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PHOTO ESSAY
Year : 2021  |  Volume : 59  |  Issue : 1  |  Page : 98-100

Staging and optical coherence tomography characteristics of gyrate atrophy of choroid and retina


Department of Ophthalmology, Lotus Eye Hospital, Salem, Tamil Nadu, India

Date of Submission06-Oct-2020
Date of Acceptance01-Nov-2020
Date of Web Publication27-Mar-2021

Correspondence Address:
Dr. Priya Rasipuram Chandrasekaran
Lotus Eye Hospital, Salem - 636 016, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_152_20

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  Abstract 


This photo essay describes the optical coherence tomography (OCT) characteristics seen in gyrate atrophy (GA). A 39-year-old female presented with decreased night vision and peripheral vision, best-corrected visual acuity of 20/60 N10 and 20/40 N8 in both eyes, respectively. Fundus examination showed large confluent areas of chorioretinal atrophy involving the disc and leaving an annular zone of the normal retina at the macula. OCT of the macula of the right eye showed hyporeflective cystic spaces in the inner retina and epiretinal membrane, and the left eye was normal while that through the GA showed loss of reflectivity from the nerve fiber layer, extensive loss of inner segment/outer segment layer, thinning of inner retinal layers, retinal pigment epithelium, and Bruchs membrane (BM) and increased visibility of large choroidal-like vessels which appear to be in close proximity to the interpreted BM.

Keywords: Gyrate atrophy, optical coherence tomography characteristics, staging


How to cite this article:
Chandrasekaran PR. Staging and optical coherence tomography characteristics of gyrate atrophy of choroid and retina. TNOA J Ophthalmic Sci Res 2021;59:98-100

How to cite this URL:
Chandrasekaran PR. Staging and optical coherence tomography characteristics of gyrate atrophy of choroid and retina. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 May 6];59:98-100. Available from: https://www.tnoajosr.com/text.asp?2021/59/1/98/312295



A 39-year-old female presented with decreased night vision and peripheral vision. Best-corrected visual acuity was 20/60 N10 and 20/40 N8 with posterior subcapsular cataract in both eyes, respectively. Fundus showed confluent areas of chorioretinal atrophy (CRA) with specks of black pigmentation, attenuation of retinal vessels, and a scalloped border at the junction of healthy and unhealthy retinal pigment epithelium (RPE) involving the disc and sparing the macula. Color fundus photo montage [Figure 1] and [Figure 2] using Zeiss Visucam 500 clearly delineates the areas of CRA. Optical coherence tomography (OCT) using cirrhus high definition-OCT through the macula shows hyporeflective spaces in the inner retina and epiretinal membrane (ERM) in the right eye (RE) [Figure 3] and intact retinal layers with the preservation of inner segment/outer segment (IS/OS) layer in the fovea in the left eye and thinning and loss of reflectivity away from fovea [Figure 4]. OCT taken through gyrate atrophy (GA) shows loss of reflectivity of nerve fiber layer (NFL), extensive loss of IS/OS layer, thinning of inner retinal layers, RPE, and Bruchs membrane (BM). Large choroidal vessels in the atrophic region appear to be in close proximity to the interpreted BM [Figure 5]. A diagnosis of Stage 3 GA with CME and ERM in the RE was made.
Figure 1: Color fundus montage of the right eye showing confluent areas of chorioretinal atrophy involving the optic disc with pigmentation and attenuation of retinal vessels and scalloped border at the junction of healthy and unhealthy retinal pigment epithelium leaving an annular area of healthy macula

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Figure 2: Color fundus montage of the left eye showing confluent areas of chorioretinal atrophy involving the optic disc with pigmentation and attenuation of retinal vessels (yellow arrow) and scalloped border at the junction of healthy and unhealthy retinal pigment epithelium leaving an annular area of healthy macula (yellow arrow)

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Figure 3: Optical coherence tomography macula of the right eye showing hyporeflective cystic spaces in the inner retinal layers (yellow arrows) and epiretinal membrane (white arrow)

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Figure 4: Optical coherence tomography macula showing intact inner segment/outer segment layer (yellow arrow) in the center and fading and thinning away from the fovea (yellow arrow)

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Figure 5: Optical coherence tomography through the atrophic area showing loss of reflectivity of nerve fiber layer (yellow arrow), absence of inner segment/outer segment (pink arrow), thinning of inner retinal layers along with retinal pigment epithelium, and Bruchs membrane. The prominence of large choroidal vessels appear to be in close proximity to the line interpreted as Bruchs membrane owing to the absence of reflectivity from the inner choroid and atrophic areas above (blue arrow)

