Year : 1963 | Volume
: 11 | Issue : 4 | Page : 104--107
Familial buphthalmos with spherophakia
MS Nirankari, MR Chaddah
Department of Ophthalmology, Medical College, Amritsar, India
M S Nirankari
Department of Ophthalmology, Medical College, Amritsar
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Nirankari M S, Chaddah M R. Familial buphthalmos with spherophakia.Indian J Ophthalmol 1963;11:104-107
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Nirankari M S, Chaddah M R. Familial buphthalmos with spherophakia. Indian J Ophthalmol [serial online] 1963 [cited 2020 Feb 18 ];11:104-107
Available from: http://www.ijo.in/text.asp?1963/11/4/104/38968
Buphthalmos had been identified since very early times and its description was given in the writings of Saint Yves (1722) but its glaucomatous nature was recognised much later by Mauthner (1867). Buphthalmos is an uncommon disease. Sugar (1950) found its incidence to varying from 0.079%, to 0.3%; in different clinics. Its familial incidence is rare and much rarer is the association of spherophakia with familial buphthalmos. It is the rarity of this combination that has prompted us to present three brothers suffering from Buphthalmos, one of whom had dislocated lens in the anterior chamber and the other had a wandering lens.
Case No.1. S. S., a male child aged 6 years was admitted to this hospital on 14th March, 1960, with a history of loss of vision in the right eye for 4 years and defective vision with enlargement of left eyeball for two years.
Four years ago, the eyes of S. S. were examined by an ophthalmologist when it was detected that he had got buphthalmos in the right eye. His right eye was operated upon after which the eyeball got atrophied. Two years back they noticed that the left eyeball had started enlarging and vision was deteriorating. It was accompanied by recurrent fogginess of vision and haziness of left cornea occurring for variable periods. Medical treatment for glaucoma gave him no relief. The parents now also noticed a "bubble" (dislocated lens) appearing in the left pupil at irregular intervals resulting in diminution of vision.
In December, 1958, he was admitted to this hospital with a diagnosis of buphthalmos of the left eye and phthisis bulbi of the right eye. Iridencleisis was done in the left eye with some improvement in his vision but the "bubble" continued appearing, giving rise to diminution of vision which was accompanied by fogginess of the cornea. He was re-admitted to this hospital in December, 1959 with the diagnosis of spherophakia and dislocated lens. The lens was removed from the anterior chamber through a lower limbal incision by a wire vectis. The size of lens was 6.5mm x 6.5 mm. There was no post-operative complication. After this operation there was marked improvement in vision.
Examination of the left eye on 14th March, 1960 showed a limb of iris under the conjunctiva near the limbus at 1 o'clock with a filtering scar. Corneal measurements were 15 mm x 1 mm. In its centre there was an oval nebular opacity 1 ½ mm x 1 mm. The anterior chamber was deep, the iris tremulous with a coloboma at 12 o'clock. The pupil was jet black due to absence of lens. Intraocular tension was 20mm Hg (Schiotz). Fundus examination revealed a nasal shift of blood vessels and the disc had 4D of cupping. Vision could not be recorded on a Snellen's chart but he had sufficient vision to enable him to move about independently and act as a guide for his own two unfortunate brothers. (Cases Nos. 2 and 3).
Case No. 2. J. S., a male child aged 10 years developed haziness of the cornea with marked diminution of vision when he was 6 years old. He had large cornea. For these complaints they consulted an ophthalmologist who operated on the right eye, resulting in an improvement of vision and the haziness of cornea disappeared. The vision started deteriorating again after a month and was totally lost within three months.
The left cornea had a large opacity at the time of birth. The size of the cornea increased after birth without any other complaint.
General physical examination revealed no abnormality.
On local examination, the right eye had a horizontal nystagmus. The eyeball was enlarged. The cornea was 17 mm in diameter and had multiple nebular opacities in the centre and an operation scar at the limbus-4 mm X 1 mm. The anterior chamber was deep. The iris had a coloboma above, 3 mm X t mm and another coloboma below 5 mm X 3 mm. The fund us could not be seen. Intraocular tension was 5 mm Hg (Schiotz). There was no light perception.
