Optic disc pit maculopathy: a review of diagnosis and treatment

Optic disc pit is a rare congenital defect which appears as a circumscribed greyish depression in the lamina cribrosa. Serous macular detachment is one of the most visually debilitating complications of optic disc pit, affecting 25–75 per cent of patients. Although there is a wide variety of treatment modalities available with varying degrees of success, there is yet no consensus in the optimal management of optic disc pit-associated maculopathy. This review discusses the literature on the pathogenesis, clinical presentation, diagnosis and treatment options.     

Optic pit maculopathy after laser-assisted in situ keratomileusis

CASE REPORT: Optic disc pit is an embryological malformation of the optic nerve that occurs in less than one in 10,000 people. It is 10%-15% bilateral, and 25% to 70% of patients develop a neurosensory macular detachment within the 2nd to 4th decade. COMMENTS: We report a case of unilateral optic disc pit maculopathy 2 months after laser-assisted in situ keratomileusis (LASIK) revision.     

Optic disk pits and optic disk pit maculopathy: A review

Optic disk pit, one of the optic disk cavitary anomalies, is generally congenital and unilateral and occurs equally in males and females. Optic disk pit maculopathy is characterized by intraretinal and subretinal fluid at the macula, causing visual deterioration. The origin of the macular fluid and the mechanism of transition to the subretinal space in optic disk pit maculopathy pathophysiology are not yet fully understood. With the evolution of imaging modalities, especially optic coherence tomography, our knowledge of this disorder continues to increase. Although many different treatments have been tried, there is no consensus on the most effective.     

Comparative findings in childhood‐onset versus adult‐onset optic disc pit maculopathy

Purpose: To compare the clinical characteristics of eyes with childhood‐onset to those with adult‐onset optic disc pit maculopathy. Methods: Twenty‐seven eyes of 25 patients with optic disc pit maculopathy were reviewed. The clinical characteristics, clinical history including a history of blunt trauma, ophthalmoscopic evaluations and intraoperative findings in the childhood‐onset (age <15 years, four eyes of four patients) cases were compared with those in the adult‐onset (≥15 years, 23 eyes of 21 patients) cases of optic disc pit maculopathy. The strength of the vitreous adhesions was graded by what was required to create a posterior vitreous detachment (PVD); grade 1 = with vitreous cutter, grade 2 = by microhook or forceps and grade 3 = by forceps with removal of remnants of Cloquet’s canal. Results: The incidence of visual impairments following blunt trauma was significantly higher in childhood‐onset (three of four eyes) than that of adult‐onset (0 of 23 eyes, p = 0.0014). Vitreous surgery with creation of a PVD was performed in the four childhood‐onset eyes and 18 adult‐onset eyes after an absence of a spontaneous resolution. The grade of the vitreous adhesions was significantly higher in childhood‐onset than in adult‐onset eyes (p = 0.0096). Conclusions: An ocular trauma may provide an opportunity to detect optic disc pits. However, childhood‐onset optic disc pit maculopathy was noted most commonly following blunt ocular trauma in eyes with a strong vitreous adhesion to the optic disc margin.     

Minimal gauge vitrectomy for optic disc pit maculopathy: Our results

The purpose of the study was to describe the surgical technique and clinical outcomes of pars plana vitrectomy without laser or gas tamponade in cases with optic disc pit maculopathy at our centre. Six eyes of six consecutive patients presenting with unilateral optic disc pit maculopathy were enrolled. Preoperative optical coherence tomography (OCT) was performed to determine the presence and extent of schisis and macular detachment. All eyes underwent 23-gauge pars plana vitrectomy with induction of posterior vitreous detachment (PVD) and internal limiting membrane (ILM) peeling and eyes were closed under fluid. Patients were followed up for at least 12 months post-surgery. Median age of patients was 22.5 years. Five of six eyes had neurosensory detachment (NSD) at the presentation; whereas, inner layer schisis was present in all patients. None of the patients had any evidence of vitreomacular or vitreopapillary adhesion or PVD either clinically or on OCT. Inner and outer retinal schisis resolved in all eyes after follow-up of at least 6 months. Resolution of subretinal fluid in eyes with NSD was seen in 4 of 5 eyes. There was a significant visual acuity improvement from mean preoperative visual acuity of 0.79 logarithm of the minimum angle of resolution (logMAR) units to 0.36 logMAR units at 12 months (P = 0.001). Thus, vitrectomy with ILM peeling and PVD induction alone could achieve good functional outcomes in cases with optic disc pit maculopathy.     

