Optical coherence tomographic features in a case of bilateral macular coloboma with strabismus

 Purpose:To report the optical coherence tomography (OCT) findings in a patient with bilateral macular coloboma with strabismus. Methods:A 21-year-old male presented with macular coloboma in both eyes.Fundus photography, fundus fluorescence angiography (FFA) and OCT were performed. Results:Color fundus photography showed a sharply-demarcated, round macular defect, approximately 4×4 disc diameters with bare sclera at the base and pigment clumping in both eyes. FFA showed hypofluorescence at the macula corresponding to the size of the lesion bilaterally. OCT revealed a crater-like depression at the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium (RPE) and choroid in the lesion. Conclusion:OCT can be a beneficial tool to confirm the diagnosis of macular coloboma.     

Optical coherence tomographic finding in a case of macular coloboma

PURPOSE: To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS: A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS: The OCT revealed the crater-like depression in the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium and choroid in the lesion. FA showed hypofluorescence corresponding to the size of the lesion in both early and late frames without leakage of dye at any stage. CONCLUSIONS: The OCT can be beneficial to confirm the diagnosis of macular coloboma.     

先天性黄斑缺损的相干光断层扫描图像分析

目的探讨先天性黄斑缺损的相干光断层扫描（OCT）图像特征,分析OCT对先天性黄斑缺损的诊断价值。方法回顾分析先天性黄斑缺损患者15例（20只眼）的眼底照片和OCT图像特征,进行分析总结。结果（1）OCT可显示后巩膜葡萄肿的范围和程度;（2）缺损区域脉络膜层毛细血管层光带消失;（3）缺损区域视网膜神经上皮层明显变薄,伴有神经上皮内外层间的分离,层间有低反射带;（4）缺损边缘紧密粘连;（5）缺损累及视盘时呈类似青光眼样视盘改变。结论OCT能够显示先天性黄斑缺损患者视网膜细微的形态学改变,结合眼底彩照可对该病进行全面而细致的评估。     

Macula hole as a retinal complication of congenital malformation of optic disk and coloboma choroideae in the same eye (author's transl)

Case report of a 24-year-old woman with combined ocular malformation: bilateral pits in the optic disc and coloboma of choroidea. Complication: macula hole in the colobom-eye. -- Within 3 years preexistent myopia increased 2 dpt in all. Possibly combination of unphysiological retinal traction by coloboma on the one side and axial myopia on the other side is cause of macula hole.     

A Macular Hole in a Female Adult with Bilateral Coats Disease

Purpose:To report a case of a macular hole in a female adult with bilateral Coats disease.Methods:The fundus photograph, fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were performed in two eyes, and observed theirs characters.Results:Fundus photograph showed massive yellowish-white exudation in the temporal midperiphery of both eyes, but the degree was slighter in the right eye. There was 1/3 DD macular hole in left eye. FFA revealed general dilatation of capillaries, multiple aneurysms, and tortuous and closure of vessels in superotemporal midperiphery in both eyes, but the degree was slighter in the right eye. There was a one-third DD round transmitted fluorescence according the macula hole. ICGA revealed that hyperfluorescence of aneurysms in superotemporal midperiphery, the images of aneurysms were more clearly than in FFA. There was a 2/3 DD hypoflurescence of macula in the late phase of angiography.Conclusions: FFA and ICGA have respective advantage in revealing vas     

Heterotopia of the macula (ectopic macula): an unusual presentation

Heterotopia of the macula is a condition in which the macula is displaced markedly from its normal position. Only 40 cases have been reported in the literature. Of those cases more than 90% have occurred in patients presenting with an apparent exotropia (macula displaced temporally), a large positive angle lambda, and an actual esotropia. We report a unique case of heterotopia of the macula in which the patient presented with an apparent esotropia and a large negative angle lambda. This is the only reported case of ectopic macula in which the macula has been dragged nasally toward the disc in association with a suspected retinopathy of prematurity. There have been three other cases of heterotopia of the macula in which the macula was displaced nasally, but these were associated with chorioretinitis.     

