoid zone to Bruch's membrane (51.25 ± 9.3 µm vs. 57.35 ± 3.8 µm, P = 0.009) were thinner in the operated eyes compared to fellow eyes. Vascular density within a 300 µm wide region around the foveal avascular zone (FAZ) (foveal density-300) was significantly lower in the detached eyes (46.28% ± 7.12% vs. 51.01% ± 4.73%, P = 0.016), however, there was no difference in superficial and deep vascular density at 1-mm central circle. Superficial parafoveal vascular density was lower in the operated eyes (46.24% ± 5.30% vs. 49.52% ± 5.93%, P = 0.026) with no significant difference in deep parafoveal vascular density (49.93 ± 4.29% vs. 51.88% ± 4.79%, P = 0.137). There was no difference in FAZ area and perimeter between the two groups. CONCLUSIONS: Complete recovery of retinal thickness and vascular density did not achieve in the patients with RRD even after 10 months of reattachment by scleral buckling surgery. Superficial capillary vascular density was more affected than deep vascular density almost in the parafoveal area.

Severe Optic Disc Cupping Following the Methanol Toxicity in a 20-Year-old Man: A Case Report.

In April 2018, a 20-year-old man with a history of methanol intoxication from an alcoholic drink two years ago, when he was 18 years old, was referred to Nikookari Eye Hospital in Tabriz, Iran. He was admitted to emergency service and underwent eight hours of hemodialysis at the time of poisoning. His past medical history was negative, and he did not take any medication after discharge. The patient had a driving license and never experienced any visual problems before. At presentation, his visual acuity was 160/200 in both eyes with the main complaint of visual field deterioration. Other neurologic exams and brain magnetic resonance imaging (MRI) were reported normal by a neurologist. Optic disc cupping was near total in both eyes with a very narrow remaining rim. Optic disc cupping was very similar to glaucomatous cupping. Intraocular pressure was checked several times via Goldmann tonometry and was 13 mmHg. There was no history of refractive surgery leading to thin cornea. Based on this case, methanol poisoning can mimic glaucomatous optic disc cupping. This is the first case report of methanol toxicity-related optic disc cupping from Iran.

Tonometry by Ocular Response Analyzer in Keratoconic and Warpage Eyes in Comparison with Normal Eyes.

PURPOSE: To compare intraocular pressure (IOP) values measured by ocular response analyzer (ORA) in contact lens-induced corneal warpage, normal, and keratoconic eyes. METHODS: In a prospective, observational case-control study, 94 eyes of 47 warpage-suspected cases and 46 eyes of 23 keratoconic patients were enrolled. Warpage-suspected cases were followed until a definite diagnosis was made (warpage, nonwarpage normal, or keratoconus). ORA tonometry and corneal biomechanics testing were performed for all cases in each visit. We had 2-3 measured corneal-compensated IOP (IOPcc) and Goldmann-correlated IOP (IOPg) for each patient (based on group) with at least 2-week interval. RESULTS: After following up of warpage-suspected patients, finally 44 eyes of 22 patients had confirmed soft contact lens-related corneal warpage. Forty-six eyes of 23 people were finally diagnosed as nonwarpage normal eyes. Forty-six eyes of 23 known keratoconus patients were also included for comparison. The demographic and refractive data were not different between the warpage and nonwarpage normal groups but were different in the keratoconus group. Both IOPcc and IOPg were statistically different with the highest value in the warpage group followed by normal and keratoconus groups; the same trend was observed in central corneal thickness (CCT). The mean of IOPg was 14.94 ± 2.65, 13.7 ± 2.33, and 10.86 ± 3 and IOPcc was 15.73 ± 2.4, 15.28 ± 2.43, and 14.08 ± 2.55 in the warpage, normal, and keratoconus groups, respectively. IOPg and IOPcc in the warpage group (based on baseline diagnosis) did not regress to become closer to IOP of normal eyes after discontinuation of contact lens in their follow-up visits (P value for IOPg and IOPcc trends in the warpage group was 0.07 and 0.09 controlling for CCT, respectively). Both IOPcc and IOPg were significantly lower in keratoconic eyes in comparison with normal eyes. After correction for the confounding effect of CCT, a lower IOPcc in keratoconus versus warpage remained significant (P = 0.02). CONCLUSION: Both IOPcc and IOPg were statistically different with the highest value in the warpage group followed by normal and keratoconus groups, just like their CCT. After correction for the confounding effect of CCT, there was no statistically significant difference between the three groups in their measured IOPcc and IOPg except for IOPcc in keratoconus versus warpage (P = 0.02).