先天性视盘小凹并发黄斑病变的形态学特征

目的研究先天性视盘小凹并发黄斑病变的形态学特征及其在病程发展和激光治疗后的变化情况。设计回顾性病例系列。研究对象12例先天性视盘小凹合并黄斑病变患者。方法对临床诊断为先天性视盘小凹的患者资料进行回顾性分析,依据彩色眼底照相、相干光断层扫描及荧光素眼底血管造影检查结果结合既往有关小凹发病机制的理论进行分析归纳。对其中4例进行沿小凹区域的视盘边缘光凝治疗,观察期6—30个月。主要指标视力及黄斑病变特征。结果12例患者均合并浆液性黄斑病变,其中2例为单纯神经上皮脱离,2例为单纯神经上皮层间劈裂,其余两者兼有。病变区与小凹之间存在明确关联关系,病变程度与病程及视力也相关。2例合并先天性脉络膜缺损。3例激光治疗有效。结论视网膜神经上皮层间劈裂和神经上皮脱离是先天性视盘小凹合并黄斑病变的重要形态学改变,正确认识其与病程发展的关系有助于加深对发病机制的认识。激光治疗对部分患者有效。（眼科,2009,18：233—236）     

Optical coherence tomography of pneumatic displacement of optic disc pit maculopathy

BACKGROUND—The authors have previously concluded that fluid from an optic disc pit creates an inner layer separation (ILS) of the retina. An outer layer detachment (OLD) centred on the macula is a secondary phenomenon that causes a dense central scotoma. Pneumatic displacement of the OLD effects an improvement in central vision. Pathology to confirm these conclusions is lacking. Intraretinal images obtained by optical coherence tomography (OCT), however, are confirmatory.
METHODS—Three patients with optic disc pit maculopathy were studied with stereoscopic photographs, visual fields, and OCT before and after intravitreal gas was injected to displace the central retinal elevation to below the inferior temporal vascular arcade.
RESULTS—Preoperatively, OCT demonstrated an ILS that connected with the optic disc pit. External to it was an OLD that centred on the fovea and did not connect with the optic disc pit. Pneumatic displacement of the OLD was accompanied by an improvement in central vision. Long term follow up indicates that the effect of displacement may be temporary.
CONCLUSION—OCT confirmed the two layer structure of optic disc pit maculopathy and that the improvement in central vision after pneumatic displacement coincides with a reattachment of the OLD in the macula. It also supports the hypothesis that the ILS, which persists, provides a conduit for the continuous flow of fluid from the pit to the displaced retinal elevation.

Keywords: optical coherence tomography; optic disc pit maculopathy; intraocular gas; retinoschisis     

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Background: Optic disc pit is a very rare clinical entity. The main complication of this condition is the maculopathy.

Report of cases: A 40-year-old Caucasian man and his 6-year-old daughter underwent a complete ophthalmological examination. In both cases ophthalmoscopy examination showed a bilateral white-yellow oval depression in the optic disc. Optical coherence tomography showed maculopathy with different degrees of severity in the two cases. Microperimetry and multifocal-electroretinography showed different degrees of retinal dysfunction in both cases. Molecular genetic analysis was performed and the possible pathogenic role of the MIR204 gene was excluded.

Discussion: The findings of our familial cases support the hypothesis that optic disc pit associated with maculopathy could be a genetic disease with an autosomal dominant inheritance pattern. Optical coherence tomography is the most helpful diagnostic tool to assess maculopathy associated with optic disc pit. Microperimetry and multifocal-electroretinography are useful for the diagnosis of macular dysfunction in the early stages, and for the prognosis and follow-up of optic disc pit-maculopathy which is the main cause of visual impairment in these patients. Furthermore, in consideration of the variable expressivity and disease severity reported in our cases, genetic anticipation may be hypothesized.     

Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.     

