AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up.

BACKGROUND: Autosomal dominant Müller cell dystrophy is a rare condition we described in 1991. It is characterized by a striking sheen appearance on the retinal surface with progressive retinal changes leading to disorganization and atrophy with a decreased b-wave electroretinograms. MATERIALS AND METHODS: We examined 45 members of a 4-generation family. Fifteen subjects from three generations were found with the disease, without gender predilection. Seven patients underwent ophthalmic examination including fundus examination, intravenous fluorescein angiogram, spectral-domain optical coherence tomography, and electroretinogram. Six patients have a 30-year follow-up. Histopathology examination was performed on eyes of the eldest patient. Whole exome sequencing was done in four affected subjects. RESULTS: Findings include a decreased visual acuity, abnormal cellophane-like sheen of the vitreoretinal interface, a "plush" nerve fiber layer, and characteristic macular changes. Electroretinogram showed a selective b-wave diminution. Intravenous fluorescein angiogram presented perifoveal hyperfluorescence and capillary leakage. Spectral-domain optical coherence tomography revealed cavitations involving inner and later outer retinal layers with later disorganization. Histopathologic findings included Müller cell abnormalities with cystic disruption of inner retinal layers, pseudoexfoliation in anterior segment, and amyloidosis of extraocular vessels. Pedigree analysis suggests an autosomal dominant inheritance with late onset. DNA analysis demonstrated a previously undescribed heterozygous missense p.Glu109Val mutation in transthyretin. CONCLUSION: To the best of our knowledge, this is the first family reported with this disorder. Our data support the hypothesis that autosomal dominant Müller cell dystrophy is a distinct retinal dystrophy affecting Müller cells. Mutations in transthyretin gene may manifest as a predominantly retinal disorder.

Full- versus partial-thickness sutures: experimental models of corneal injury repair.

PURPOSE: To evaluate the performance of full-thickness (FT) versus partial-thickness (PT) sutures in a full-thickness corneal wound in an animal model. METHODS: This is a prospective, experimental, comparative, longitudinal study. A 6-mm linear, full-thickness corneal incision was performed on the right eye of eight domestic pigs. Eyes were randomly assigned for repair with interrupted PT (80-90% depth) sutures or FT 10-0 nylon sutures. Anterior segment OCT, corneal pachymetry and clinical photographs were obtained 1, 4 and 8 weeks postoperatively. Corneal thickness, depth of suture placement, perilesional edema, coaptation of wound edges and complications were noted. Histopathologic examination was performed at 8 weeks. RESULTS: 100% of the eyes with FT sutures developed a linear, less opaque scar. 100% of the eyes with PT developed a dense, opaque stromal scar (p = 0.02). Vascularization of the cornea was present in 75% of PT group and 25% in the FT group (p = 0.50). As the corneas healed, there was a marked trend toward thicker corneas in the PT group versus FT group with a median difference of - 63 µm at week 1 [median 788 µm vs. 725 µm, (p = 0.11)], - 38 µm at week 4, (724 µm vs. 686 µm, (p = 0.63)) and - 47 µm median difference at week 8 with (670 µm vs. 623 µm, (p = 0.06)). Histopathology showed disorganization of the collagen fibers and the formation of a retrocorneal fibrous membrane in the PT group. CONCLUSIONS: The FT group presented less corneal edema at week 8 with a more linear and less opaque scar. Histopathology showed a better-organized scar and endothelialization without the formation of a fibrous membrane.

Multiple Penetrating Eye Wounds Due to Suspected Self-Injury.

We present a case of a 29-year-old male night watchman complaining of sudden decreased vision, redness, and tearing of the left eye. On anamnesis, trauma was denied and personal past history was relevant for right eye enucleation due to an "eye injury" 8 years prior. At presentation, his visual acuity was 20/200 and intraocular pressure (IOP) was 10 mmHg. Slit lamp examination revealed a 1-mm inferonasal corneal wound and a localized lens opacity associated with extrusion and posterior extension of cortical material in the same quadrant. Echography confirmed posterior lens capsular bag puncture with hyperechogenic material in the anterior vitreous. Intraocular foreign body was ruled out. Topical anti-inflammatory and cycloplegic treatment was initiated with partial visual recovery, IOP rise, moderate anterior chamber inflammatory reaction, and an emergent posterior subcapsular cataract. A pars plana vitrectomy and lensectomy were performed. After surgery and recovery, best-corrected visual acuity with contact lens was 20/15. The patient was followed for 6 years, during which he returned 6 more times with a variety of new findings, such as new corneal leukoma, leaking corneal wounds, hypotony, choroidal folds, and choroidal detachments, each time with full visual acuity recovery. Some cases of ocular injury and self-mutilation have been described in the context of various psychiatric disorders. Self-inflicted injuries were suspected due to substance abuse, although the patient denied doing so. Referral to a psychiatrist was insisted on several occasions without success. However, potentially life-threatening complications may arise; therefore, psychiatric referral is imperative.