Optical coherence tomography in the study of the Goldmann-Favre syndrome

PURPOSE: To report a case of Goldmann-Favre syndrome with special emphasis on the optical coherence tomography findings. METHODS: In a 23-year-old white man with an 8-year history of visual impairment in both eyes and night blindness, vertical and horizontal optical coherence tomography images were obtained through the macula and through the retinoschisis located at the temporal side of the macula. RESULTS: Optical coherence tomography showed in the left eye a clear loss of the inner retinal layer at the fovea and the formation of inner and outer retinal layer holes in the temporally located retinoschisis. The outer retinal layer hole had rolled edges. CONCLUSION: In Goldmann-Favre syndrome, optical coherence tomography demonstrated confluent macular cystoid changes and retinoschisis in both eyes. In the left eye, a lamellar macular hole and retinoschisis with inner retinal layer and outer retinal layer holes were observed. The outer retinal layer hole had rolled edges.     

Displacement of the retina after idiopathic macular hole surgery with different internal limiting membrane peeling patterns

AIM: To explore retinal displacement after surgical treatment for idiopathic macular hole (IMH) with different internal limiting membrane (ILM) peeling patterns. METHODS: Totally 22 eyes from 20 patients with IMH were randomly allocated into two groups, N-T group (11 eyes) and T-N group (11 eyes). For patients in N-T group, ILM was peeled off from nasal to temporal retina. For patients in T-N group, ILM was peeled off from temporal to nasal retina. Preoperative, postoperative 1, 3, and 6mo, autofluorescence fundus images were collected for manual measurement of distances of fixed nasal (N), temporal (T), superior (S), and inferior (I) retinal points (bifurcation or crossing of retinal vessels) around the macula to the optic disc (OD). These were respectively defined as N-OD, T-OD, S-OD, and I-OD. The retinal displacement, macular hole closure rate, and best corrected visual acuity (BCVA) were compared between the two groups after surgery. RESULTS: At postoperative 1, 3, and 6mo, the macula slipped toward the OD, manifested by the decreased T-OD, N-OD, S-OD, and I-OD (P<0.05). No significant difference was found in the T-OD, N-OD, S-OD, and I-OD between N-T group and T-N group. IMH closure rate was 100% both in N-T group and T-N group. There was no significant difference in BCVA between two groups (P<0.05). CONCLUSION: The macula slips toward the OD after successful macular hole surgery. The two different ILM peeling pattern show similar visual outcome and retinal displacement, which means ILM peeling directions are not the influencing factor of postoperative retinal displacement.     

Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome

Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.     

成人Coats病1例

目的：报告成人Coats病1例,并探讨其引起的视网膜病变。方法：病例报告。结果：马来西亚63岁糖尿病患者1例,男,右眼无痛性视力下降1a,视力指数/2英尺,而左眼最佳矫正视力为6/12。右眼眼底表明颞侧后极部出现广泛的视网膜渗出物,可累及黄斑区和鼻侧视盘。异常分布的多区域血管位于黄斑颞侧且呈衰减趋势。眼底荧光血管造影显示,毛细血管扩张在视网膜渗出区域且有荧光素渗漏现象存在。左眼表现正常。根据临床和FFA结果,患者被诊断为成人Coats病,右眼行氩激光光凝治疗。激光后6mo,患者的视力保持在6/120并出现视网膜最小限度的回退。结论：临床和血管造影结果是视网膜毛细血管扩张症的重要诊断依据。渗漏区域激光光凝治疗有利于防止视力丧失。     

Pattern of blood vessels in eyes with coloboma

Background:

Choroidal coloboma, especially with optic disc involvement affects the blood vessel (BV) pattern in the fundus.

Aim:

The aim of this study was to report the observations on the pattern of retinal BVs in eyes with fundus coloboma.

