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 Table of Contents  
Year : 2022  |  Volume : 10  |  Issue : 2  |  Page : 72-75

Double macular hole with gyrate atrophy: A long-term postoperative follow-up

1 Department Of Ophthalmology, Bharati Vidyapeeth (Deemed to be University) Medical College and Hospital, Sangli; Emerald Eye Hospital, Pune, Maharashtra, India
2 Department Of Ophthalmology, Bharati Vidyapeeth (Deemed to be University) Medical College and Hospital, Sangli, Maharashtra, India

Date of Submission04-Oct-2021
Date of Decision14-Feb-2022
Date of Acceptance21-Feb-2022
Date of Web Publication18-Jul-2022

Correspondence Address:
Paurnima Ulhas Bodhankar
Bharati Vidyapeeth (Deemed to be University) Medical College and Hospital, Sangli, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcor.jcor_142_21

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A 55-year-old female presented with diminution of vision, night blindness, and gyrate atrophy with “double macular hole” in the left eye. Spectral-domain optical coherence tomography of the left eye showed coexisting full thickness and lamellar macular hole with both eyes intraretinal schisis and thin epiretinal membrane. After electroretinography and biochemical confirmation of gyrate atrophy, along with arginine-restricted diet, left eye surgery was advised. Postoperatively complete closure of double hole with the resolution of schisis was achieved. However, at subsequent follow-up visits, significant recurrence of intraretinal schisis was noted due to the continued toxic effect of hyperornithinemia on inner retinal layers and retinal pigment epithelium, highlighting the need for effective future treatment options.

Keywords: Double macular hole, gyrate atrophy, intraretinal schisis, optical coherence tomography

How to cite this article:
Bodhankar PU, Joshi AK, Patil AN. Double macular hole with gyrate atrophy: A long-term postoperative follow-up. J Clin Ophthalmol Res 2022;10:72-5

How to cite this URL:
Bodhankar PU, Joshi AK, Patil AN. Double macular hole with gyrate atrophy: A long-term postoperative follow-up. J Clin Ophthalmol Res [serial online] 2022 [cited 2022 Aug 17];10:72-5. Available from: https://www.jcor.in/text.asp?2022/10/2/72/351291

Gyrate atrophy (GA) is a rare autosomal recessive inborn error of amino acid metabolism caused by mutation in the gene encoding the ornithine aminotransferase with an onset in early childhood. Ocular manifestations include axial myopia, posterior subcapsular cataract, and typical well-demarcated circumferential patches of chorioretinal atrophy with scalloped margins.[1] Macular manifestations such as cystoid macular edema, epiretinal membrane (ERM),[2] foveoschisis,[3] and macular hole[4] may also accompany chorioretinal atrophic lesions.

Bilateral macular hole in gyrate atrophy has been reported as one of the rare macular manifestations in early childhood. Here, we present long-term follow-up of an interesting case of a 55-year-old female with gyrate atrophy and “double macular hole,” which, to the best of our knowledge, has not been described in the literature.

  Case Report Top

A 55-year-old female presented with complaints of diminution of vision in the left eye more than the right eye with night blindness for the past 6 months. On examination, the best-corrected visual acuity (BCVA) in the right eye was 6/36, N18, and the left eye was counting finger 1 m. Slit-lamp biomicroscopy showed bilateral posterior subcapsular cataract. Both eyes fundus showed characteristic chorioretinal atrophy with scalloped margin in peripheral and midperipheral area with preserved island of the retina at macula [Figure 1]a and [Figure 1]b. Interestingly, the left eye fundus showed a double macular hole with both eyes thin ERM [Figure 1]c and [Figure 1]d.
Figure 1: (a and b) Ultrawide field imaging (Optos) of both eyes shows typical fundus picture of gyrate atrophy of the choroid and retina. (c and d) Both eye foveal sections. The left eye shows a double macular hole (white arrow and arrowhead). (e and f) both eyes intraretinal schisis and Grade 1 epiretinal membrane with the left eye full-thickness macular hole

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Both eyes wide-field imaging showed a characteristic gyrate atrophy. On spectral-domain optical coherence tomography (SD-OCT) a large full-thickness macular hole (FTMH) with minimum diameter of 603 μm was noted; both eyes OCT also showed grade one ERM with intraretinal schisis [Figure 1]e and [Figure 1]f. Interestingly, B-scan OCT section through clinically visible double macular hole showed coexisting large FTMH and lamellar hole in “reverse inverted comma” configuration [Figure 2]a. Preoperatively along with routine examination, serum, ornithine, and electroretinography were advised to confirm the clinical diagnosis of gyrate atrophy. The plasma ornithine levels were raised (750 μmol/l). Flash electroretinography revealed extinguished responses in both eyes [Figure 3]. The patient was then counseled and started on ornithine-restricted diet by the physician which includes low protein and low arginine (precursor of ornithine) containing food products such as dairy items, nuts, meat, and grains high on arginine content with pyridoxine supplementation (15 mg/day) and the patient underwent vitrectomy, internal limiting membrane peeling with inverse flap and C3F8 gas tamponade.
Figure 2: (a) B-scan spectral-domain optical coherence tomography section through clinically visible double macular hole shows coexisting large full-thickness macular hole and lamellar hole in “reverse inverted comma” configuration. (b-f) Postoperative spectral-domain optical coherence tomography show complete hole closure with the resolution of intraretinal schisis with subsequent recurrence of schisis over 24 months (white arrows)

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Figure 3: Preoperative flash electroretinography showing extinguished responses in both eyes

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At 1-month postoperative follow-up visit, the left eye showed improvement in BCVA to counting fingers 3 m. SD-OCT showed complete closure of double macular hole with the resolution of intraretinal schisis [Figure 2]b. The hole closure was maintained throughout the follow-up period. However, at subsequent follow-up visits till 24 months, the left eye OCT showed significant recurrence of intraretinal schisis [Figure 2]c, [Figure 2]d, [Figure 2]e, [Figure 2]f. During this follow-up period, the right eye OCT showed grade one ERM with mild progression of intraretinal schisis at the last follow-up visit.

