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CASE REPORT
Year : 1989  |  Volume : 37  |  Issue : 3  |  Page : 143-145

Gyrate atrophy of the choroid and retina


Dr. R. P. Centre for ophthalmic Sciences, AIIMS, New Delhi - 110 029, India

Correspondence Address:
H K Tewari
Dr. R. P. Centre for ophthalmic Sciences, AIIMS, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


PMID: 2632451

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  Abstract 

A rare case of gyrate atrophy of the choroid and retina is reported in two female siblings. The diagnosis was made on clinical, electrophysiological, angiographic and biochemical features. This possibly is the first documentation of hyperornithemic gyrate atrophy (HOGA) from the Indian subcontinent.

Keywords: Gyrate atrophy, Ornithine, Night blind-ness


How to cite this article:
Verma L, Murthy H, Tewari H K, Khosla P K. Gyrate atrophy of the choroid and retina. Indian J Ophthalmol 1989;37:143-5

How to cite this URL:
Verma L, Murthy H, Tewari H K, Khosla P K. Gyrate atrophy of the choroid and retina. Indian J Ophthalmol [serial online] 1989 [cited 2019 Dec 10];37:143-5. Available from: http://www.ijo.in/text.asp?1989/37/3/143/26066


  Introduction Top


Gyrate atrophy is a rare chorioretinal dystrophy. It was first reported by Cutler and Fuchs in 1895-96 [1],[2] Since then , many cases have been reported in the world literature [3]. To the best of our knowledge, no case has been reported from India. We herein report 2 sisters who were suffering from this rare dystrophy.


  Case report Top


Two siblings (aged 11 years and 9 years) born out of a consanguineous marriage, presented to us with history of progressive night blindness since early childhood. A previous diagnosis of retinitis pigmentosa had been made elsewhere. Poor visual prognosis had been ex­plained and the children had stopped attending their schools. The parents are first cousins. [Figure - 1] and have no ocular complaints. The only other sib, a 5-year-male also did not have any ocular or systemic problem. Skin and medical examination of the patients showed no abnormalities.

On examination, visual acuity was 2/60 OU in the elder sister and 1 /60 OD, and 2/600S in the younger sib. Refraction under 1% cyclopentolate revealed the presence of bilateral compound myopic astigmatism in both sibs. Visual acuity improved to 6/18 OU in the elder sister with - 10.0 OD Sph /-2.0 D Cyl x 90 in the right eye and -10.0 D Sph/-1.0 D Cyl x 140 in the left eye. In the younger sister vision improved to 6/12 OU with -11.0 D Sph/-2.0 D Cyl x 110 OD and -10.0 D Sph/ -1.0 D Cyl x 50 OS. Anterior segment examination was essentially normal except for the presence of posterior subcapsular cataract. Vitreous degeneration in the form of fine fibrillary degeneration with punctiform opacities was present in both sibs. Ophthalmoscopy revealed atrophic choroidal patches with scalloped well defined margins. At some places the atrophic patches were isolated and circular [Figure - 2]a and at other areas, large confluent patches were seen [Figure - 2]b. The elder sib in addition showed minimal pallor of discs, retinal arterio­lar attenuation and a typical pigment clumps in tempo­ral mid-peripheral fundus. The macula was normal in both sibs. Applanation intraocular pressures were normal.

Routine investigations of hemogram, blood sugar, liver function tests and urine analysis were all normal. Elec­troretinogram (ERG) showed an extinguished response in both the sibs. Electrooculogram (EOG) was subnor­mal as were the values of dark adaptation thresholds. Electroencephalography (EEG) of the elder sib picked up generalized epileptiform discharges made up of sharp and slow waves without any localizing or lateral­ising feature. This was superimposed on the back­ground alpha activity. Electroencephalography of the younger sib gave normal recordings. The skull, chest and long bone X-rays were normal. Visual fields chart­ing done on the Goldman perimeter showed concentric limitation of field. Fluorescein angiography showed large choroidal vessels corresponding to ophthalmoscopi­cally visible atrophic areas and the characteristic hyperfluorescence at the borders [Figure - 3]

The patients have been put on medical treatment with Vitamin B-6 injections and low protein diet and are under constant follow up.

Thin-layer chromatography of urine and plasma revealed increased lysine-ornithine spot [Figure - 4].