Design:

Retrospective observational study.

Materials and Methods:

Twenty four eyes of 19 patients with fundus coloboma and the disc involvement in the coloboma was classified according to a previous publication.

Results:

Four varieties of BVs were identified in the area of coloboma - BVs that were continuous with those arising from the optic disc; vessels emanating from the floor of coloboma whose continuity with central retinal artery or its branches could be indirectly established; and those emanating from the floor of coloboma whose continuity with central retinal artery could not be established. In addition, extraocular BVs were visible through the thinned sclera. The retinal BVs often traversed the coloboma to reach the normal retina. The disc itself was found to be small and had no physiological cup (if not colobomatous).

Conclusions:

One should be aware of the major BVs transgressing the coloboma while performing relaxing cuts in the intercalary membrane, during the surgery for retinal detachments in eyes with coloboma. Physiological cup is usually absent (when the disc is not colobomatous). Hence, any cupping in such eyes should be viewed with suspicion.     

成人Coats病1例

目的:报告成人Coats病1例,并探讨其引起的视网膜病变。方法:病例报告。结果:马来西亚63岁糖尿病患者1例,男,右眼无痛性视力下降1a,视力指数/2英尺,而左眼最佳矫正视力为6/12。右眼眼底表明颞侧后极部出现广泛的视网膜渗出物,可累及黄斑区和鼻侧视盘。异常分布的多区域血管位于黄斑颞侧且呈衰减趋势。眼底荧光血管造影显示,毛细血管扩张在视网膜渗出区域且有荧光素渗漏现象存在。左眼表现正常。根据临床和FFA结果,患者被诊断为成人Coats病,右眼行氩激光光凝治疗。激光后6mo,患者的视力保持在6/120并出现视网膜最小限度的回退。结论:临床和血管造影结果是视网膜毛细血管扩张症的重要诊断依据。渗漏区域激光光凝治疗有利于防止视力丧失。     

Visual improvement after long-standing central serous macular detachment associated with an optic disc pit

BACKGROUND: Approximately 50% of cases of congenital optic disc pits are associated with serous macular detachment. Long-standing serous detachments (over 1 year) with poor initial presenting acuity are usually associated with cystic degeneration of the macula and loss of pigment from the underlying retinal pigment epithelium, with resultant poor visual outcome. METHODS: A 43-year-old male presented with an optic disc pit and associated serous elevation of the macular region with cystic changes at the fovea. RESULTS: Over the following 2 years, the patient was aware of an improvement in vision, and acuity improved from 1/60 to 6/18 with resolution of subretinal fluid, as evidenced on optical coherence tomography. CONCLUSIONS: We report an unusual case of an optic disc pit associated with a long-standing serous macular detachment that resolved gradually over a 2.5-year period and, despite very poor presenting visual acuity, demonstrated eventual visual recovery.     

Ocular hypotonia and retinal injuries in Steinert disease. Angiographic aspects

The authors study ocular complications, mainly retinal, in three patients with myotonic dystrophy. The association of cataract, ocular hypotony, reticular or butterfly-shaped dystrophy of the macular pigmentary epithelium was observed in all cases. A bibliographical study regarding retinal lesions: clinical aspects (macular lesions and peripheral retinopathy), retinal functions (visual acuity, color sense, dark adaptation, electrophysiological examinations), histopathological aspects with proliferation of peripheral pigmentary epithelium, retinal and choroidal fibrohyalinosis. The authors report vitreous and retinal modifications (disc, macula, retinal vessels, peripheral retinopathy), evolutive aspects, electrophysiological anomalies in order to understand at best Steinert's ocular lesions.     

Unilateral Peters' anomaly with chorioretinal coloboma in the other eye

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.     

