Diagnostic value of three-dimensional neuroretinal rim thickness for differentiation of superior segmental optic nerve hypoplasia.

Little is known about the diagnostic utility of three-dimensional neuroretinal rim thickness (3D-NRRT) for differentiating patients with superior segmental optic nerve hypoplasia (SSOH) from normal-tension glaucoma (NTG). Since SSOH is defined by characteristic optic nerve head features, investigation of diagnostic usefulness of 3D-NRRT is necessary. In this cross-sectional study, 49 SSOH eyes, 52 NTG eyes, and 41 normal eyes were enrolled. Retinal nerve fiber layer thickness (RNFLT) and 3D-NRRT values, as obtained in the right-eye orientation by optical coherence tomography (OCT), were recorded. On RNFLT clock-hour comparison, the 11-3 clock-hour sectors were significantly thinner for SSOH than for NTG (all P < 0.01). As for 3D-NRRT, whereas the 1 and 2 sectors were significantly thinner for SSOH (P < 0.001, P = 0.004), the 6-11 sectors were significantly thinner for NTG (all P < 0.01). The area under receiver operating characteristic (AUROC) curves of the superior and nasal quadrants of RNFLT (0.838, 0.729) were significantly greater than those of 3D-NRRT (0.518, 0.588; P < 0.001, P = 0.043). However, the AUROCs of the inferior and temporal quadrants were significantly greater for 3D-NRRT (0.728, 0.760) than for RNFLT (0.527, 0.550; P = 0.008, P = 0.019). The appropriate use of 3D-NRRT can be useful in differentiating SSOH from NTG.

OPTIC DISK PIT STUFFING-TO DO OR NOT TO DO.

PURPOSE: Optic disk pit (ODP) is a subset of spectrum of congenital cavitary anomalies. Optic disk pit maculopathy causes progressive visual deterioration and is addressed with pars plana vitrectomy (PPV) with or without ODP stuffing. PATIENT AND METHODS: We report a case of progressive ODP maculopathy who was taken up for 23-G 3-port PPV, with complete vitreous removal and stuffing of the ODP with autologous sclera and sequential analysis of change in the retinal nerve fiber layer (RNFL) thickness. RESULTS: Spectral-domain optical coherence tomography RNFL analysis at 1 and 12 months follow-up postoperatively showed total RNFL thickness decrease from 130 µm to 103 µm respectively. Hemiquadrant analysis showed slight reduction of superior RNFL thickness from 142 µm to 139 µm. However, in the inferior hemiquadrant, the reduction in mean RNFL thickness seems to be significant from 133 µm to 100 µm at 1 and 12 months respectively. Sector-wise analysis of the RNFL thickness showed maximum reduction in the inferotemporal quadrant and other sectors seemed to be relatively preserved corresponding to the area of scleral stuffing. CONCLUSION: Retrospective or prospective analysis of RNFL health of patients undergoing surgery for ODP-M with stuffing needs to evaluated.

Multimodal imaging of morning glory syndrome with persistent hyperplastic primary vitreous.

Morning glory syndrome (MGS) and persistent hyperplastic primary vitreous (PHPV) are congenital abnormity, which may be related to the increased incidence of systemic abnormalities and retinal detachment，diagnosed by ultrasound, identified by CT, MRI, and with the confirmation of fundus examination.

Morphology of Serous Retinal Detachment in Morning Glory Optic Disc Anomaly in a Patient before and after Treatment with Systemic Carboanhydrase Inhibitors.