Radial optic neurotomy for central retinal vein occlusion: results of the Pan-American Collaborative Retina Study Group (PACORES).

OBJECTIVE: To evaluate the complications after radial optic neurotomy (RON) for central retinal vein occlusion (CRVO). METHODS: Seventy-three consecutive patients (73 eyes) with CRVO who were treated with RON participated in a retrospective, uncontrolled, interventional, multicenter case series at 7 institutions from 6 countries. RESULTS: In the ischemic CRVO group (n = 53), 32% of eyes had an improvement in best-corrected visual acuity (BCVA) (mean, 5.5 lines), 35.8% had worse BCVA (mean, 6.4 lines), and 32% had BCVA that remained the same after RON. In the nonischemic CRVO group (n = 20), 50% of eyes had an improvement in BCVA (mean, 6.5 lines), 15% had worse BCVA (mean, 4.3 lines), and 35% had BCVA that remained the same after RON. Complications occurred in 71.2% of cases, including cataract in 17 eyes (23.2%), vitreous hemorrhage in 16 eyes (20.5%), persistent macular edema in 15 eyes (20.5%), neovascular glaucoma in 7 eyes (9.5%), anterior segment neovascularization in 5 eyes (6.8%), retinal detachment in 3 eyes (4.1%), and phthisis bulbi, choroidovitreal neovascularization, central retinal artery perforation, and optic nerve atrophy in 1 eye (1.3%) each. CONCLUSIONS: RON may improve visual acuity in some eyes with CRVO, but complications are common. In our series, surgery by itself did not seem to improve the outcome of CRVO when compared with its natural history.

Primary Repair of Moderate Severity Rhegmatogenous Retinal Detachment: A Critical Decision-Making Algorithm.

We reviewed all the available data regarding the current management of non-complex rhegmatogenous retinal detachment and aimed to propose a new decision-making algorithm aimed to improve the single surgery success rate for mid-severity rhegmatogenous retinal detachment. An online review of the Pubmed database was performed. We searched for all available manuscripts about the anatomical and functional outcomes after the surgical management, by either scleral buckle or primary pars plana vitrectomy, of retinal detachment. The search was limited to articles published from January 1995 to December 2015. All articles obtained from the search were carefully screened and their references were manually reviewed for additional relevant data. Our search specifically focused on preoperative clinical data that were associated with the surgical outcomes. After categorizing the available data according to their level of evidence, with randomized-controlled clinical trials as the highest possible level of evidence, followed by retrospective studies, and retrospective case series as the lowest level of evidence, we proceeded to design a logical decision-making algorithm, enhanced by our experiences as retinal surgeons. A total of 7 randomized-controlled clinical trials, 19 retrospective studies, and 9 case series were considered. Additional articles were also included in order to support the observations further. Rhegmatogenous retinal detachment is a potentially blinding disorder. Its surgical management seems to depend more on a surgeon´s preference than solid scientific data or is based on a good clinical history and examination. The algorithms proposed herein strive to offer a more rational approach to improve both anatomical and functional outcomes after the first surgery.

The uvea in ocular trauma.

The uveal tissue is frequently affected in ocular trauma. Its anatomic and physiologic changes are responsible for many of the early and late clinical manifestations seen in the traumatized eye. Together with the retina, the uvea may be the tissue most responsible for the final visual and functional outcomes of the eye. Understanding its pathophysiology is the first step leading to proper management and ultimately to vision preservation.

Subretinal perfluorocarbon liquid for dissection of proliferative vitreoretinopathy.

Proliferative vitreoretinopathy (PVR) is a frequent condition following complex retinal detachments or trauma, and subretinal PVR is a common cause of retinal redetachment. Subretinal PVR removal is challenging and may require creating multiple or large retinotomies, making manipulation of the retina difficult and sometimes hazardous. We propose a novel surgical technique that may facilitate subretinal removal of PVR. After peripheral retinotomy of 180 degrees or greater, perfluorocarbon liquid (PFCL) is carefully introduced into the subretinal space as a single bubble which provides space to perform the maneuvers. The PFCL serves as a second hand which folds the retina over, thereby allowing better visualization for safer and easier subretinal PVR removal. PFCL in then removed by direct aspiration as a single bubble while still under balanced salt solution, taking advantage of its high surface tension which prevents leaving bubbles behind. The described technique allows adequate exposure of the subretinal space for proper dissection of difficult-to-reach subretinal PVR. We applied this technique in five patients with chronic retinal detachment, extensive subretinal PVR and poor visual potential. The utilization of subretinal PFCL can assist dissection of subretinal PVR and may be useful in eyes with complicated retinal detachment and poor visual prognosis.

