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An Insight Into the Pathogenesis of Optic Disc Pit–Associated Maculopathy with Enhanced Depth Imaging

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An Insight Into the Pathogenesis of Optic Disc Pit–Associated Maculopathy with Enhanced Depth Imaging Research Brief Report An Insight Into the Pathogenesis of Optic Disc Pit–Associated Maculopathy With Enhanced Depth Imaging Jaitra P. Gowdar, DNB; Bindu Rajesh, MS; Anantharaman Giridhar, MS; Mahesh Gopalakrishnan, MS; Rameez Hussain, MS; Thomas Thachil, MS IMPORTANCE Optic disc pit with associated maculopathy is a known entity. However, controversy exists regarding the source of subretinal fluid in these cases. In our series, we attempted to analyze the morphologic changes seen in the optic disc pit and evaluate the source of subretinal fluid. OBSERVATIONS In this prospective observational case series of 4 patients with optic pit maculopathy, a complete ophthalmic evaluation, with fundus color photography and enhanced depth imaging spectral-domain optical coherence tomography scanning of the optic disc, was carried out between January 2013 and November 2013. The optical coherence tomographic section was mapped with infrared image and color photography, and the characteristics of the retina and optic nerve head were analyzed. All the cases had outer layer retinal schisis; 2 of them had associated serous macular detachment while inner retinal schisis was present in 3 cases. A hyporeflective tract was observed in our study connecting the retinal schisis cavity and gap in the lamina cribrosa corresponding to the optic pit. CONCLUSIONS AND RELEVANCE In our study, we demonstrated the connectivity between retinal schisis and the gap in the lamina cribrosa present in the optic disc pit, supporting the Author Affiliations: Giridhar Eye hypothesis of cerebrospinal fluid as the source of subretinal fluid. Institute, Kerala, India. Corresponding Author: Bindu Rajesh, MS, Giridhar Eye Institute, JAMA Ophthalmol. 2015;133(4):466-469. doi:10.1001/jamaophthalmol.2014.6093 Ponneth Temple Road, Kadavanthra, Published online February 12, 2015. Cochin 682020, Kerala, India ([email protected]). ptic nerve pit is a rare congenital abnormality present- board approval was obtained from Giridhar Eye Institute, ing with excavation of optic nerve head probably aris- Kerala, India. Patient consent was waived because the hospi- O ing as a result of incomplete closure of the superior tal requires only when patients undergo invasive diagnostic end of the embryonic fissure. The prevalence of optic disc pit procedures; this study was observational and included non- was estimated to be 1 in 11 000 by Reis in 1908.1 Although re- invasive fundus photography and OCT. Also, per the Ethical ported earlier, the relation between optic disc pit and macu- Guidelines for Biomedical Research on Human Participants of lopathy was emphasized by Petersen2 in 1958. the Indian Council of Medical Research, the requirement for Gass3 proposed cerebrospinal fluid as the source of fluid informed consent is waived if the research involves minimal whereas Sugar4 suggested liquefied vitreous to be the source. risk to patients and if patients’ privacy is protected. Brown et al5 demonstrated the connection between vitreous Cystoid spaces with intervening septa in the nerve fiber cavity and macular fluid in their experimental study on collie layer and/or ganglion cell layer were defined as inner layer reti- dogs. However, this has not been demonstrated in humans. nal schisis (ILRS) while cystoids in the outer plexiform layer Enhanced depth imaging (EDI) technology of spectral- and/or outer nuclear layer were defined as outer layer retinal domain (SD) optical coherence tomography (OCT)6,7 has been schisis (OLRS). All enrolled patients underwent complete oph- used previously to image the choroid and deeper structures thalmic evaluation. In vivo anatomy of disc and macula was such as the lamina cribrosa and postlaminar structures. In our scanned using SD-OCT (Spectralis, Heidelberg Engineering). study, we tried to assess the morphology of the deeper struc- Scanning was done using 30° retinal windows with a central tures in the optic nerve head pit using the EDI technique. internal fixing light to center the macula and nasal target to cen- ter the disc. The macula was scanned in volume mode with a minimal area of 20° × 15°, density of 240 μm, each line section Methods having 512 A-scans, and with a minimum automatic real time of 9 frames. Enhanced depth imaging mode with a minimum A prospective observational study of consecutive patients with area of 15° × 10°, density of 60 μm, 384 A-scans, and auto- optic disc pit maculopathy was carried out in our institute be- matic real time of 16 frames was selected to scan disc. The mor- tween January 2013 and November 2013. Institutional review phological characteristic of the retina and the prelaminar, lami- 466 JAMA Ophthalmology April 2015 Volume 133, Number 4 (Reprinted) jamaophthalmology.com Copyright 2015 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/30/2021 Optic Disc Pit Maculopathy and Enhanced Depth Imaging Brief Report Research Table. Demographic and Clinical Features of Patients Tract Patient No./Sex/Age, y Eye Visual Acuity Pit Location Maculopathy Connection 1/Female/teens Right 20/80 Temporal SMD+OLRS+ILRS ILRS 2/Male/40s Left 20/60 Temporal SMD+OLRS OLRS Abbreviations: ILRS, inner layer 3/Female/40s Right 20/400 Temporal ILRS+OLRS ILRS retinal schisis; OLRS, outer layer retinal schisis; SMD, serous macular 4/Male/60s Right 20/400 Temporal ILRS+OLRS ILRS detachment. Figure 1. Color Fundus Photograph and Enhanced Depth Imaging of Optic Pit of Cases 1 and 2 A B Glial Prelaminar tissue cavity Tract Lamina cribrosa Optic pit 200 μm C D Optic pit Tract Prelaminar cavity Lamina cribrosa Tract 200 μm Temporally located optic disc pits are visible in both cases (case 1 in panel A; case 2 in panel C). A hyporeflective tract is visualized in both cases connecting the pit to the inner and outer layer schisis in case 1 and 2, respectively (case 1 in panel B; case 2 in panel D). The yellow outlines indicate the boundaries of the lamina cribrosa. nar, and postlaminar areas of the optic disc were analyzed after All eyes revealed temporally located optic disc pits. Outer mapping with color photograph and infrared image. layer schisis was observed in all the eyes, with 3 eyes having additional inner layer schisis. Serous macular detachment (SMD) was seen in only 2 eyes. Enhanced depth imaging of the Results optic disc revealed a hyporeflective homogenous tract con- necting the disc pit to the retinal schisis—either the ILRS or the A total of 4 patients were included in the study, with a mean OLRSinalltheeyes. age of 41.5 years (range, 13-62 years). The male to female ratio was 1:1. All cases were unilateral on presentation. Mean vi- Report of Cases sual acuity in the affected eye was 0.925 logMAR (Snellen Case 1 equivalent, 20/200). The demographics of the patients are de- A teenaged girl with blurring of vision in the right eye of 2 years’ picted in the Table. duration presented with best-corrected visual acuity (BCVA) jamaophthalmology.com (Reprinted) JAMA Ophthalmology April 2015 Volume 133, Number 4 467 Copyright 2015 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/30/2021 Research Brief Report Optic Disc Pit Maculopathy and Enhanced Depth Imaging of 20/ 80 OD and 20/20 OS. Fundus examination revealed a dirty Case 3 gray oval pit (Figure 1A) with a SMD. Optical coherence tomog- A woman in her 40s with hypothyroidism and defective vi- raphy revealed the presence of a large SMD with both ILRS and sion of 10 years presented with BCVA of 20/400 OD and 20/20 OLRS. Enhanced depth imaging through the pit revealed an OS. Fundus examination of the right eye revealed a temporal abruptly ending hyperreflective lamina cribrosa. The gap in the optic disc pit with macular schisis (Figure 2A). Optical coher- lamina cribrosa appeared to be filled with a heterogeneous re- ence tomography of the macula revealed both ILRS and OLRS. flective lesion suggestive of glial tissue. The connectivity be- Enhanced depth imaging of the optic nerve head revealed a tween the inner layer schisis and the optic disc pit is seen as a heterogeneous reflective lesion filling the pit area. Lamina hyporeflective tract running straight down along the tempo- cribrosa was observed to be slanting and deformed (Figure 2B), ral disc margin (Figure 1B). with the nasal side placed higher than the temporal side. A hy- poreflective cystoid tract was observed from the inner retinal Case 2 layer to a cavity within the optic disc, extending through the A man in his 40s with BCVA of 20/20 OD and 20/120 OS re- defect in lamina cribrosa. vealed a temporal optic disc pit (Figure 1C) with a large SMD in the left eye. Optical coherence tomographic imaging of the Case 4 macula revealed an OLRS with a SMD. Enhanced depth imaging A man in his 60s with defective vision in the right eye of 3 years’ of the optic disc revealed a deep cup and a pit with deeply duration presented with BCVA of 20/400 OD and 20/30 OS. Op- placed lamina cribrosa (Figure 1D). A hyporeflective homog- tic disc pit and macular schisis visible clinically were con- enous tract is visible at the temporal aspect connecting a firmed on OCT (Figure 2C). Enhanced depth imaging reveal- prelaminar cavity to the OLRS. ing a heterogeneous reflective lesion filling the optic pit. A thin Figure 2. Color Fundus Photograph and Enhanced Depth Imaging of Optic Pit of Cases 3 and 4 A B Prelaminar cavity Glial tissue Lamina cribrosa Optic pit Tract 200 μm C D Glial Inner layer schisis tissue Optic pit Tract Lamina cribrosa 200 μm A slanting and deformed lamina cribrosa is visible in case 3 (B), with both cases revealing a temporal cystoid tract extending from the inner retinal layertoacavity within the optic disc to a defect in the lamina cribrosa.
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