Structure of the Retinal Margin and Presumed Mechanism of Retinal Detachment in Choroidal Coloboma.

PURPOSE: To describe the vitreoretinal structure at the margin of the choroidal coloboma in infants and older patients using swept-source (SS) OCT. DESIGN: Retrospective case series. PARTICIPANTS: Nineteen eyes of 16 patients with choroidal coloboma (7 males, 9 females; average age, 12.3 ± 7.1 years). METHODS: The patients were classified into 2 groups: infants 1 year of age or younger (3 eyes) and older patients (16 eyes). Each finding on SS OCT was documented according to previously defined histopathologic findings. MAIN OUTCOME MEASURES: Description of the SS OCT features of choroidal colobomas. RESULTS: Swept-source OCT showed that the extracolobomatous retina centrally traversed the margin to continue as the marginal intercalary membrane (MICM), whereas the outer layers of the MICM were reversed at the point (point of reversal [POR]). The expected duplication was seen in all infant eyes, but in none of the older eyes whose outer layers of the MICM were ambiguous. However, at the boundary between the layered MICM and monolayered central intercalary membrane (CICM), the POR was detectable in all patients. Further SS OCT analysis showed that the MICM schisis and CICM schisis occurred simultaneously with vitreous traction. Retinal detachments (RDs) seen in 4 eyes were connected to the only MICM schisis, and a MICM break was identified in 1 eye. Swept-source OCT showed that retinal pigment epithelial hyperplasia adhered tightly to the retina and that the glial triangle was adhered tightly to the sclera, indicating barriers to the development of RD after MICM schisis. CONCLUSIONS: Swept-source OCT first visualized the POR in infant eyes and showed that the POR was identifiable despite the atrophic changes in the outer layer of the MICM in the older eyes. Based on the POR location, we confirmed that the intercalary membranes reported in previous OCT studies were clearly differentiated between the MICM and CICM. We also showed that the presence of MICM and CICM schisis resulted from vitreous traction at the coloboma margin and that MICM breaks induced RD only if the barrier that prevented the development of RD was broken.

Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy.

PURPOSE: To describe the clinical features and surgical outcomes of macular dragging or tractional retinal detachment that occurred as a result of fibrovascular tissue (FT) progression toward the posterior retina in eyes with familial exudative vitreoretinopathy (FEVR). METHODS: The medical records of 4 patients (2 girls, 2 boys) with FEVR were reviewed retrospectively. RESULTS: All 4 patients had retinal dragging or radial retinal folds with FT in the peripheral retina in at least 1 eye at the initial visit. During the follow-up period, all the patients had FT that progressed toward the posterior pole and developed from the peripheral FT, resulting in macular dragging or posterior tractional retinal detachment. Vitrectomy with or without scleral buckling and laser photocoagulation were performed in all 4 cases, with removal of the FT in the posterior pole and segmentation of the FT between the posterior and peripheral FT. The traction resolved postoperatively and the retina extended in all 4 cases. CONCLUSIONS: In 4 cases with FEVR, the FT developed from the peripheral FT, progressed toward the posterior retina, and generated traction. Vitrectomy with focal removal and segmentation of the FT in the posterior pole might be a good surgical option in such eyes.

Characteristics of Retinal Breaks and Surgical Outcomes in Rhegmatogenous Retinal Detachment in Familial Exudative Vitreoretinopathy.

PURPOSE: To determine the characteristics of retinal breaks and surgical outcomes in eyes with a rhegmatogenous retinal detachment (RRD) with familial exudative vitreoretinopathy (FEVR). DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Thirty-seven patients (46 eyes) with a RRD in FEVR. METHODS: The medical records were reviewed and the types, directions, and positions of the retinal breaks and surgical outcomes were analyzed. MAIN OUTCOME MEASURES: Fundus examinations, including ophthalmoscopy, fluorescein angiography, and RetCam imaging (Natus Medical Incorporated, Pleasanton, CA). RESULTS: The retinal breaks were identified as tears in 12 eyes, atrophic holes in 24 eyes, tears and atrophic holes in 2 eyes, dialysis-related in 1 eye, a retinal break in the ora serrata in 1 eye, and unidentified in 6 eyes. Most retinal breaks (86.1%) were identified only in the temporal retina. Most tears (85.7%) were observed on the demarcation line, whereas atrophic holes were identified both on the demarcation line (53.8%) and the avascular retina (42.3%). The representative tears were almond-shaped, which differs from the typical horseshoe-shaped tears. Scleral buckling was performed as the initial surgery in 37 eyes and resulted in reattachment in 35 eyes (94.6%). Vitrectomy with or without scleral buckle was performed for eyes with more complex RRD in FEVR and resulted in reattachment in 5 of 9 eyes (55.6%). In total, reattachment was achieved in 40 of 46 eyes (87.0%). There was a history of stage 1A or 2A FEVR in 45 eyes and a history of stage 2B FEVR in 1 eye. CONCLUSIONS: Our data clarified the types, directions, and positions of the retinal breaks and the effectiveness of scleral buckling as the first surgical choice for treating RRDs in FEVR.