A modified technique for extracting a dislocated lens with perfluorocarbon liquids and viscoelastics.

The authors describe a modified technique for extraction of a dislocated crystalline lens or large and hard lens fragments displaced into the vitreous cavity. An ophthalmic viscosurgical device was used around and on top of the heavy liquid bubble to keep the lens centered and less mobile for easier phacofragmentation or removal by the cutting-suction probe. This technique was used in 10 eyes, including cases of traumatic dislocation and Marfan syndrome, with excellent anatomical results and no complications that could be attributed to the surgical technique. The technique has also been used to retrieve and reposition dislocated intraocular lenses.

Intraocular pressure rise during 25-gauge vitrectomy trocar placement.

PURPOSE: Small-gauge vitrectomy has been used to treat various vitreous and macular pathologies. Trocar/cannula insertion may raise intraocular pressure (IOP) to the point it might become detrimental to the eye, especially in the setting of open-globe trauma and eyes with severe vascular compromise. We propose to determine the magnitude of this IOP rise and its possible implications. METHODS: Three different settings were designed to measure IOP rise during trocar placement for 25 ga vitrectomy (TSV); water-column manometry was performed during trocar placement in pig eyes. Electronic applanation tonometry was recorded in human eyes undergoing 25-ga vitrectomy for macular pathology during trocar placement, and wound behavior was recorded during trocar placement in harvested dog eyes with a previously sutured corneal wound. RESULTS: The pressure recorded during trocar placement was 57.5 mmHg in pig eyes and 63.7 mmHg in human eyes. Sutured corneal wounds in dog eyes showed wound leakage and tissue incarceration during trocar insertion. CONCLUSIONS: The 25-ga vitrectomy system may have limited usefulness in the setting of open-eye trauma and compromised bloodflow, due to the elevated pressures reached during trocar placement.

Short-term effects of intravitreal bevacizumab for subfoveal choroidal neovascularization in pathologic myopia.

PURPOSE: To determine short-term effects of intravitreal bevacizumab for subfoveal choroidal neovascularization (CNV) in pathologic myopia. METHODS: In this prospective interventional case series, patients were treated with 2.5 mg of intravitreal bevacizumab and followed for 3 months. Best-corrected visual acuity (BCVA), optical coherence tomography (OCT), and fluorescein angiography (FA) were recorded. Indications for retreatment were active leaking CNV shown by FA and presence of subretinal fluid by OCT in combination with visual disturbances. RESULTS: Fourteen patients were included, with a mean age of 53.86 +/- 16.26 years (range 29-85). Mean spherical equivalent was -13.87 +/- 3.68 diopters (-7.25 to -20.50). Minimum follow-up was 3 months. There were no adverse events. The mean initial visual acuity was 20/200 improving to 20/100 at 2 weeks, 20/80 at 4 weeks, and 20/60 at 8 and 12 weeks (P=0.007; P=0.001; P=0.005; P=0.001, respectively). Initial foveal thickness improved from 385.43 microm +/- 125.83 microm to 257.64 +/- 76.6 microm and 194.54 +/- 54.35 microm after the first and third month, respectively (P=0.001). CONCLUSIONS: Initial treatment results of patients with CNV due to pathologic myopia did not reveal any short-term safety concerns. Intravitreal bevacizumab resulted in a significant decrease in foveal thickness and improvement in visual acuity. These favorable initial results support further larger and long-term studies.

Retinal vascular occlusion following ocular contusion.

PURPOSE: To describe an unusual fundus abnormality in eyes after trauma and its pathophysiologic basis. METHODS: Prospective, observational case series of five consecutive male patients who suffered retinal vascular occlusions after ocular contusion. RESULTS: We present five cases of retinal vascular occlusions following ocular contusion, found on routine fluorescein angiography in otherwise healthy individuals. CONCLUSIONS: Different patterns of retinal vascular occlusions can occur in ocular trauma. The pathogenesis of these occlusions may be related to direct damage to the endothelium.