Bilateral Type 1 Idiopathic Macular Telangiectasia in a Female Patient: Multimodal Imaging of a Rare Presentation.

We report a bilateral case of type 1 idiopathic macular telangiectasia (IMT) in a female patient. A 40-year-old otherwise healthy female with gradual vision loss since 2 years ago with best-corrected visual acuity of 20/400 in both eyes was referred. Her past medical history was negative for any systemic disease including diabetes and systemic hypertension. Color fundus photography showed bilateral loss of normal foveal reflex with macular edema. Fluorescein angiography demonstrated symmetric perifoveal telangiectasia mainly in the superior and nasal macula in both eyes with late staining and leakage. Spectral-domain optical coherence tomography revealed significant intraretinal fluid bilaterally and subretinal fluid in the left eye. Optical coherence tomography angiography (OCTA) revealed obvious saccular parafoveal capillary telangiectasia and capillary dropout as well as decreased vascular density in both superficial and deep capillary plexus. Deep capillary plexus involvement in OCTA was more evident than superficial plexus. Based on the patient's medical history and multimodal imaging, the diagnosis of bilateral IMT type 1 was made. The patient underwent 5 intravitreal monthly injection of bevacizumab in both eyes, which resulted in macular edema resolution. However, after 3 months of discontinuation of intravitreal bevacizumab, macular edema relapsed. In conclusion, type 1 IMT can occur bilaterally in an otherwise healthy female patient as a very rare presentation. To the best of our knowledge, this case is the 4th case of bilateral type 1 IMT reported in a female.

Photopigment Bleaching Phenomenon on Fluorescein Angiography in a Patient with Impending Central Retinal Vein Occlusion.

PURPOSE: To present the second case of photopigment bleaching phenomenon in fluorescein angiography (FA) and the first case of this phenomenon due to impending central retinal vein occlusion (CRVO). CASE REPORT: A 32-year-old healthy female noticed blurred vision in her right eye one day before presentation. Despite the 20/20 visual acuity at presentation, mild increased retinal vascular tortuosity and unilateral photopigment bleaching phenomenon in FA was observed in the right eye. Three weeks later, she developed a complete CRVO with visual acuity reduction to 20/40 that responded well to the intravitreal injection of aflibercept. CONCLUSION: Impending CRVO can cause unilateral photopigment bleaching phenomenon in FA that may be due to retinal ischemia.

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

BACKGROUND: To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. METHODS: Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, enhanced depth imaging optical coherence tomography (EDI-OCT), fluorescein angiography (FA), electroretinography (ERG), and electrooculography (EOG). Optical coherence tomography angiography (OCTA) and BEST1 gene sequencing were performed in selected patients. RESULTS: The age at onset was 4-35 years (mean: 18.6 years). The male-to-female ratio was 0.45. All patients were hyperopic, except one with less than one diopter myopia. EOG was abnormal in 18 cases with near-normal ERGs. Six patients did not undergo EOG due to their young age. Eighteen patients (75%) had a thick choroid on EDI-OCT, of which three had advanced angle-closure glaucoma, 15 patients were hyperopic, and eight of them had more than four diopters hyperopia in both eyes. Macular retinoschisis was observed in 46 eyes of 23 patients (95%) with cysts mostly located in the inner nuclear layer (INL) to the outer nuclear layer (ONL). Of the 18 patients who underwent FA, mild peripheral leakage was seen in eight eyes of four patients (22%). Subfoveal choroidal neovascularization (CNV) was seen in three eyes of two patients (6%) that responded well to intravitreal bevacizumab (IVB). Seven mutations of the bestrophin-1 (BEST1) gene were found in this study; however, only two of them (p.Gly34 = and p.Leu319Pro) had been previously reported as the cause of ARB based on ClinVar and other literature studies. CONCLUSIONS: ARB can be presented with a wide spectrum of ocular abnormalities that may not be easily diagnosed. Pachychoroid can occur alongside retinal schisis and may be the underlying cause of angle-closure glaucoma in ARB. Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB.