At 6-month follow-up visit, repeat plasma ornithine levels were significantly reduced to 50 μmol/l with advised dietary control. However, at the last follow-up visit, the levels again raised to 700 μmol/l. This could be explained by noncompliance to ornithine restricted diet.

  Discussion Top

Gyrate atrophy is characterized by sharply demarcated circular or oval areas of chorioretinal atrophy in the periphery and midperiphery of the fundus which are initially separate and coalesce together as the disease progresses. The initial lesion is located on the retinal pigment epithelium causing atrophy of the photoreceptors.[5],[6] In GA, gradual blurring of peripheral vision starts in the first decade of life with night blindness and becomes severe with central vision involvement in the fourth or fifth decades of life.

The macular complications usually manifest by the second or third decades. The macular hole is a rare macular manifestation of GA. The pathogenesis of macular holes may include pathological myopia, vitreomacular traction, coalescence, and un-roofing of foveal cysts, contraction of premacular vitreous cortex, and posterior vitreous detachment.[7] In GA, deficiency of essential products or toxicity of the accumulated excessive substrates causes disturbed regulation of the fluid balance between the intracellular and extracellular environment, this alteration of fluid balance leads to cystoid macular edema or cystic spaces in the macula which causes disruption of the organized retinal layers and subsequent macular hole formation.[3],[4] However, the exact pathogenesis of the macular hole in gyrate atrophy is unclear and has guarded postoperative functional and structural outcomes. Sharma et al. first reported a 28-year-old male with bilateral FTMH in gyrate atrophy; however, the patient declined surgical intervention.[4] The same authors also have reported a case of a 45-year-old female with gyrate atrophy and FTMH in which postoperatively closure could not be achieved.[8] Parameswarappa and Agarwal reported a similar case of bilateral lamellar macular hole which showed closed hole in one eye and closing hole in another eye postoperatively.[9]

Our patient presented with decreased vision, night blindness, and gyrate atrophy with ERM, intraretinal schisis, and unique presentation of double macular hole in the fifth decade. Unlike previously published case by Sharma et al., where hole closure could not be achieved and case by Parameswarappa and Agarwal, where the left eye with FTMH due to gyrate atrophy could show a closing hole with follow-up of 8 months, in our case, the complete hole closure is seen in immediate postoperative period which is maintained at all follow-up visits till 24 months. However, significant recurrence of previously resolved intraretinal schisis is noted on long-term follow-up. To our knowledge, this is the first case which shows “double macular hole” as a late macular manifestation in GA, maintaining successful hole closure throughout the follow-up period with recurrence of schisis due to persistence of underlying pathology on SD-OCT.

In conclusion, this case highlights the importance of understanding underlying pathophysiology of macular holes in GA. The double macular hole, in this case, is due to probable direct retinal toxicity or deroofing of cystoid spaces. Surgical intervention can achieve hole closure and resolution of intraretinal schisis similar to idiopathic FTMH; however, long-term follow-up interestingly shows recurrence of intraretinal schisis due to the persistent toxic effect of hyperornithinemia. Therefore, comprehensive understanding of the underlying factors will provide insight on better and more effective treatment options.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Potter MJ, Berson EL. Diagnosis and treatment of gyrate atrophy. Int Ophthalmol Clin 1993;33:229-36.  Back to cited text no. 1
Feldman RB, Mayo SS, Robertson DM, Jones JD, Rostvold JA. Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retina. Retina 1989;9:139-42.  Back to cited text no. 2
Zhioua Braham I, Ammous I, Maalej R, Boukari M, Mili Boussen I, Errais K, et al. Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: A family report. BMC Ophthalmol 2018;18:89.  Back to cited text no. 3
Sharma YR, Singh DV, Azad RV, Pal N. Gyrate atrophy with bilateral full thickness macular hole. Eye (Lond) 2006;20:745-7.  Back to cited text no. 4
Kaiser-Kupfer MI, Ludwig IH, de Monasterio FM, Valle D, Krieger I. Gyrate atrophy of the choroid and retina. Early findings. Ophthalmology 1985;92:394-401.  Back to cited text no. 5
Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology 2012;119:596-605.  Back to cited text no. 6
Gaudric A, Tadayoni R. Macular hole. In: Ryan SJ, editor. Retina. 5th ed. London, UK: Saunders/Elsevier; 2013. p. 1962-78.  Back to cited text no. 7
Tripathy K, Sharma YR, Chawla R, Jain S, Behera A. Ultra-wide field imaging of an operated macular hole in gyrate atrophy. J Ophthalmic Vis Res 2016;11:336-7.  Back to cited text no. 8
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Parameswarappa DC, Agarwal K. Bilateral macular hole in gyrate atrophy: A rare association. Indian J Ophthalmol 2020;68:652.  Back to cited text no. 9
[PUBMED]  [Full text]  


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