Year : 1971 | Volume
: 19 | Issue : 3 | Page : 139--142
Juvenile amaurotic family idiocy with cherry-red spot and cataract
MC Nahata, PK Sethi, ML Chhabra, JD Khandekar, VP Dixit, DP Mukerji
Department of Ophthalmology and Medicine, Mahatma Gandhi Memorial Medical College and M. Y. Hospital, Indore, India
M C Nahata
Department of Ophthalmology and Medicine, Mahatma Gandhi Memorial Medical College and M. Y. Hospital, Indore
|How to cite this article:|
Nahata M C, Sethi P K, Chhabra M L, Khandekar J D, Dixit V P, Mukerji D P. Juvenile amaurotic family idiocy with cherry-red spot and cataract.Indian J Ophthalmol 1971;19:139-142
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Nahata M C, Sethi P K, Chhabra M L, Khandekar J D, Dixit V P, Mukerji D P. Juvenile amaurotic family idiocy with cherry-red spot and cataract. Indian J Ophthalmol [serial online] 1971 [cited 2020 Oct 20 ];19:139-142
Available from: https://www.ijo.in/text.asp?1971/19/3/139/34976
Ever since the description of pigmentary macular degeneration in cases of juvenile amaurotic family idiocy by Batten  , numerous reports of this disease have appeared in literature. The occurrence of a cherry-red spot in adults, however, has been exceptional. Wyburn-Mason  reported one, Pesme and Verger  two, Smith (1957) one, Anderson. Mergolis and Lynn  two, Cobb  one, Villani  three, and Tittarelil, Gisgheddu and Shadetta  one case of amaurotic family idiocy in adults exhibiting cherry-red spots. To our knowledge, cataract has not yet been reported in amaurotic family idiocy.
Case No. 1.
B .J. 19 years: male farmer was admitted in the M. Y. Hospital on 30-4-1969 with the complaints of vertigo, gradually progressive weakness in all four extremities and change in speech since last three years. Since one year he was having difficulty in writing suggestive of cerebellar seizures. He also had generalised epileptiform convulsions twice within the last year. Central nervous system examination revealed bilateral cerebellar ataxia as evidenced by vertigo, scanning speech, dysmetria, dysdiadochokinesis, trunkal ataxia and ataxic gait. There was no nystagmus. He had marked hyper-reflexia, ankle clonue and absent cremastric reflexes on both sides, indicative of bilateral pyramidal tract affection. Higher functions and other systems did not reveal any abnormality.
The visual acuity was 6/9 distance, and the second print for near each eye. The ocular movements, central and peripheral fields of vision and intra-ocular tension were normal. Slit-Lamp examination revealed a bilaterally similar cataract. In the lens, the region of the infantile and adult nucleus was studded with numerous punctate scintillating opacities. Few opacities were present in the region of the embryonic and the foetal nucleaus and so also in the subcapsular regions [Figure 1]. The disc and blood vessels were found normal on fundus examination. In the central area there was a greyish-white areola extending approximately two disc diameters horizontally and a little less vertically, surrounding a wine-red spot, the so called cherry-red spot.
Urine. V. D. R. L. and C. S. F.
- were normal.
Blood: Vacuoles in the cytoplasm were observed in 14 per cent of lymphocytes.
E. E. G.: Showed diffuse slow waves in all leads.
Case No. 2:
S. N. 16 years, male farmer, the brother of case 1, was admitted to the M Y. Hospital with the complaint of dimness of vision for distance since the last four years. Central nervous system examination revealed first degree nystagmus, intention tremors and incordination, suggestive of cerebellar affection. The ocular movements were normal. The deep reflexes were exaggerated. Other systems did not reveal any abnormality. The visual acuity was 6/60 for distance. There was a compound myopic astigmatism which was correctable to 6/9. He could read the second print for near. The peripheral fields of vision were as shown in [Figure 2], the central fields being normal.
The lens changes and the fundus picture were similar to those of Case 1. The ocular tension was normal.
Urine, V. D. R. L. & C. S. F. - were normal.
Blood: Vacuoles in the cytoplasm were observed in 9 per cent of lymphocytes.
E. E. G.: There were spikes and short waves present in the tracings suggestive of borderline epileptiform disorder.
The other members of the family were called but did not turn up for examination. However both the patients were reasonably sure that similar symptoms did not occur in the family in the last two generations.