Acute Lymphoblastic Leukemia Presenting as Acute Vogt-Koyanagi-Harada Syndrome.

We aimed to describe a case of acute lymphoblastic leukemia (ALL) that initially presented and was managed as Vogt-Koyanagi-Harada syndrome (VKH). A 62-year-old man was referred for vision loss starting 1 week ago. There was no prior systemic or ocular history. Visual acuity was 20/200 in both eyes. Anterior segment exam was also normal in both eyes. On funduscopy, foveal reflex was significantly reduced. On optical coherence tomography, subretinal fluid was evident in both eyes. Fluorescein angiography showed a hypofluorescent area compatible with subretinal fluid and multiple pinpoint hyper- and hypofluorescent dots surrounding the detached retina. After 4 days, we were informed that the patient had been admitted to a general hospital due to spontaneous ecchymosis and melena. On complete blood count, there was a high white cell count, thrombocytopenia, and low hemoglobin concentration with a probable diagnosis of leukemia. On bone marrow biopsy, ALL with B-cell precursor was confirmed. In conclusion, exudative retinal detachment can be a primary presentation of leukemia and/or lymphoma. In atypical VKH or acute central serous chorioretinopathy cases with multiple pinpoint leakages distributed mostly in the periphery of the subretinal fluid area (not randomly scattered throughout the subretinal fluid), we should consider leukemia.

Uveitis-induced Refractory Ocular Hypotony Managed with High-dose Latanoprost.

PURPOSE: To report a case of refractory ocular hypotony due to chronic Behcet's disease with good response to high-dose topical latanoprost. CASE REPORT: We present a 26-year-old man with a known history of Behcet's disease who developed decreasing vision and severe ocular hypotony that was refractory to multiple treatment modalities including subtenon triamcinolone acetonide, ibopamine, pars plana vitrectomy, and silicone oil injection. We decided to try high-dose topical latanoprost for the management of ocular hypotony based on recent reports. After six months, intraocular pressure (IOP) increased by 5 mm Hg, became stable at 7 mm Hg, and remained unchanged at month 24. CONCLUSION: High-dose topical latanoprost could lead to significant increase in IOP in uveitis-induced refractory ocular hypotony.

Presumed Intraocular Lymphoma Masquerading as Age-Related Macular Degeneration: A Case Report.

PURPOSE: To describe a case of primary vitreoretinal lymphoma (PVRL) that initially presented and managed as dry type age-related macular degeneration (AMD). METHODS: A 69-year-old male was referred to us by decreased vision. RESULTS: On funduscopy, a few small hard drusen at the posterior pole of the right eye and many large confluent drusen in the left eye were observed. Optical coherence tomography findings included the hyperreflective drusenoid materials in the subretinal pigment epithelium (sub- RPE) space which was similar to previous imaging records except for decreased area and height of pigment epithelial detachments and RPE and ellipsoid zone attenuation in some areas appeared. The thickness of the retina was normal, but the choroid appeared to be slightly decreased compared to the left eye. Patient has been followed up with the diagnosis of AMD for 1 year. After the right hemiparesis presentation, he underwent craniotomy and biopsy that made the diagnosis evident. CONCLUSION: PVRL/primary central nervous system lymphoma may be one of the most important masquerades of AMD, but a significantly waxing and waning course may help to make correct diagnosis.

The effect of scleral buckling on accommodative amplitude.