Infrared and fundus autofluorescence imaging in eyes with optic disc pit maculopathy

Background: To characterize the infrared (IR) and fundus autofluorescence (FAF) images of eyes with optic disc pit maculopathy. Methods: A retrospective non‐comparative study of three patients with optic disc pit maculopathy who were followed by optical coherence tomography (OCT) and retinal angiography (Heidelberg retina angiograph 2) before and after vitreous surgery without laser photocoagulation. Results: The areas of serous retinal detachment and inner retinal schisis were dark in the IR and FAF images preoperatively; and they changed to brighter areas following reattachment of the retina. There was an increase in the granular hyperfluorescence in the FAF images accompanied by an increase in the number of subretinal precipitates. OCT showed a thickening of the photoreceptor outer segments. The outer retinal layer defect initially appeared bright in the IR images and hypofluorescent or hyperfluorescent in the FAF images. The outer retinal layer defect became larger with a reduction of the outer retinal schisis and increased retinal detachment, but then became smaller with the resolution of the retinal detachment. All cases had a resolution or reduction of the retinal detachment and retinal schisis after the vitrectomy. Conclusion: The IR and FAF images in eyes with optic disc pit maculopathy reflect the changes in the inner and outer retinal layers corresponding with the stage of recovery of the disease.     

Optic disc pit: primary diagnosis in a child

Congenital abnormalities of the optic nerve head are commonly detected by optometrists in practice. While some severe abnormalities can lead to poor visual acuity and are associated with other ocular and systemic disorders, others such as pits of the optic disc are predominantly benign with a latent risk of visual loss. This report details the primary diagnosis of unilateral optic disc pit in a seven‐year‐old patient.     

Long-term outcomes of pars plana vitrectomy without internal limiting membrane peeling for optic disc pit maculopathy

Purpose

To evaluate the results of surgical treatment of maculopathy secondary to congenital optic pit anomaly with pars plana vitrectomy (PPV), endolaser to the temporal edge of the optic disc and C3F8 tamponade without internal limiting membrane (ILM) peeling.

Patients and methods

Thirteen eyes of 12 patients with serous macular detachment and/or macular retinoschisis secondary to congenital optic disc pit (ODP) were included in the study. All eyes underwent PPV, posterior hyaloid removal, endolaser photocoagulation on the temporal margin of the optic disc and 12% C3F8 gas tamponade. Anatomic success and functional outcome determined retrospectively by optical coherence tomography and measurement of best corrected visual acuity (BCVA), respectively were the main outcome parameters.

Results

Two lines or more improvement in BCVA was obtained in 11 eyes and 6 of these eyes had 20/40 or better BCVA at the final visit. Subretinal or intraretinal fluid was completely resorbed postoperatively in 12 eyes but a little intraretinal fluid persisted in one eye at the 16-month follow-up. Better visual improvement was observed in patients treated by earlier surgical intervention.

Conclusion

PPV, C3F8 gas tamponade and endolaser to the optic disc margin without ILM peeling may yield favourable results in the treatment of ODP maculopathy.     

Papilledema and optic disc pit: The association of two pathologies in one patient

Histologically, optic disc pit (ODP) is described as a small congenital defect in the cribriform plate where a herniation of the dysplastic retina extends to the subarachnoid space in the optic nerve, which is surrounded by a layer of collagen-rich tissue.Approximately 25–75% of cases are complicated by optic disc pit maculopathy (ODPM). The pathogenesis of maculopathies associated with ODP has not been fully elucidated.We present an unusual case of a patient with a history of papilledema secondary to a fronto-temporal meningioma. The patient underwent a successful surgical intervention with resolution of the papilledema 15 years before the detection of an ODP that was associated with retinal detachment in the macular region.Several studies have reported on the importance of intracranial pressure in the development of maculopathies associated with ODP. During the period of intracranial hypertension and papilledema in our patient, the hernia sac that was associated with ODP may have been small, which would have decreased the chances of developing a maculopathy that was associated with OPD.     

Optical coherence tomography findings and retinal changes after vitrectomy for optic disc pit maculopathy

Purpose:

To study the optical coherence tomography (OCT) patterns in optic disc pit maculopathy and retinal changes after vitreous surgery.

Materials and Methods:

Retrospective review of consecutive cases with optic disc pit maculopathy seen at two tertiary eye institutes from January 2005 to June 2009.