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  Discussion Top


GA is a rare autosomal recessive disease caused by a deficiency of pyridoxine-dependent ornithine ketoacid aminotransferase, leading to hyperornithemia, which in turn exerts its toxic effects on RPE causing progressive CRA, myopia, and PSC.[1] Our staging of Stage 3 GA was consistent with the staging of Takki[2], demonstrating well-defined, fused areas of garland-shaped CRA advancing toward the posterior pole with degeneration of the optic disc and attenuation of retinal vessels and a normal macula. OCT findings of hyporeflective NFL,[3] loss of reflectivity and thinning of IS/OS layer, inner retinal layers, RPE, and BM in GA area are along the lines of Meyer et al.[3] and Sergouniotis et al.[4] Loss of focal hyperreflectivity from the inner choroid gives the appearance of large choroidal-like vessels to be in close proximity to interpreted BM.[4] The possible mechanism of RPE dysfunction or loss leading to disruption of the outer blood-retinal barrier and causing fluid influx has also been described.[4],[5]

Differential Diagnosis of gyrate atrophy and their differentiating features from other chorio-retinal atrophic disorders

  1. Gyrate atrophy – confluent areas of full thickness chorio-retinal atrophy with hyper pigmented margins and a scalloped border between the healthy and unhealthy RPE, mid to far periphery like a garland, bilaterally symmetrical, autosomal recessive disorder due to deficiency of ornithine keto aminotransferase, hyperornithinemia, presenting as nyctalopia in the second decade, central vision preserved till fourth to fifth decade and myopia, posterior subcapsular cataract as associated ocular features.[1],[2]
  2. Retinitis pigmentosa – Triad of arteriolar attenuation, waxy disc pallor and pigmentary changes (hypo or hyper), rod populated mid peripheral fundus, perivascular pigmentation, bilaterally symmetrical, any mode of inheritance, nyctalopia in adolescence, central vision preserved till late, eventually involving the cones and RPE and associated with posterior subcapsular cataract, cystoid mcular edema and myopia.[3],[4]
  3. Choroideremia – well defined areas of centripetally progressing atrophy with underlying visible choroidal vessels and sclera, post equatorial region outside the vascular arcades, peri papillary and para papillary manner, pigment clumping at the level of retinal pigment epithelium, X-linked recessive, starting at the first decade, central vision preserved till fifth decade and associated macular edema, cataract and neovascularization.[5]
  4. Cobble stone degeneration – Flat hypo pigmented areas of chorio-retinal thinning or atrophy, infero- nasal and temporal retinal quadrants, between the equator and ora serrata, prominent choroidal vessels in the area of RPE loss, frequently bilateral, no sex predilection, seen over 20 years of age, myopic eyes and with increasing age.[6]
  5. Myopic degeneration – progressive RPE thinning, tessellated fundus, peripapillary atrophy, myopic tilted disc and associated Fuchs spot, Lacquer cracks, posterior staphyloma, retinal tears and holes, retinal detachment, choroidal neovascular membrane.[7]
  6. HHH (hyperammonemia – hyperornithenemia – hypercitrullinemia) syndrome – Disorder of mitochondrial carrier family affecting the transport of ornithine into the mitochondrial matrix, disabling the recycling of ornithine into urea cycle, predominantly systemic features, rare chorio-retinal atrophy.[8]


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 initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina. Arch Ophthalmol 1991;109:1539-48.  Back to cited text no. 1
    
2.
Takki K. Gyrate atrophy of the choroid and retina associated with hyperornithinaemia, Br J Ophthalmol 1974;58:3.  Back to cited text no. 2
    
3.
Meyer CH, Hoerauf H, Schmidt-Erfurth U, Roider J, Scholz C, Laqua H, et al. Optical coherence tomography and topographic angiography using the example of atrophia gyrate. Ophthalmologe 2000;97:41-6.  Back to cited text no. 3
    
4.
Sergouniotis P, 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. 4
    
5.
Salvatore S, Fishman GA, Genead MA. Major review-treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol 2013;58:560-84.  Back to cited text no. 5
    
6.
Lewis H. Peripheral retinal degenerations and the risk of retinal detachment. Am J Ophthalmol 2003;136:155-60.  Back to cited text no. 6
    
7.
Schachat AP, Wilkinson C, Hinton C, Sadda S, Wiedemann P. Ryan's Retina. 6th ed. London: Elsevier; 2018.  Back to cited text no. 7
    
8.
Camacho JA, Obie C, Biery B. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 1999;22:151-8.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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