PURPOSE: To evaluate the effect of scleral buckling on accommodative amplitude. DESIGN: Non-randomized, prospective, double masked clinical trial in which the fellow eye of patients undergoing scleral buckling served as a control. METHODS: Patients who underwent scleral bucking for the management of retinal detachment in at least one eye were enrolled. Accommodative amplitude was measured monocularly 1 month and 3 months post operatively by two masked optometrists using a near-point "push" technique and minus-to-blur technique. Accommodative amplitude in eyes that underwent scleral buckle surgery were compared to their fellow eyes. Buckle type, buckle location, lens status and age were analyzed. Generalized Estimation Equations (GEE) were used to compare means and percentages between two groups. RESULTS: Seventy-four eyes of 37 patients were included in the study. Median age was 44 years old (range: 31-67 years old) and 68.4% of patients were male (n = 24). Two patients required bilateral surgery. Thirty-six of 39 operated eyes (92.3%) were phakic and three were pseudophakic. In phakic eyes there was a significantly higher amplitude of accommodation in operated eyes compared to their fellow eyes at post-operative month one (0.99 diopters, p value = 0.002) and three (1.17 diopters, p value = 0.001). The difference in accommodative amplitude in post-operative eyes compared to control eyes did not reach statistical significance in pseudophakic eyes nor did it differ between those who had an encircling band and those with a segmental buckle at both one and 3 months after surgery (p value = 0.37 and 0.38, respectively). In those with a segmental buckle, inferior fixation resulted in a larger difference in accommodative amplitude compared to control eyes than any other location fixation. Age under 40 years old and better post-operative best corrected visual acuity (BCVA) both correlated with greater difference in accommodative amplitude compared to fellow eyes. CONCLUSION: Compared to fellow eyes not undergoing surgery, those eyes that underwent scleral buckling had a greater accommodative amplitude with larger differences correlating with better post-operative BCVA and younger age.

Intravitreal bevacizumab injection in aggressive posterior retinopathy of prematurity compared with type I retinopathy of prematurity.

PURPOSE: To compare type I retinopathy of prematurity (ROP) with aggressive posterior retinopathy of prematurity (AP-ROP) regarding risk factors, complications and treatment outcomes. METHODS: A prospective cohort approach was applied on premature newborns diagnosed as type I ROP and AP-ROP. An intravitreal injection of bevacizumab (Avastin®) was given to each patient. Demographic features such as gestational age, birth weight, age at the initial injection, involved eye, treatment response, relapses and need to extra interventions were compared. RESULTS: Seventy-seven patients underwent an initial intravitreal injection of bevacizumab (IVB), and 108 eyes were type I ROP and 30 eyes were AP-ROP. There was no significant difference in birth weight and gestational age between two groups. ROP relapsed in eight eyes of four patients with AP-ROP (26.6%), of which six eyes of three patients received re-injection of bevacizumab, and two eyes of one patient underwent a laser treatment. Recurrence occurred in two eyes of one patient with type I ROP (1.8%), which were treated by laser. CONCLUSION: Bilateral eye involvement, relapse and retreatment (IVB, laser and surgical intervention) are more frequent in AP-ROP than type I ROP even when treated with intravitreal bevacizumab injection.

Sclerotherapy for eyelid and anterior orbital venous-lymphatic malformation.

PURPOSE: To assess the efficacy of sclerotherapy with sodium tetradecyl sulfate (STS; Fibrovein 1%) in superficial periocular venous and lymphatic malformations. METHODS: Eleven patients with low-flow venous and lymphatic malformations with extension predominantly to the eyelids, conjunctiva, and anterior orbit were selected. Sclerotherapy with STS was undertaken as an office-based procedure without any radiological guidance. Injections were repeated every 4 weeks until desired response occurred. Therapeutic effect was assessed objectively by change in the size of the lesions in serial photography. RESULTS: The lesions completely resolved in 4 cases with small eyelid and fornix lesions. In other 7 cases there was partial resolution to less than half of primary size. We did not have any significant complications. CONCLUSION: Sclerotherapy with STS is an easy and effective modality for treatment of venous-lymphatic malformations and can be undertaken as an office-based procedure in lesions which are limited to eyelids and anterior orbit.

Orbital alveolar echinococcosis: A case report.

PURPOSE: To report a rare case of orbital alveolar echinococcosis in Iran. METHODS: A 23-year-old woman with multi-lobular mass lesion in the right orbit underwent excisional biopsy via a deep lateral orbitotomy approach. The pathologic investigation of the lesion was a multilobulated cystic lesion shown where the cyst wall structure was compatible with alveolar Hydatid cyst in histopathology. Clinical course, surgical, and medical management of the disease is noted briefly in the case of orbital involvement of the alveolar echinococcosis. RESULTS: Patient was treated with anti-fungal medication, and the cysts were successfully removed by a surgical excision. CONCLUSION: Although orbital alveolar echinococcosis is extremely rare, it is noteworthy to study its clinical manifestations and radiological examinations to be able to make a true diagnosis.