|Year : 1978 | Volume
| Issue : 2 | Page : 37-39
Wilson's disease with special reference to ocular manifestations (A case report)
H Saiduzzafar, Z Ansari, Manoj Kumar
Department of Ophthalmology, J.N. Medical College, Aligarh, India
Department of Ophthalmology, J.N. Medical College, Aligarh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Saiduzzafar H, Ansari Z, Kumar M. Wilson's disease with special reference to ocular manifestations (A case report). Indian J Ophthalmol 1978;26:37-9
|How to cite this URL:|
Saiduzzafar H, Ansari Z, Kumar M. Wilson's disease with special reference to ocular manifestations (A case report). Indian J Ophthalmol [serial online] 1978 [cited 2020 Jun 3];26:37-9. Available from: http://www.ijo.in/text.asp?1978/26/2/37/31474
Wilson's disease or hepatolenticular degeneration is a disorder affecting the basal ganglia, particularly the putamen and lenticular nucleus, with pathological changes in liver and in many instances associated with certain ocular manifestations. The disease has been named after Wilson who described the clinical and autopsy findings of individuals who during life had exhibited symptoms of a nervous disorder which was characterized by tremors, muscular rigidity, dysarthria, hypertonicity and involuntary movements : the disease was found to affect either males or females in the same family usually during the first and second decade of life and be transmitted as a simple recessive carrier condition.
The most common and characteristic ophthalmic finding in the disease is the Kayser-Fleischer ring in the cornea. Other less common signs being sunflower cataract, infrequent or absent blinking, jerky oscillatory movements of the eye, involuntary upward gaze, night blindness and pallor of discs and xerophthalmia in isolated cases.
| Case Report|| |
A girl aged 81/2 years was sent to the glaucoma clinic of the A.M.U. Institute of Ophthalmology from the Paediatrics ward of J. N. Medical College with the complaints of inability to speak properly, difficulty in swallowing, dribbling of saliva from mouth, and trembling of hands for the last two and a half months. She gave a history of continuous high grade fever two months back lasting for a week, associated with yellowness of the eyes, pain in abdomen and loss of appetite. The girl was one of seven siblings from a consanguineous marriage (Parents were first cousins [Figure - 1]; of the seven children three were dead. The eldest daughter was apparently alright till the age of, eleven years. She then developed tremors, difficulty in swallowing and speaking and soon she became bedridden because of stiffness of her limbs. She died during this illness after one year ; No treatment was given.
The girl appeared to have normal physical development. She had an expressionless mask like face with infrequent blinking. There was no pallor. icterus or any evident lymphadenopathy. The liver was palpable about one finger, firm, non-tender, with smooth margins. There was no splenomegaly or ascites. On examination of nervous system she was found to be fully conscious, oriented, cooperative and responding to commands. Mentally she seemed to be retarded according to her age. There was slurring of speech with difficulty in pronunciation of words. She answered in whispers or monosyllables. The sensory system was normal. The tone of muscles of all the four limbs especially of the left side was increased and there was cogwheel type of rigidity in the upper limb. There were coarse tremors of tongue and occasional intentional tremors of both hands more marked in the right hand ; coordination of limbs was slightly impaired but the girl could walk without support. There was flexion deformity at wrist joint and extension at interphalangeal joints. Both superficial and deep reflexes were normal.
(1) Muscles-The ocular movements were normal, and there was no evident extraocular muscle palsy.
(2) Vision-Vision in both eyes was 6!6 & JI
(3) Fundus-Fundus of right eye was normal but in the left eye there was a complete congenital coloboma of the choroid in inferonasal quadrant. The left optic disc was slightly pale, blood vessels and macula were normal.
(4) Slit-anrp examination of anterior segment: There was a pronounced bilateral Kayser-Fleischer ring about 2-3mm in width situated peripherally involving the Descemet's membrane appearing golden brown in colour on its external aspect but greenish on its inner side. The outer part of the ring was darker due to dense pigment while the inner part of the ring was seen to be composed of more discrete granules of pigment [Figure - 2]. The lens especially in the left eye showed a typical sunflower type of cataract.
Gonioscopy : It revealed golden brown pigment on the trabecular meshwork which extended upto Schwalbe's line ; iris and sclera were free from any abnormal pigmentation.
(1) Blood and urine examination were normal except E.S.R. was30 mm/ist hr.
(B) Liver Functions Tests
(1) Serum Bilarubin I mg%
(2) Serum alkaline Phosphatese 8.3. K. A. Units
(3) Thymol Turbidity test 6 Units.
(C) Serum Copper
122 Ugm 100ml
(D) Serum seruloplasmin
36 U gm/100 ml
(E) Liver biopsy
Showed increased Copper Concentration in liver.
| Discussion|| |
It is now generally believed that in Wilson's disease, there is a disorder of copper metabolism and the basic defect may be due to an inherited deficiency of ceruloplasmin which is a copper binding protein of blood, with resultant increased copper absorption into the tissues particularly in liver and brain. A large number of clinical observers are of the opinion that the material producing the characteristic corneal changes in hepato lenticular degeneration represent deposition of derivatives of substances which are washed into the circulation in the course of cirrhotic destruction of liver. These same substances that act on the ocular tissues are in all probability responsible for the degenerative process which take place in the basal ganglia and the cerebrum.
According to Denny Brown cases of Juvenile group (onset 10-15 yrs.) exhibit the hepatic symptoms at first, while neurological and. ocular changes are secondary. According to some other authors however, the eye involvement may proceed hepatic and neurological involvement. Enlargement of liver is often asymptomatic in an early case, but later on it may become cirrhotic with development of hematemesis and ascites.
The characteristic pigmentation of cornea in the form of Kayser-Fleischer ring which was present in this case is a vital sign of Wilson's disease and is said to be pathognomonic of it. It is now definitely confirmed as being due to deposition of copper in Descemet's membrane of cornea, Gartner also suggested that though the basic defect of this disease is dependant on an inherited factor it usually manifests itself at about the age of ten years with the onset of hepatitis. The best documented report of deposition of copper in the cornea is that of Uzman and Jakin. They demonstrated that the clinically visible copper which accounts for Kayser-Fleischer ring is probably present as a protein-copper complex copper chelata.
The prognosis of this disease is relatively poor. Death usually ensues due to rupture of esophageal varices or rupture of spleen. Chelating agents like penicillamine if given early have been found to check the progress of the disease.
| Summary|| |
A case of Wilson's disease of hepatolenticular degeneration with familial occurrence has been reported with sole objective to call attention to the characteristic and pathognomonic ophthalmic findings in this relatively rare disease.
| References|| |
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[Figure - 1], [Figure - 2]