Results:

Twenty-four eyes of 23 patients are included. The presenting visual acuity ranged from 20/400 to 20/20 (median:20/80). The median age at presentation was 24 years (range, 6-57 years). Optical coherence tomography demonstrated a combination of retinoschisis and outer layer detachment (OLD) in 19 (79.17%) eyes, OLD only in 3 (12.5%) eyes and retinoschisis only in 2 (8.33%) eyes. An obvious communication (outer layer hole) between the schisis and OLD was seen in 14 (73.68%) of the 19 eyes with both features. Of the 21 eyes with retinoschisis, schisis was present in multiple layers in 15 (71.43%) and single layer in 6 (28.57%) eyes. Eleven eyes underwent pars plana vitrectomy including creation of posterior vitreous detachment (PVD), fluid-air exchange, low intensity laser photocoagulation at the temporal edge of the optic disc pit and non-expansile perfluoropropane gas (14%) injection. Five (45.45%) of 11 eyes undergoing vitrectomy had complete resolution and 4 (36.36%) eyes had partial resolution of maculopathy. Visual acuity improved in 8 (72.72%) of 11 eyes.

Conclusion:

Optical coherence tomography demonstrates multiple layer schisis and outer layer detachment as main features of optic disc pit maculopathy. Vitrectomy with PVD induction, laser photocoagulation and gas tamponade results in anatomical and visual improvement in most cases with optic disc pit maculopathy.     

Retinal tomographic measurements in optic disc pit

Background: The aim was to assess the Heidelberg Retina Tomograph II measurements in optic disc pit. Methods: The study included 10 patients with a unilateral optic disc pit. The patients had no other ocular conditions except refractive errors. Normal fellow eyes of the patients were used as a control group. Optic nerve head topographic analyses were performed using a confocal scanning laser ophthalmoscope, Heidelberg Retina Tomograph II (HRT II). Results: The topographic parameters of the eyes with optic disc pit and normal fellow eyes were as follows, respectively: disc area (3.77 ± 1.50 and 3.07 ± 0.83 mm²), cup area (1.99 ± 1.71 and 1.09 ± 0.54 mm²), rim area (1.67 ± 0.55 and 1.87 ± 0.75 mm²), cup volume (0.94 ± 1.24 and 0.34 ± 0.27 mm³), rim volume (0.51 ± 0.40 and 0.55 ± 0.19 mm³), mean cup depth (0.44 ± 0.20 and 0.31 ± 0.11 mm) and mean retinal nerve fibre layer thickness (0.25 ± 0.20 and 0.28 ± 0.59 mm). Eyes with an optic disc pit were found to have significantly larger disc area compared to fellow eyes (p = 0.038). All the other parameters showed no statistically significant interocular differences (p > 0.05). Conclusion: Our study demonstrates that the optic disc pit affects only the disc area measurement in HRT II. Other changes in optic nerve head morphometric parameters were insignificant. The clinician must be careful in the evaluation of HRT II results with respect to optic disc area in a disc with a pit.     

Optic disc morphology in pigmentary glaucoma

AIM—To evaluate the morphology of the optic nerve head in eyes with pigmentary glaucoma.
METHODS—Colour stereo optic disc photographs of 62 patients with pigmentary glaucoma and 566 patients with primary open angle glaucoma were morphometrically evaluated. By prestudy selection, mean visual field defect and neuroretinal rim area were not significantly different between the two groups (p=0.89 and p=0.45).
RESULTS—The pigmentary glaucoma group did not vary significantly (p >0.10) from the primary open angle glaucoma group in size and shape of the optic disc, configuration of neuroretinal rim, depth of optic cup, area of alpha zone of parapapillary atrophy, diameter of retinal vessels at the disc border, and frequency of disc haemorrhages and localised retinal nerve fibre layer defects. The beta zone of parapapillary atrophy was slightly, but not statistically significantly (p=0.06), smaller in the pigmentary glaucoma group. The mean maximal intraocular pressure and mean intraocular pressure amplitude were significantly (p<0.001) higher in the pigmentary glaucoma group.
CONCLUSIONS—In contrast with the characteristic morphology of the anterior segment and despite significantly higher intraocular pressure peaks and a larger pressure amplitude, eyes with pigmentary glaucoma compared with eyes with primary open angle glaucoma do not show a pathognomonic morphology of the optic disc and retinal nerve fibre layer. The slightly smaller beta zone of parapapillary atrophy may correspond to higher intraocular pressure in pigmentary glaucoma.

Keywords: optic disc morphology; pigmentary glaucoma; secondary open angle glaucoma