In both the cases the diagnosis of Juvenile Amaurotic rdiocy was based on the clinical features of age of onset of symptoms, typical wine-red spots at the maculae, diffuse neurological signs suggestive of cerebro-cerebellar affection and the presence of vacuolated lymphocytes in the peripheral lymphocytes in the peripheral blood smears. However the feature of mental deficiency was conspicuously absent.
In general the age of onset and the natural history of this disease tends to follow a set pattern in a particular family (Anderson et al  Cobb  , Villani  ). In our cases the ages at which the symptoms first appeared were 16 years and 12 years respectively. However in the younger brother the optic nerve involvement was more marked and the cerebellar signs were less, perhaps due to lipidosis affecting different sites of the neuroectoderm. This can be considered to be the cause of the different field defects in case No. 2( S. N.) from those observed by T ttarelli et al .
Lipidosis affecting the ganglion cells of the retina is responsible for the oedematous changes appearing in them and thus permitting the choroidal reflex to become prominent through the thin fovea centralis, which manifests as the cherry red spot. This spot is commonly seen in cases of Tay-Sachs disease. Presence of similar spots in metabolic disorders in adults is extremely rare. However we could note citations of eleven cases with cherry red spots in adults with Amaurotic family Idiocy.
The occurence of vacuoles in the cytoplasm of lymphocytes in Juvenile Family idiocy has been noted by von Bagh and Hortling  (1948) Rayner  and others. FuKuda and Miura  studied these vacuolated lymphocytes with the electron microscope and suggested that these vacuoles may contain lipids. In our cases vacuoles in the cytoplasm occured in 14 per cent in case No. 1 and in 9 per cent of lymphocytes in case No. 2.
The most unusual feature was the presence of cataracts in both the brothers [Figure 1]. These cataracts can be considered to be typical. We could find no mention of morphologically similar cataracts in any of the commonly known congenital types. Punctate scintillating opacities were present in all the nuclei of the lens including few very small opacities in the zone of the embryonic nucleus. Presence of bilaterally similar cataracts in two brothers indicate a common genetic origin.
Whether the cataracts and the lipoid disorder are the result of two different genetic disorders occuring together coincidentally or have the same genetic origin is difficult to say.
It is suggested that more cases of Juvenile Amaurotic Family Idiocy should be examined by the Slit Lamp as these finer lenticular changes are likely to be missed during routine examination.
Two brothers suffering from Juvenile Amaurotic Family Idiocy are reported.
The unusual features in these cases were the presence of cherryred spots at the maculae, but absence of idiocy, vacuolated lymphocytes in blood and cataracts.
|1||ANDERSON, B. MARGOLIS, G. and LYNN, W. S.: Ocular lesions related to disturbances in metabolism. Amer. J. Ophthal. 45: No. 4 pt. II, p. 23.|
|2||VON BAGH and HORTLING (1948) Quoted by Duke-Elder, S. W. and Dobree, J. H. System of Ophthalmology. Vol. X p. 480, Henry Kimpton, London 1967.|
|3||BATTEN, F. (1903): Trans. Ophthal. Soc. U. K. 23: 386.|
|4||COBB (1964): Quoted by Tittarelli et al in 9: (1966).|
|5||KUKUDA and MIURA (1966): The ultrastructure of vacuolated lymhpocytes in peripheral blood of Juvenile amaurotic family idiocy. quoted in Ophthalmic Literature (1966) 20: 2892.|
|6||PESME, and VERGER, P. (1946): Quoted by Tittarelli et al in 9.|
|7||Rayner (1952), 1962) : Quoted by Kuke-Elder, S. W. and Debree, J. H. System of Ophthalmology, Vol. X p. 480. Henry Kimpton, London, 1967.|
|8||SMITH, J. L. (1957): Quoted by Walsh, F. B. (1957) Clinical Neuroophthalmology Ed. II. Williams and Wilkins, Baltimore.|
|9||TITTARELLI, R. GIAGHEDDU, M. and SPADETTA, V.: Typical ophthalmoscopic picture of cherry-red spot in an adult with myoclonic syndrome. Brit. J. Ophthal. 50: 414.|
|10||VILLANI (1964): Quoted by Tittarelli et al (1966).|
|11||WYBURN-MASON, R. (1943): Brit. J. Ophthal. 27, 145, 193: (1943).|