  Discussion Top


Gyrate atrophy of the choroid and retina is a rare au­tosomal recessive dystrophy.[3] Simell and Takki (1973) established the presence of large increases in plasma ornithine levels with gyrate atrophy [4],[5],[6],[7] Kupfer, Valle and Valle (1978) identified an absence of ornithine amnotrans­fereese as the specific enzyme abnormality associated with gyragte atrophy [8].

Gyrate atrophy of the choroid and retina has been erro­neously thought to be a variant of retinitis pigmentosa. Cutler and Fuchs believed that this disease represented an atypical form of retinitis pigmentosa. Both our pa­tients had nyctalopica since early childhood and were diagnosed as having retinitis pigmentosa elsewhere. However, the characteristic fundus picture [Figure - 2]a, b pathologic dark adaptation, extinguished ERG, sub­normal EOG, high myopia, cataract, vitreous degenera­tion and raised ornithine levels in plasma and urine [Figure - 4] , established the diagnosis of hyperornithemic gyra to atrophy of chorid (HOGA) in the two sibs. Elec tro­encephalographic abnormali ties have been noted previ­ously in patients of HOGA [5],[6],[7],[8],[9]. One of our patients (Patient 1) had an abnormal EEG suggestive of general­ised epilepsy, without any neurological dysfunction. The exact significance of abnormal EEG and whether elevated ornithine levels in the cerebrospinal fluid can affect the central nervous systems remains to be estab­lished.

Although patients with gyrate atrophy characteristi­cally report night blindness between ages 10 to 20 years and are virtually blind between ages 40 to 55, the natural history of this disease as well as the course needs further clarification [10]. Our patients are unusual in that they had stage III involvement at a very young age.

It is important for the clinician to recognize this rare metabolic disorder since it is treatable. Improvement in visual acuity and electroretinograms in patients with gyrate atrophy has been reported after a low protein, low-arginine-diet or pyridoxine hydrochloride (Vitam­in B6 [10]). However since treatment requires extensive clinical and biochemical evaluation, regular follow-up and monitoring of patients should be referred to tertiary care centres.

Although over one hundred published cases of HOGA, mostly from Finland, exist in literature [3]sub , this possibly is the first documentation from the Indian subcontinent.

 
  References Top

1.
Cutler C. W. Drei ungewohnliche Falle won Retinochoroideal degenera­tion, Arch Angenheilkd 30: 117-122,1895.  Back to cited text no. 1
    
2.
Fuchs E. Ueber zwei der Retinitis pigmentosa verwandte krankheiten (Retinitis punctata albescens and Atrophia gyrata choriodea et retina). Arch Auygenheilkd 32: 11-116, 1896.  Back to cited text no. 2
    
3.
Takki K, Simell O. Gyrate atrophy of the choroid and retina with hyperor­nithema (IHOGA). Birth Defects 12:373-384,1976.  Back to cited text no. 3
    
4.
Simell O, Takki K. Raised plasma-omithine and gyrate atrophy of the choroid and retina. Lancet 1:1031-1033, 1973.  Back to cited text no. 4
    
5.
Takki K. Gyrate atrophy of the chorid and retina associated with hyperor­nithemia. Br J Ophthalmol 58: 3-23,1974.  Back to cited text no. 5
    
6.
Takki K. Differential diagnosis between the primary total choroidal vascu­lar atrophies. Br J Ophthalmol 58: 24-35, 1974.  Back to cited text no. 6
    
7.
Takki K, Simell O. Genetic aspects in, gyrate atrophy of the choriod andretina with hyperomithemia. Br J Ophthalmol 58: 907-916,1974.  Back to cited text no. 7
    
8.
Kaiser-Kupfer M I, Valle D, Valle L A. A specific enzyme defect in Gyrate atrophy. Am J OPhthalmol 85: 200-204, 1978.  Back to cited text no. 8
    
9.
Mc Cullough C, Marliss E B. Gyrate atrophy of the choroid and retina with hyperornithemia. Am J Ophthalmol 80: 1047-57, 1975.  Back to cited text no. 9
    
10.
Berson E L, Shin V E, Sullivan P L. Ocular findings in Patients with Gyrate Atrophy on Pyridoxine and low-protein and low-Arginine diets. Ophthal­mology 88: 311-315,1981.  Back to cited text no. 10
    


    Figures

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


This article has been cited by
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