Optical coherence tomography study of tilted optic disk associated with macular detachment

Purpose To describe the macular findings by optical coherence tomography in both eyes of a patient with tilted optic disk and visual decrease. Methods A 35-year-old woman with bilateral tilted optic disk and serous macular detachment was examined by slit-lamp biomicroscopy, fluorescein angiography, indocyanine green angiography and optical coherence tomography (OCT). Results Fluorescein angiography demonstrated staining of the temporal rim of the staphyloma adjacent to the optic disk and hyperfluorescence of the diffuse pigmentary changes in the papillomacular area. Leakage points and serous macular detachment were not observed. The existing neurosensory detachment at the fovea became evident only by OCT. Conclusions The existence of subretinal fluid, which became evident only by OCT, supports the view that OCT could further contribute to the study of the asymptomatic pigmentary lesions of the macula that are present in 11% of eyes with tilted optic disk. The reason for the localized macular detachment remains unclear. Dysfunction of the retinal pigment epithelium (RPE) or leakage of the optic disk staphyloma rim could possibly explain the cause of fluid accumulation in the macula.     

Assessing macular pigment from SLO images

PURPOSE: To assess the spectral characteristics and spatial distribution of macular pigment by comparing relative retinal reflectance at four different wavelengths. METHODS: A Rodenstock scanning laser opththalmoscope (SLO) with four spectral beams, 488, 544, 633 and 780 nm, was used to obtain images of the normal macula from five eyes of three normal subjects. The relative spectral reflectance was determined along a horizontal path extending from nasal to temporal retina through the fovea for each image. A comparison of this data provided an indication of the relative density and the actual spatial extent of macular pigmentation. RESULTS: There is an area of hyper-pigmentation obtained from averaging the data from all five eyes that extends from about 6 deg symmetrically into nasal and temporal macula surrounding a small zone of greater hyper-pigmentation that extends about 3 deg on each side of the fovea. The smaller central zone has a relatively high absorption for blue light and is considered to represent macular pigment. The larger less hyper-pigmented zone is considered to represent melanin in the retinal pigment epithelium. CONCLUSION: The circularly symmetrical hyper-pigmented central macula including the yellow macular pigment can be assessed by comparing different spectral images obtained from an SLO.     

“Macular sink hole” with intrachoroidal cavitation in a case of pathological myopia

Intrachoroidal cavitation (ICC) is a morphological feature outlined by optical coherence tomography and is characterized by presence of a hyporeflective space beneath the unaltered retinal pigment epithelium. It can be peripapillary or macular in location. Macular ICCs are reported in both myopic and non-myopic eyes. We report a case of full thickness macular hole with retinal incarceration into the macular ICC in a patient with pathological myopia. The term “Peripapillary sink hole” has been described in the literature. We propose the use of term “Macular sink hole” for our case owing to similar findings in the macula.     

Retinal detachment associated with optic disc colobomas and morning glory syndrome

We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morning glory syndrome. A retrospective review of patients with optic nerve coloboma or morning glory syndrome with associated retinal detachment or retinoschisis was conducted. For five patients (six eyes), we report the clinical findings, spectral domain optical coherence tomography (OCT) imaging, intraoperative findings, and treatment outcomes. OCT scans demonstrate a bilaminar structure of maculopathy, consisting of inner schisis-like changes and outer layer retinal detachment. In most cases, a retinal break was demonstrated within the optic disc defect with three-dimensional OCT imaging. Glial tissue was sometimes observed within the anomalous defect. Vitrectomy and resection of the tractional tissue in these cases produced good anatomical and visual outcomes. Retinal detachment spontaneously resolved in cases where traction was not present. Traction may contribute to the pathogenesis of retinal detachment associated with colobomatous optic disc anomalies, either directly or by creating a secondary retinal break. OCT imaging assists with understanding the contributing factors to retinal detachment in individual cases of colobomatous optic disc anomalies and can thereby assist with determining the most effective approach to management.     

A Case of Retinal Detachment in Colobomatous Macrophthalmos With Microcornea Syndrome

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.