|Year : 1984 | Volume
| Issue : 4 | Page : 245-246
Wolfram tyrer syndrome- a case report
J Singh, V Menon, S Gupta, Prem Prakash
Dr. Rajendra Prasad Centre for Ophthalmic Sciences A.I.I.M S. New Delhi, India
R/894. New Rajinder Nagar. New Delhi-110 060
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Singh J, Menon V, Gupta S, Prakash P. Wolfram tyrer syndrome- a case report. Indian J Ophthalmol 1984;32:245-6
This rare familial syndrome comprises of optic atrophy in insulin dependent juvenile diabetics associated with deafness and various other features.We report a family which presented with this rare syndrome.
| Case report|| |
A 12 year old boy presented with a history of progressive loss of vision in both the eyes of 2 years duration.He was found to be a diabetic at this age and had been on plain and lente insulin since then.There was no history of weight loss, itching,numbness in extremities or hearing. During the course of treatment, he suffered from severe hypoglycemic attacks on two occasions.
On examination he could only percieve light with inaccurate projection of light. The pupils were fixed and dilated. The fundus showed chalky white optic discs with a cup disc ratio of 0.2:1. visible lamina cribrosa and slightly fuzzy disc margins in both the eyes. The foveal reflexes were absent and no changes of diabetic retinopathy were detected in either eye ophthalmoscopically [Figure - 1][Figure - 2].
Family history revealed that an older brother and an elder sister had also suffered from juvenile diabetes and complete.blindness from age of 6 and 7 years respectively and both had died after 4 years. There was no history of deafness in either of them. The two younger brothers were investigated and no evidence of diabetes, visual loss or hearing defect was found. A definite history of consanguinity was present in the family, the parents being first cousins [Figure - 3].
| Discussion|| |
The familial syndrome of juvenile diabetes mellitus and optic atrophy was first described by Wolfram and Tyrer.
The Wolfram Tyrer syndrome is a condition having an autosomal inheritance pattern with frequent history of consanguinity. It is essentially toxic retrobulbar neuritis, characterised by progressive bilaterally symmetrical loss of vision which is resistant to all kinds of treatment. The syndrome manifests usually in insulin dependent juvenile diabetics in first or second decade and blindness is nearly always complete by the late teens, due to optic atrophy. Optic atrophy is uniformly severe and there may be mild to moderate cupping. There is profound loss of red and green color perception and perimetery done at an early stage may reveal a paracentral scotoma which later on involves the fixation point. Generalised constriction of fields in another type of field defect seen in these patients.
Frequently associated with optic atrophy, there may be sensory neural defness which is not always detected clinically but can be confirmed by audiometery. Various other associated systemic menifestations include neurogenic bladder atony; infantilism, goitre, mental defect and diabetes inspidus. The associated ocular menifestations of this syndrome include hemianopia, ArgyllRoberston pupils; congenital cataract, nystagmus, and pigmentary changes in the retina.
None of these associated systemic or local manifestiations were evident in our case.
The aetiological relationship between diabetes and optic atrophy without retinopathy is not at all clear. According to Saraux et a1, the gene. responsible for optic atrophy is different from that one responsible for diabetes, while Rose et a1 maintain that varied clinical manifestations represent the pleotropic effect of homozygosity at a single gene locus.
| Summary|| |
A family presenting with Wolfram-Tyrer syndrome which consists of optic atrophy, and juvenile diabetes is reported.
| References|| |
Wolfram, DJ., 1938, Proc. Mayo Clinic 13:715.
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Saraux, H, Lestradet, H, Bicis, 1972, Ann. d' Occul (Paris) 205:35.
Rose, F.C., 1976, Medical Ophthalmology Part V, Chapter 29 Chapman and Hall London.
Miller, M.R., Walsh and Hoyt s Clinical Neuro Ophthalmology Fourth Editiion page 321-322 Williams and Wilkins.. Baltimore, 1982.
Rose, F.C., Fraser. G.R.: Friedman, A.I., Kohner. E.W., 1966, Quart J. Med. 35:385-405.
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Walsh F.B., Hoyt W.F., 1969, Clinical Neuro ophthalmology III edition, chapter V Vol. land Chapter8 Vol. 11 The Williams Wilkins Co. Baltimore, 1969.
[Figure - 1], [Figure - 2], [Figure - 3]