Long-term surgical outcome of conventional trabeculotomy for childhood glaucoma.

PURPOSE: To investigate the long-term surgical outcomes of conventional trabeculotomy in eyes with childhood glaucoma in a Japanese population. METHODS: In this retrospective observational study, we enrolled Japanese patients with childhood glaucoma who underwent a conventional trabeculotomy at least once before age 3 years from 1986 to 2014 in our hospital. RESULTS: One hundred seven eyes of 64 patients (24 girls, 40 boys; mean age, 2.8 ± 5.1 months) were included. Sixty-eight (64%) eyes had primary childhood glaucoma (PCG) and 39 (36%) eyes had secondary childhood glaucoma (SCG). The average numbers of surgical operations performed to treat the two glaucoma types that resulted in significantly (p < 0.001) different surgical success rates were 1.4 ± 0.7 and 2.1 ± 0.8. Statistical analysis showed that eyes with PCG, compared with those with SCG, were successfully treated by one trabeculotomy and up to three trabeculotomies (hazard ratios 6.66 and 4.02, respectively). Age, gender, systemic complications, corneal diameter, corneal edema, and preoperative intraocular pressure did not significantly affect the surgical outcomes. CONCLUSIONS: Most eyes with PCG are treatable with a maximum of three trabeculotomies. However, SCG usually is refractory to trabeculotomy, and a more promising surgery must be designed.

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation.

PURPOSE: To report the clinical and genetic findings of a male toddler who presented bilateral bullous retinoschisis with a novel RS1 mutation. OBSERVATIONS: This is an observational case report of a patient referred to our hospital with esotropia. A comprehensive ophthalmic examination was performed with the boy (age, 1 year 4 months) under general anesthesia that included fundus examinations, fluorescein angiography (FA), swept-source optical coherence tomography (SS-OCT), and full-field electroretinography (FF-ERG). Genetic analysis of the coding region in the RS1 gene was performed by Sanger sequencing for the patient and mother. There was a family history of X-linked retinoschisis (XLRS). Fundus examinations and FA showed bullous retinoschisis bilaterally in the inferior retina. The SS-OCT images showed two kinds of schisis in the inner nuclear layer (INL) and more proximally. In general, the inner plexiform layer, ganglion cell layer, and retinal nerve fiber layer are in the proximal INL; however, in this case there was hyperreflective tissue with a rough surface instead of normal retinal layers. In addition, in the schisis cavity between the hyperreflective tissue and separated retina, a number of hyperreflective fiber-like strands arose from the hyperreflective tissue and extended to the schisis cavity. During the follow-up period, the bullous retinoschisis collapsed spontaneously in the right eye. FF-ERG showed a reduced b-wave and relatively preserved a-wave in all components. Genetic analysis showed a novel RS1 mutation (c.185_186insT, p.E62DfsX24 in exon 4) in the patient and mother. CONCLUSIONS AND IMPORTANCE: We report the detailed retinal structure in a genetically identified case of bullous retinoschisis. The notable finding was that the cavity of bullous retinoschisis contained a number of fiber-like strands as observed in the cavity of typical retinoschisis.

Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography.

PURPOSE: To analyze the structures of schisis in eyes with hereditary juvenile retinoschisis using en-face optical coherence tomography (OCT) imaging. METHODS: In this retrospective observational study, we reviewed the medical records of patients with hereditary juvenile retinoschisis who underwent comprehensive ophthalmic examinations including swept-source OCT. RESULTS: OCT images were obtained from 16 eyes of nine boys (mean age ± standard deviation, 10.6 ± 4.0 years). The horizontal OCT images at the fovea showed inner nuclear layer (INL) schisis in one eye (6.3 %), ganglion cell layer (GCL) and INL schisis in 12 eyes (75.0 %), INL and outer plexiform layer (OPL) schisis in two eyes (12.5 %), and GCL, INL, and OPL schisis in one eye (6.3 %). En-face OCT images showed characteristic schisis patterns in each retinal layer, which were represented by multiple hyporeflective holes in the parafoveal region in the GCL, a spoke-like pattern in the foveal region, a reticular pattern in the parafoveal region in the INL, and multiple hyporeflective polygonal cavities with partitions in the OPL. CONCLUSIONS: Our results using en-face OCT imaging clarified different patterns of schisis formation among the GCL, INL, and OPL, which lead to further recognition of structure in hereditary juvenile retinoschisis.