|Year : 1989 | Volume
| Issue : 3 | Page : 143-145
Gyrate atrophy of the choroid and retina
Lalit Verma, Hemant Murthy, HK Tewari, PK Khosla
Dr. R. P. Centre for ophthalmic Sciences, AIIMS, New Delhi - 110 029, India
H K Tewari
Dr. R. P. Centre for ophthalmic Sciences, AIIMS, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
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|| |
Gyrate atrophy is a rare chorioretinal dystrophy. It was first reported by Cutler and Fuchs in 1895-96 , Since then , many cases have been reported in the world literature . 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|| |
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|| |
Gyrate atrophy of the choroid and retina is a rare autosomal recessive dystrophy. Simell and Takki (1973) established the presence of large increases in plasma ornithine levels with gyrate atrophy ,,, Kupfer, Valle and Valle (1978) identified an absence of ornithine amnotransfereese as the specific enzyme abnormality associated with gyragte atrophy .
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 ,,,,. 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 . 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 ). 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 sub , this possibly is the first documentation from the Indian subcontinent.
| References|| |
Cutler C. W. Drei ungewohnliche Falle won Retinochoroideal degeneration, Arch Angenheilkd 30: 117-122,1895.
Fuchs E. Ueber zwei der Retinitis pigmentosa verwandte krankheiten (Retinitis punctata albescens and Atrophia gyrata choriodea et retina). Arch Auygenheilkd 32: 11-116, 1896.
Takki K, Simell O. Gyrate atrophy of the choroid and retina with hyperornithema (IHOGA). Birth Defects 12:373-384,1976.
Simell O, Takki K. Raised plasma-omithine and gyrate atrophy of the choroid and retina. Lancet 1:1031-1033, 1973.
Takki K. Gyrate atrophy of the chorid and retina associated with hyperornithemia. Br J Ophthalmol 58: 3-23,1974.
Takki K. Differential diagnosis between the primary total choroidal vascular atrophies. Br J Ophthalmol 58: 24-35, 1974.
Takki K, Simell O. Genetic aspects in, gyrate atrophy of the choriod andretina with hyperomithemia. Br J Ophthalmol 58: 907-916,1974.
Kaiser-Kupfer M I, Valle D, Valle L A. A specific enzyme defect in Gyrate atrophy. Am J OPhthalmol 85: 200-204, 1978.
Mc Cullough C, Marliss E B. Gyrate atrophy of the choroid and retina with hyperornithemia. Am J Ophthalmol 80: 1047-57, 1975.
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.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]