BACKGROUND: Morning glory optic disc anomaly (MGODA) is a rare congenital defect of the optic nerve head. The optic nerve is enlarged, and its conical excavation is filled with glial tissue. It may be associated with cerebral malformations and ocular complications, whereas serous retinal detachment occurs in 38% of affected patients. Surgical treatment of detachment showed poor visual outcome in the past and conservative treatment options are scarce. CASE: A woman with MGODA presented in our clinic with sudden vision loss due to serous retinal detachment. She denied any previous ophthalmological problems and her past medical history was unremarkable. Vision testing showed normal visual acuity in her left eye and finger counting in her right eye. Slit lamp examination was unremarkable. Fundus examination of the right eye showed retinal detachment without holes or traction membranes and an enlarged optic disc with raised peripapillary tissue and glial tissue in the center of the optic disc. Due to the pathognomonic otpic disc finding, we diagnosed MGODA complicated by a serous retinal detachment. We treated the patient with systemic carboanhydrase inhibitors and documented the initial clinical findings as well as the course of disease under treatment by optical coherent tomography (OCT), fundus autofluorescence imaging (FAF), and visual field testing. During follow-up, we detected noticeable subretinal fluid regression and improvement in visual acuity. CONCLUSION: The application of oral carboanhydrase inhibitors appears to be a valid therapeutic option in patients with MGODA-associated serous macular detachment. OCT and FAF imaging are useful modalities for documentation of subretinal fluid regression and structural changes in the peripapillary region.

AUTOLOGOUS RETINAL TRANSPLANT FOR REFRACTORY SEROUS RETINAL DETACHMENT SECONDARY TO OPTIC DISK PIT: A NOVEL SURGICAL APPROACH.

PURPOSE: To present a new technique to treat refractory retinal detachment secondary to optic disk pit. METHODS: An interventional case report. RESULTS: A 25-year-old man with congenital optic disk pit had two failed vitrectomies involving laser around the optic disk, internal limiting membrane peel and flap to plug the disk pit, and gas tamponade to reattach the retina. With all options running out, a further vitrectomy with autologous retinal transplant and silicone oil tamponade was performed to treat the refractory serous retinal detachment; the silicone oil was removed at 6 weeks after the last procedure. The retina remained successfully attached at 6 months postsurgery with the patient maintaining his baseline visual acuity. CONCLUSION: The use of autologous retinal transplant is a new approach to treat refractory retinal detachment secondary to congenital optic disk anomalies, and adds to our options of dealing with this complex condition when first-line approaches have failed.

OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.

PURPOSE: To report a case of Noonan syndrome with multiple lentigines with unusual ocular features. METHODS: The authors describe a case of a 7-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic disks. RESULTS: A 7-year-old girl with genetically proven Noonan syndrome with multiple lentigines ( PTPN11 gene mutation) and anomalous optic disks was referred for treatment of persistent macular detachment after 1 year of conservative follow-up. The right eye demonstrated an optic disk coloboma with the best-corrected visual acuity of 20/32, the left eye demonstrated an optic disk pit with serous macular detachment (best-corrected visual acuity 20/50-20/80). Optical coherence tomography demonstrated a neurosensory detachment. Twenty-five gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disk pit area, and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of the visual acuity to 20/32. CONCLUSION: A case of Noonan syndrome with multiple lentigines with optic disk coloboma in the right eye and optic disk pit with related maculopathy in the left eye. To the best of the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disk anomalies. Optic disk pit maculopathy was managed surgically because of its longstanding nature with the deteriorating visual acuity.

OPTIC DISK PIT ASSOCIATED WITH AN UNUSUAL OUTER RETINAL HOLE AND NASAL PERIPHERAL RETINOSCHISIS.

PURPOSE: To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole. METHODS: A 41-year-old woman presented to the eye clinic complaining of new photopsias and enlargement of the blind spot in the left eye. Uncorrected visual acuity was 20/20 in both eyes. Fundus examination of the left eye revealed an anomalous appearing optic nerve with a gray oval depression at the temporal margin of the disk consistent with an optic disk pit. RESULTS: Optical coherence tomography confirmed the presence of the pit and demonstrated outer plexiform layer schisis superonasal to the fovea and extensive inner and outer retinal schisis nasal to the nerve extending to the equator. A large lamellar outer retinal hole was noted nasal to the disk without associated retinal detachment. The vitreous appeared to be attached over the nasal retina. CONCLUSION: Multimodal imaging revealed an unusual optic disk pit-associated retinopathy with dramatically more extensive retinoschisis and a lamellar outer retinal hole nasal to the nerve despite the temporal location of the pit. Although the precise pathophysiologic mechanisms are not fully understood, forces associated with the vitreo-retinal adhesion may have contributed to the distribution of the schisis in this case.

Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients.

PURPOSE: To describe the prevalence, distribution, and features of anterior and posterior segment abnormalities in the contralateral eye in cases unilateral of anophthalmia and blind microphthalmia. METHODS: The medical records of patients with unilateral congenital anophthalmia and blind microphthalmia referred to Beijing Tongren Hospital between January 2017 and December 2021 were reviewed retrospectively to investigate the prevalence of abnormalities of the fellow eye. RESULTS: A total of 168 patients were included. Of these, 28 (16.7%) had fellow eye abnormalities, 4 (2.4%) with anterior segment involvement in the contralateral eye. All 28 had fundus abnormalities. The most common posterior segment finding was coloboma (7.7%), followed by optic nerve dysplasia (3.0%), familial exudative vitreoretinopathy (FEVR) or FEVR-like fundus (1.8%), morning glory disk anomaly (1.8%), and retinal nerve fiber layer defect (1.2%). High myopia fundus changes (0.6%), retinal folds (0.6%), maculopathy (0.6%), peripapillary staphyloma (0.6%), and Bergmeister optic disk (0.6%) were also noted. CONCLUSIONS: Patients with unilateral congenital anophthalmia or blind microphthalmia have a high probability of contralateral eye disease. The most common abnormality is coloboma.

A Case of Morning Glory Disc Associated With Unilateral Retinopathy of Prematurity.

Morning glory disc anomaly is associated with serous retinal detachments, high refractive errors, amblyopia, and strabismus. There have been limited reports of an association between morning glory disc and peripheral retinal non-perfusion. The authors report a case of unilateral morning glory disc anomaly associated with markedly asymmetric retinopathy of prematurity. [J Pediatr Ophthalmol Strabismus. 2022;59(5):e55-e57.].

The prevalance of congenital optic disc anomalies in Turkey: a hospital-based study.

PURPOSE: The aim of this study was to investigate the prevalence of congenital optic disc anomalies in Turkey. METHODS: The 11,123 eyes of 5570 patients were screened for optic disc anomalies. All patients were underwent a complete ophthalmic examination including best corrected visual acuity, refraction, spherical equivalent, slit lamp biomicroscopy, intraocular pressure measurements, dilated stereoscopic fundus examination. Data analyses were performed by using SPSS for Windows, version 22.0 (SPSS Inc., Chicago, IL, United States). RESULTS: 11,123 eyes of 5570 participants were screened. Of the 5570 participants who underwent optic disc examination, 246 eyes of 174 patients (3.12%, 95% CIs 2.66-3.58%) had optic disc anormalies. 92 (52.9%) were female, 82 (47.1%) were male and the mean of age was 44.25 ± 15.67 years. 72 (41.4%) patients were bilateral, 102 (58.6%) patients were unilateral involvement. The tilted disc was the most common anomaly and was found at least one eye in 46 patients (75 eyes) and 0.83% of all screened patients. Peripapillary myelinated nerve fibers was the second common anomaly and was found at least one eye in 31 subjects (35 eyes) and 0.56% of all screened subjects. Peripapillary atrophy was the third common anomaly, and was found in at least one eye in 24 patients (37 eyes) and 0.43% of all screened subjects. CONCLUSION: To our knowledge, this is the first study that the prevalences of all congenital optic disc anomalies from Turkey. The prevalence of congenital optic disc anomalies is higher than in other countries.

Superior segmental optic nerve hypoplasia: A review.

