|Year : 1974 | Volume
| Issue : 1 | Page : 42-44
Syndrome of blue sclera, fragilitas ossium and otosclerosis
AN Mehrotra, R.P.S Bhatia
Department of Ophthalmology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-5, India
A N Mehrotra
Department of Ophthalmology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-5
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mehrotra A N, Bhatia R. Syndrome of blue sclera, fragilitas ossium and otosclerosis. Indian J Ophthalmol 1974;22:42-4
|How to cite this URL:|
Mehrotra A N, Bhatia R. Syndrome of blue sclera, fragilitas ossium and otosclerosis. Indian J Ophthalmol [serial online] 1974 [cited 2020 Jun 1];22:42-4. Available from: http://www.ijo.in/text.asp?1974/22/1/42/31378
This mesoderm al syndrome of genetic nature is widely known after different workers  : namely Lobstein Eddowes, AdairDighton, van der Hoeve and Kleyn and others. The blue sclera is the most constant feature. Fragility of bones (Type I, Type II and Type III) is seen in 60-80% of the cases whereas otosclerosis is found only in 25%30% of the cases (Duke-Elder  ). Seedorfl in a study of Danish material observed all the three signs in 26% of the cases.
Recently we have seen a family in which a middle aged lady, her brother, sister, son and daughter were involved [Figure - 1]. One of the members showed dental involvement also.
| Case Report|| |
A Hindu female aged 39 years, reported at the ophthalmic out-patient department of the S.S. Hospital, Banaras Hindu University, with complaints of diminution of vision in both eyes, especially for near. She also had bilateral deafness for the last 2 years.
On examination, there was trachomatous scarring of both eyes. The whole sclera appeared bluish in colour along with exaggerated physiological pigmented spots on it. The visual acuity was 6/9 in each eye which improved to 6/6 with - 0.50 D Sph. There was no other abnormal finding in the eyes. Examination of the ears revealed deafness due to otosclerosis.
Systemic examination revealed no abnormality. Her bones and Joints were normal.
| Family History|| |
No such abnormality was noted in her parents. A brother aged 42 years had a blue sclera without any other abnormality. A sister aged 26 years had a blue sclera along with deafness. Her son aged 11 years had a blue sclera with recurrent fractures since the age of 5 years along with retarded development of teeth [Figure - 2]. Her daughter aged 8 years had a similar appearance of the eye with recurrent fractures since childhood without any other congenital deformity.
| Comments|| |
This syndrome, undoubtedly. of a genetic nature, affects widely the development of the mesodermal tissues in the body.
Various inconclusive attempts have been made to point towards its etiology, for example, defective calcification possibly due to disturbances of calcium and phosphorus metabolism, a progressive dysplasia of certain diencephalic centres and a dyscrasia of the glands of internal secretions  . Tetany  , parathyroid hyperplasia, thyroid atrophy, congenital goiter, adiposity and sexual precocity have been reported with the syndrome  .
The blue sclera is not due to scleral pigmentation but due to increased translucency of the coat through which uveal pigment shines.
Fragilitas ossium has been observed to occur in one of the three types (Type I -Osteogenesis imperfecta; Type II-Osteopsathyrosis or Type III-Tardive type).
The deafness seems to be due to different causes such as otosclerosis, labyrinthine disease, laxity of the ossicles or ankylosis of the stapes  .
Regarding the anomalies of teeth, although their enamel is well formed, the (mesodermal) dentine is defective and the odontoblasts are ineffective'.
van der Hoeve's syndrome has a strong hereditary tendency. Most of the pedigrees show a dominant inheritance and a minority is recessive. Few sporadic cases are probably due to mutation.
| Summary|| |
A family with various manifestations of van der Hceve's syndrome is being reported.
| References|| |
Duke Elder S., 1964, System of Ophthalmology,
III, 2, 1095-1100, Henry Kimpton, London.
[Figure - 1], [Figure - 2]
[Table - 1]