The left eye had also a horizontal nystagmus. The eyeball was enlarged. The cornea was opaque in the centre, and measured 17 mm in diameter. Its epithelium was abraded. A calcarious mass (calcified lens) 4 mm X 3 mm was seen lying in the lower part of the anterior chamber [Figure 2]. Other structures of the eye could not be seen. Intraocular tension was 90 mm of Hg (Schiotz). Perception of light was absent.
Case No. 3. B. S., a male child aged 8 years had total blindness for the last three years. The child was born healthy and was playing about till 4 years of age when his eyeball started enlarging so much that it became difficult for him to close his eyes. Blue spots developed in the peripheral area. This was accompanied by redness and severe pain in the eye. He became totally blind within 5 months. The parents consulted an eye specialist who told them that no improvement was possible. Three months after this he developed corneal ulcer in the right eye which perforated and the left eye was also lost in the same way 20 days later.
A general physical examination revealed no abnormality.
On local examination, it was found that both eyes had phthisis bulbi and there was no perception of light.
The family history showed that the mother had no disease during her pregnancies and the deliveries were normal. There was no abortion. The grand-parents were reported to be healthy with good eye-sight. No history of glaucoma in any previous generation was forthcoming. They were four brothers out of whom three suffered from buphthalmos as described above. The fourth one, youngest of all aged 8 months, had normal eyes.
Most of the cases of buphthalmos are sporadic but the available literature for this condition shows that it is infrequently genetically determined.
Westerlund (1947) thinks that the gene is recessive and has a penetrance of 40%. History of consanguinity is forthcoming in some cases which further supports the recessive trait. In contrast there are several pedigrees suggestive of dominant inheritance. In our cases, absence of the disease in the parents supports a recessive character whereas the incidence of the disease in 75% of sibs and absence of parental consanguinity supports a dominant trait. In some cases of buphthalmos, a family history of glaucoma is available. Scheie could find a family history of glaucoma in II out of 108 patients whereas according to Sorsby (1951) it is exceptional. In our cases, no history of glaucoma in previous generation was present.
Dislocation of lens due to mechanical stretching of zomule in buphthalmos has been described by Von Hippel (1897) and various other workers. But almost all of them have laid stress on posterior dislocation which is quite easy to understand whereas in our cases there was spherophakia with wandering lens in one (Case No. 1) and dislocation of lens in anterior chamber in the other (Case No. 2). This combination we have not come across in the available literature though Nirankari and Maudgal (1959) have reported a case of spherophakia with secondary rise of tension. The anterior dislocation was due to the small size of the lens which could easily come out of a dilated pupil in buphthalmos along with the aqueous current. It could wander into the anterior chamber and back with a change of posture.
Three cases of familial buphthalmos in three brothers are presented, two of whom had spherophakia and in one of them the lens was wandering.
Lack of consanguinity in parents and an incidence of 75% in sibs suggest a dominant inheritance.
|1||Duke-Elder Sir S. W. (1938) Text Book of Opthalmology vol. 2 p. 1293. S. V. Mosbv Co.. St. Louis.|
|2||V. Hippel. cited in 1 p. 3239.|
|3||Mauthner (1867) cited in 1 p. 1293.|
|4||Nirankari NI. S. and Maudgal M. C. (1959) Brit. J. Ophthal 43, 314-316.|
|5||Schie H. G. (1959) A.M.A. Arch. Ophthal 62, 35.|
|6||Sorsby A. (1951) Genetics in Opthalmology p. 77. Butterworth & Co., London.|
|7||Sugar. H. S. (1950) Amer. J. Ophthal, 33, 1676.|
|8||Westerlund (1947) cited in 6.|
|9||Yves St. (1722) cited in 1, p. 1293.|