Superior segmental optic nerve hypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of the superior optic disc and an underappreciated differential diagnosis for glaucoma. The reported prevalence is less than 1%, although likely underestimated due to the difficulties with diagnosis. The exact pathophysiology of SSONH remains elusive, but a mechanism involving developmental attrition of retinal ganglion cells has been proposed, and maternal diabetes is recognized as a major risk factor. SSONH often is observed incidentally, and the patients typically are then evaluated for an acquired optic atrophy, often glaucoma because of the presence of inferior visual field defects. There are 4 characteristic signs of SSONH: superior entrance of the central retinal artery, superior disc pallor, superior peripapillary halo, and thinning of the superior peripapillary nerve fiber layer; however, the presence of these signs is variable. Optical coherence tomography can be helpful in distinguishing SSONH by demonstrating superonasal retinal nerve fiber layer thinning, as compared to the inferotemporal thinning seen in glaucoma, and an aberrant extension of retinal pigment epithelium over Bruch membrane. Overall, the prognosis of SSONH is favorable, with a non-progressive course. It is essential that ophthalmologists recognize and differentiate SSONH from glaucoma to avoid misdiagnosis and unnecessary treatment.

Case Report: Bilateral Cecocentral Visual Field Defect Secondary to Congenital Optic Disc Pit.

SIGNIFICANCE: Congenital optic disc pits are known to cause complications, commonly maculopathy due to retinoschisis and/or neurosensory retinal detachment. Retinal nerve fiber layer defects with associated visual field defects without maculopathy are another complication and can result in decreased visual function but have rarely been reported in the literature, especially bilaterally. PURPOSE: This case report describes a patient with bilateral cecocentral visual field defects due to congenital optic nerve pits without associated maculopathy. CASE REPORT: A 42-year-old Black man presented with blur symptoms at near uncorrected. Of note, there was no history of substance abuse or nutritional deficiencies. Best-corrected acuities were 20/20 in the right eye and 20/30 in the left eye. Clinical examination revealed bilateral focal grayish depression of the temporal optic nerve cup with associated papillomacular retinal nerve fiber layer defects. Optical coherence tomography (OCT) imaging revealed bilateral focal excavation of the temporal cup, temporal thinning of the retinal nerve fiber layer, and correlated binasal thinning of the ganglion cell complex, in the absence of retinoschisis or neurosensory detachment. Threshold visual field testing revealed stable bilateral cecocentral visual field defects. A diagnosis of bilateral cecocentral visual field defect secondary to congenital optic disc pits was made based on the patient's history and clinical examination. CONCLUSIONS: A cecocentral visual field defect, unrelated to maculopathy, is a less common complication of congential optic disc pits that can cause decreased visual function. This case report provides evidence of this bilateral ocular condition and reviews the reported clinical, OCT, and threshold visual field manifestations of the disease. Specifically, spectral-domain OCT ganglion cell analysis seems useful in localizing the visual field defect.

BILATERAL SEROUS CHORIORETINOPATHY AND PIGMENTARY GLAUCOMA - WHAT IS THE ASSOCIATION?

We present a patient with concurrent pigmentary glaucoma, bilateral central serous chorioretinopathy and unilateral optic disc pit, and propose a possible association of these conditions. Comprehensive ophthalmic examination of a 36-year-old man who was complaining of blurry vision and pain in the eyes showed reduced visual acuity on the left eye, elevated intraocular pressure in the right eye, bilateral signs of pigment dispersion syndrome, and bilateral central serous chorioretinopathy, combined with optic disc pit in the left eye. Visual field and optical coherence tomography findings demonstrated functional and structural glaucoma changes. Choroidal circulation abnormalities were observed by angiographic methods. Genetic and developmental anomalies of the external layer of the optic disc cup that gives rise to many anterior and posterior eye segment structures suggest a possible association of a clinical condition characterized by the combination of pigmentary glaucoma, central serous chorioretinopathy and optic disc pit. Future research would enable to determine proper diagnostic protocols, treatment and follow-up procedures for this chronic-progressive disorder.